From 1d6ef194fd8de7eec24813c411871a6a20737713 Mon Sep 17 00:00:00 2001 From: Zoe May Pendlington Date: Wed, 14 Aug 2024 12:08:45 +0100 Subject: [PATCH] Added measurement for #2243 and imported term for #2216 --- efo-base.owl | 39 +- src/ontology/efo-edit.owl | 10 + src/ontology/imports/hp_import.owl | 19 + src/ontology/imports/hp_terms.txt | 1 + src/ontology/iri_dependencies/hp_terms.txt | 1 + src/ontology/reports/basic-report.tsv | 244 +- .../reports/class-count-by-prefix.tsv | 4 +- src/ontology/reports/edges.tsv | 26430 ++++++++-------- src/ontology/reports/synonyms.tsv | 3745 +-- src/ontology/reports/xrefs.tsv | 2596 +- 10 files changed, 16585 insertions(+), 16504 deletions(-) diff --git a/efo-base.owl b/efo-base.owl index 5361fe41..a554dda0 100644 --- a/efo-base.owl +++ b/efo-base.owl @@ -52,7 +52,7 @@ Licensed under the Apache License, Version 2.0 (the "License"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an "AS IS" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. www.apache.org/licenses/LICENSE-2.0 - 2024-08-08 + 2024-08-14 3.68.0 @@ -517189,6 +517189,43 @@ Smart-seq3 is a continuation and improvement of the Smart-seq technology, specif + + + + + The Illumina NovaSeq X is a high-throughput sequencing machine developed by Illumina. + Zoe May Pendlington + 2024-08-08T13:01:38Z + Illumina NovaSeq X + + + + + + + + + The Illumina NovaSeq X Plus is a high-throughput sequencing machine developed by Illumina. + Zoe May Pendlington + 2024-08-08T13:10:10Z + Illumina NovaSeq X Plus + + + + + + + + + It is the most common clonal somatic alteration in leukocytes of female individuals. + Zoe May Pendlington + 2024-08-14T09:43:25Z + mLOX + mosaic loss of chromosome X measurement + + + + diff --git a/src/ontology/efo-edit.owl b/src/ontology/efo-edit.owl index c103116c..ffa58de0 100644 --- a/src/ontology/efo-edit.owl +++ b/src/ontology/efo-edit.owl @@ -17225,6 +17225,7 @@ Declaration(Class(efo:EFO_0022838)) Declaration(Class(efo:EFO_0022839)) Declaration(Class(efo:EFO_0022840)) Declaration(Class(efo:EFO_0022841)) +Declaration(Class(efo:EFO_0022842)) Declaration(Class(efo:EFO_0030000)) Declaration(Class(efo:EFO_0030001)) Declaration(Class(efo:EFO_0030002)) @@ -207567,6 +207568,15 @@ AnnotationAssertion(dc:date efo:EFO_0022841 "2024-08-08T13:10:10Z"^^xsd:dateTime AnnotationAssertion(rdfs:label efo:EFO_0022841 "Illumina NovaSeq X Plus"@en) SubClassOf(efo:EFO_0022841 efo:EFO_0002699) +# Class: efo:EFO_0022842 (mosaic loss of chromosome X measurement) + +AnnotationAssertion(obo:IAO_0000115 efo:EFO_0022842 "It is the most common clonal somatic alteration in leukocytes of female individuals.") +AnnotationAssertion(dc:creator efo:EFO_0022842 "Zoe May Pendlington") +AnnotationAssertion(dc:date efo:EFO_0022842 "2024-08-14T09:43:25Z"^^xsd:dateTime) +AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0022842 "mLOX") +AnnotationAssertion(rdfs:label efo:EFO_0022842 "mosaic loss of chromosome X measurement"@en) +SubClassOf(efo:EFO_0022842 efo:EFO_0004554) + # Class: efo:EFO_0030000 (STARmap) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:29930089") Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-3090-9894") obo:IAO_0000115 efo:EFO_0030000 "STARmap is an image-based technology for 3D intact-tissue RNA sequencing, which integrates hydrogel-tissue chemistry, targeted signal amplification, and in situ sequencing.") diff --git a/src/ontology/imports/hp_import.owl b/src/ontology/imports/hp_import.owl index fc456897..77f2f77f 100644 --- a/src/ontology/imports/hp_import.owl +++ b/src/ontology/imports/hp_import.owl @@ -56589,6 +56589,25 @@ + + + + + The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization. + 2017-12-14T13:39:58Z + + The presence of choroidal polyps and BVN can lead to recurrent episodes of exudative retinal detachment, serous or hemorrhagic pigment epithelial detachment (PED), subretinal hemorrhage, and subretinal exudation. + Polypoidal choroidal vasculopathy + + + + + The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization. + PMID:24653824 + + + + diff --git a/src/ontology/imports/hp_terms.txt b/src/ontology/imports/hp_terms.txt index be71b0c3..2f66975a 100644 --- a/src/ontology/imports/hp_terms.txt +++ b/src/ontology/imports/hp_terms.txt @@ -1646,6 +1646,7 @@ http://purl.obolibrary.org/obo/HP_0025428 http://purl.obolibrary.org/obo/HP_0025501 http://purl.obolibrary.org/obo/HP_0025517 http://purl.obolibrary.org/obo/HP_0025534 +http://purl.obolibrary.org/obo/HP_0025569 http://purl.obolibrary.org/obo/HP_0025700 http://purl.obolibrary.org/obo/HP_0030016 http://purl.obolibrary.org/obo/HP_0030050 diff --git a/src/ontology/iri_dependencies/hp_terms.txt b/src/ontology/iri_dependencies/hp_terms.txt index d1dbc9d7..e3eaf550 100644 --- a/src/ontology/iri_dependencies/hp_terms.txt +++ b/src/ontology/iri_dependencies/hp_terms.txt @@ -1887,3 +1887,4 @@ http://purl.obolibrary.org/obo/HP_0009589 http://purl.obolibrary.org/obo/HP_0032025 http://purl.obolibrary.org/obo/HP_0003233 http://purl.obolibrary.org/obo/HP_0040298 +http://purl.obolibrary.org/obo/HP_0025569 diff --git a/src/ontology/reports/basic-report.tsv b/src/ontology/reports/basic-report.tsv index 2f744fda..a507f6d3 100644 --- a/src/ontology/reports/basic-report.tsv +++ b/src/ontology/reports/basic-report.tsv @@ -570,7 +570,7 @@ "A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." "ICD10:C16.1 ICD10:C16.4 DOID:5516 Orphanet:418959 GARD:21743 ICD10:C16.0 NCIT:C5475 UMLS:CN237470 ICD10:C16.5 ICD10:C16.8 MONDO:0006230 MEDGEN:234302 EFO:1000278 SCTID:766980008 ICD10:C16.3 UMLS:C1333789 ICD10:C16.2" "Sepsis associated with organ dysfunction distant from the site of infection." "ICD9:995.91 SNOMEDCT:91302008 NCIt:C3364 NCIt:C111915 MeSH:D018805" "MeSH:D046970 NCIt:C86271 SNOMEDCT:9766004" - "Cranial neural crest which gives rise to the trigeminal ganglion." "EFO:0003484 VHOG:0000269 EMAPA:16170 ZFA:0000080 EHDAA:667 TAO:0000080 EHDAA2:0002083" + "Cranial neural crest which gives rise to the trigeminal ganglion." "VHOG:0000269 EMAPA:16170 ZFA:0000080 EHDAA:667 TAO:0000080 EHDAA2:0002083 EFO:0003484" "The amount of a VIP36-like protein when measured in blood serum." "SNOMEDCT:61302002 NCIt:C77176" "Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid." "UMLS:C4023155" @@ -799,7 +799,7 @@ "quantification of the amount of Agouti-related protein in a sample" "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes." "The amount of a protein-glutamine gamma-glutamyltransferase K when measured in blood serum." - "Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]." "NCIT:C12666 GAID:446 CALOHA:TS-0016 AAO:0010551 XAO:0000164 MESH:D000311 MAT:0000071 UMLS:C0001625 Wikipedia:Adrenal_gland EV:0100135 BTO:0000047 FMA:9604 galen:AdrenalGland SCTID:181127006 EFO:0000238 MIAA:0000071 EMAPA:18426 MA:0000116" + "Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]." "NCIT:C12666 GAID:446 CALOHA:TS-0016 AAO:0010551 XAO:0000164 MESH:D000311 UMLS:C0001625 MAT:0000071 Wikipedia:Adrenal_gland EV:0100135 BTO:0000047 FMA:9604 galen:AdrenalGland SCTID:181127006 EFO:0000238 MIAA:0000071 EMAPA:18426 MA:0000116" "A HETE having a (12S)-hydroxy group and (5Z)-, (8Z)-, (10E)- and (14Z)-double bonds." "PMID:7688315 PMID:12697425 CAS:54397-83-0 PMID:7511046 KEGG:C14777 PMID:11726629 PMID:11158968 Beilstein:2656104 LIPID_MAPS_instance:LMFA03060007 PMID:7593207 PMID:2517876 PMID:7540838 PMID:17963719 PMID:7683691 KNApSAcK:C00000424 PMID:11756509 PMID:25449650 PMID:7492988 Reaxys:2656104 PMID:15105833 PMID:3026490 PMID:10952974" "A neoplasm (disease) that involves the major salivary gland." "UMLS:C0345599 NCIT:C4407 SCTID:126787005 MEDGEN:83383" "Quantification of sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0) in a sample." @@ -949,7 +949,7 @@ "Quantification of the amount of 11beta-hydroxyandrosterone glucuronide in a sample." "PMID:35347128" "A neoplasm (disease) that involves the ear." "UMLS:C0013449 MEDGEN:4431 NCIT:C3000" "SNOMEDCT:22937005 MeSH:D047010" - "A thienopyridine that is 4,5,6,7-tetrahydrothieno[3,2-c]pyridine in which the hydrogen attached to the nitrogen is replaced by an o-chlorobenzyl group." "Patent:US4127580 SNOMEDCT:386950000 Patent:DE2404308 DrugBank:DB00208 ChemIDplus:55142-85-3 CAS:55142-85-3 PMID:19180126 KEGG:D08594 KEGG:C07140 NCIt:C61972 Drug_Central:2657 KEGG COMPOUND:C07140 MeSH:D013988 Patent:US4051141 SNOMEDCT:108971003 Reaxys:1216802 Wikipedia:Ticlopidine LINCS:LSM-1986" + "A thienopyridine that is 4,5,6,7-tetrahydrothieno[3,2-c]pyridine in which the hydrogen attached to the nitrogen is replaced by an o-chlorobenzyl group." "SNOMEDCT:386950000 Patent:DE2404308 DrugBank:DB00208 ChemIDplus:55142-85-3 CAS:55142-85-3 PMID:19180126 KEGG:D08594 KEGG:C07140 NCIt:C61972 Drug_Central:2657 KEGG COMPOUND:C07140 MeSH:D013988 Patent:US4051141 SNOMEDCT:108971003 Reaxys:1216802 Wikipedia:Ticlopidine LINCS:LSM-1986 Patent:US4127580" "The amount of a large ribosomal subunit protein uL2m when measured in blood serum." "Quantification of the amount of X-17685 in a sample." "PMID:35347128" "The amount of a S-arrestin when measured in blood serum." @@ -1130,7 +1130,7 @@ "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia." "NCIT:C4375 MEDGEN:293643 UMLS:C1578917 OMIM:147630 SCTID:274944000 MESH:C563258" "The amount of a zinc finger protein 593 when measured in blood serum." - "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." "UMLS:C0008049 MONDO:0005700 SCTID:38907003 MEDGEN:2995 MeSH:D002644 MedDRA:10008505 ICD9:052.9 MESH:D002644 NCIT:C97132 ICD10:B01 DOID:8659 ICD9:052" + "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." "UMLS:C0008049 MONDO:0005700 SCTID:38907003 MEDGEN:2995 MeSH:D002644 ICD9:052.9 MESH:D002644 MedDRA:10008505 NCIT:C97132 ICD10:B01 DOID:8659 ICD9:052" "OMIM:613752 ICD10:E72.1" "The determination of the amount of hormone present in a sample." "SNOMEDCT:122445005 NCIt:C74742" @@ -1303,7 +1303,7 @@ "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." "NANDO:1201036 MESH:C537699 UMLS:C1855681 NANDO:2200140 DOID:0111112 NCIT:C74998 OMIM:256100 Orphanet:93592 MEDGEN:343406 SCTID:444830001 GARD:18645" "The determination of the amount of complement component C9 in a sample" "PMID:28240269" "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." "DOID:0060376 SCTID:721873007 MESH:C536531 Orphanet:2754 MEDGEN:411200 NCIT:C124841 GARD:4412 UMLS:C2745997 OMIM:277170" - "Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." "DOID:0050855 SNOMEDCT:197660000 HP:0030760 MONDO:0000494 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" + "Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." "DOID:0050855 SNOMEDCT:197660000 MONDO:0000494 HP:0030760 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" "Quantification of the amount of amphoterin-induced protein 2 measurement in a sample." "PMID:36168886" "quantification of the amount of [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial in a sample" "A tuberculosis that involves the ureter." "ICD9:016.20 DOID:827 SCTID:81359005 UMLS:C0152800 ICD9:016.2 MEDGEN:509076" @@ -2064,7 +2064,7 @@ "Quantification of arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 in a sample." "PMID:29875488" "Tracheal primordium that develops into the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut." "FBbt:00017003" - "The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO]." "CALOHA:TS-1154 MA:0000877 FMA:62035 EV:0100224 BAMS:SUB EMAPA:35839 HBA:4518 NCIT:C12454 GAID:655 UMLS:C0152355 Wikipedia:Subthalamic_nucleus NLXANAT:1010002 EFO:0001392 BM:Die-Sb BAMS:STh SCTID:361575000 neuronames:435 BAMS:STN BTO:0002252 MBA:470 DHBA:10466 MESH:D020531" + "The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO]." "MA:0000877 CALOHA:TS-1154 FMA:62035 EV:0100224 BAMS:SUB EMAPA:35839 HBA:4518 NCIT:C12454 GAID:655 UMLS:C0152355 Wikipedia:Subthalamic_nucleus NLXANAT:1010002 EFO:0001392 BM:Die-Sb BAMS:STh SCTID:361575000 neuronames:435 BAMS:STN BTO:0002252 MBA:470 DHBA:10466 MESH:D020531" "Quantification of the amount of valylphenylalanine in a sample." "PMID:35347128" "A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas." "ICD9:202.80 MEDGEN:44223 ICD10:C85.9 ONCOTREE:MLYM GARD:0011955 EFO:0000574 UMLS:C0024299 SCTID:118600007 MESH:D008223 Orphanet:223735 ICDO:9590/3 ICD9:200.0 SCTID:373168002 COHD:432571 NANDO:2100004 OMIM:605027 DOID:0060058 ICD9:200.1 MONDO:0005062 MedDRA:10025310 NCIT:C3208" @@ -3498,7 +3498,7 @@ "OMIM:310440 ICD10:G71.8" - "Initial section of the oviduct through which the ova pass from the ovary to the uterus." "CALOHA:TS-0732 FMA:18245 EMAPA:35660 Wikipedia:Fallopian_tube EV:0100112 NCIT:C12403 MESH:D005187 MA:0000385 GAID:365 galen:FallopianTube SCTID:181463001 EHDAA2:0000504 UMLS:C0015560" + "Initial section of the oviduct through which the ova pass from the ovary to the uterus." "CALOHA:TS-0732 EMAPA:35660 Wikipedia:Fallopian_tube EV:0100112 NCIT:C12403 MESH:D005187 MA:0000385 GAID:365 galen:FallopianTube SCTID:181463001 EHDAA2:0000504 UMLS:C0015560 FMA:18245" "A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." @@ -4017,7 +4017,7 @@ "An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei." "MEDGEN:688039 NCIT:C127907 ONCOTREE:ECAD UMLS:C1263762 SCTID:123842006 DOID:0050940" "OMIM:304400 ICD10:H90.8" - "The head of pancreas is a portion of the pancreas that is lodged within the curve of the duodenum, and is flattened anteriorly (from before). The other parts of the pancreas are the body and the tail. Its upper border is overlapped by the superior part of the duodenum and its lower overlaps the horizontal part; its right and left borders overlap in front, and insinuate themselves behind, the descending and ascending parts of the duodenum respectively. [WP,unvetted]." "FMA:10468 MA:0000122 SCTID:362201006 EMAPA:17507 NCIT:C12269 VHOG:0000448 UMLS:C0227579 EHDAA2:0001374 Wikipedia:Head_of_pancreas" + "The head of pancreas is a portion of the pancreas that is lodged within the curve of the duodenum, and is flattened anteriorly (from before). The other parts of the pancreas are the body and the tail. Its upper border is overlapped by the superior part of the duodenum and its lower overlaps the horizontal part; its right and left borders overlap in front, and insinuate themselves behind, the descending and ascending parts of the duodenum respectively. [WP,unvetted]." "FMA:10468 MA:0000122 SCTID:362201006 EMAPA:17507 VHOG:0000448 NCIT:C12269 UMLS:C0227579 EHDAA2:0001374 Wikipedia:Head_of_pancreas" "The amount of a transmembrane protein 59-like when measured in blood serum." "This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life." @@ -4820,7 +4820,7 @@ "In the heart, the atrium is an upper chamber found on both sides of the heart. The left atrium receives red, oxygenated blood from the lungs by way of the pulmonary veins. The right atrium receives dark red blood from the other parts of the body." "MA:0000073 FMA:85574 TAO:0000471 MeSH:D006325 EMAPA:16688 MAT:0000496 BTO:0000903 EHDAA:1265 EV:0100018 MFO:0080900" "GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)" "UMLS:C0700299 MedDRA:10002058 HP:0005511 MEDGEN:148583 DOID:0111363 MESH:C563030 OMIM:140700 Orphanet:178330" - "A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." "MONDO:0006421 EFO:1000538 MEDGEN:328036 NCIT:C43552 UMLS:C1710112" + "A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." "UMLS:C1710112 MONDO:0006421 EFO:1000538 MEDGEN:328036 NCIT:C43552" "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol." "Orphanet:35107 GARD:10283 ICD9:272.8 MEDGEN:400801 OMIM:602398 SCTID:709490002 MESH:C566555 UMLS:C1865596" "Quantification of the amount of methyl glucopyranoside (alpha + beta) in a sample." "PMID:35347128" "The amount of a NADP-dependent malic enzyme when measured in blood serum." @@ -5171,7 +5171,7 @@ "OMIM:618364 OMIM:614937 ICD10:G25.3" - "A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells." "NCIT:C40112 DOID:3173 UMLS:C1517123 MEDGEN:275874" + "A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells." "NCIT:C40112 DOID:3173 MEDGEN:275874 UMLS:C1517123" "The amount of a dihydrolipoyl dehydrogenase, mitochondrial when measured in blood serum." "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." "OMIM:602849 GARD:7097 MEDGEN:355217 Orphanet:53271 SCTID:440350001 MESH:C537369 DOID:0060703 NCIT:C84904 UMLS:C1864436" @@ -5804,7 +5804,7 @@ "GARD:18297 SCTID:720576001 Orphanet:178506 UMLS:C5436276 OMIM:618007 OMIM:613658 MEDGEN:1750003" "The amount of a smad5 when measured in blood serum." "Quantification of p53 and DNA damage-regulated protein 1 in a sample." "PMID:29875488" - "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." "DOID:0050855 SNOMEDCT:197660000 HP:0030760 MONDO:0000494 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" + "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." "DOID:0050855 SNOMEDCT:197660000 MONDO:0000494 HP:0030760 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" "The amount of a CDGSH iron-sulfur domain-containing protein 1 when measured in blood serum." "The amount of a plastin-1 when measured in blood serum." @@ -5836,7 +5836,7 @@ "Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris." "UMLS:C0003076 SNOMEDCT_US:69278003" "Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities." "Orphanet:101028 GARD:10445 MESH:C563207 MEDGEN:224855 SCTID:124252008 OMIM:606003 UMLS:C1291329 ICD9:277.6" - "NCIt:C412 DrugBank:DB00970 SNOMEDCT:64127001 KEGG:C06770 MeSH:D003609 Wikipedia:Dactinomycin SNOMEDCT:387353003 CAS:50-76-0 Drug_Central:774 Beilstein:4173766 LINCS:LSM-5783 KEGG:D00214" + "NCIt:C412 DrugBank:DB00970 SNOMEDCT:64127001 KEGG:C06770 MeSH:D003609 Wikipedia:Dactinomycin SNOMEDCT:387353003 CAS:50-76-0 Drug_Central:774 Beilstein:4173766 KEGG:D00214 LINCS:LSM-5783" "A thymocyte that has a T cell receptor consisting of a gamma chain containing Vgamma2 segment, and a delta chain. This cell type is CD4-negative, CD8-negative and CD24-negative. This cell-type is found in the fetal thymus." "DOID:0080981 OMIM:618947 MEDGEN:1731112 UMLS:C5436453" "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails." "MESH:C562907 GARD:10363 UMLS:C0406443 DOID:0080079 MEDGEN:96056 SCTID:238719003 ICD9:703.8 DOID:0080088 OMIM:161050 Orphanet:79153" @@ -6953,7 +6953,7 @@ "The amount of a cystic fibrosis transmembrane conductance regulator when measured in blood serum." "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." "ICD9:278.00 NIFSTD:nlx_dys_20090302 SCTID:414916001 MEDGEN:18127 NCIt:C3283 MONDO:0011122 DOID:9970 OMIM:601665 MedDRA:10029883 MeSH:D009765 HP:0001513 Orphanet:521399 SNOMEDCT:414916001 UMLS:C0028754 NCIT:C3283 MedDRA:10029885 ICD10:E66 ICD9:278.0" - "An alpha-tocopherol that has R,R,R configuration. The naturally occurring stereoisomer of alpha-tocopherol, it is found particularly in sunflower and olive oils." "PMID:31013594 PMID:19663978 PMID:28694484 PMID:20209471 PMID:23599266 SNOMEDCT:116776001 LIPID_MAPS_instance:LMPR02020001 Chemspider:14265 SNOMEDCT:37237003 KNApSAcK:C00007366 PMID:14657365 KEGG:C02477 Reaxys:94012 NCIt:C2832 Wikipedia:Alpha-Tocopherol MetaCyc:ALPHA-TOCOPHEROL PMID:16512933 PMID:17031012 PMID:19389964 PMID:33197771 PMID:21591326 PDBeChem:VIV PMID:17310859 PMID:11427352 DrugBank:DB00163 HMDB:HMDB0001893 Beilstein:94012 Drug_Central:4280 CAS:59-02-9 FooDB:FDB000565 PMID:12899840 Beilstein:5300493 MeSH:D014810" + "An alpha-tocopherol that has R,R,R configuration. The naturally occurring stereoisomer of alpha-tocopherol, it is found particularly in sunflower and olive oils." "PMID:31013594 PMID:19663978 PMID:28694484 PMID:20209471 PMID:23599266 SNOMEDCT:116776001 LIPID_MAPS_instance:LMPR02020001 Chemspider:14265 SNOMEDCT:37237003 KNApSAcK:C00007366 PMID:14657365 KEGG:C02477 Reaxys:94012 NCIt:C2832 Wikipedia:Alpha-Tocopherol MetaCyc:ALPHA-TOCOPHEROL PMID:16512933 PMID:17031012 PMID:19389964 PMID:33197771 PDBeChem:VIV PMID:21591326 PMID:17310859 PMID:11427352 DrugBank:DB00163 HMDB:HMDB0001893 Beilstein:94012 Drug_Central:4280 CAS:59-02-9 FooDB:FDB000565 PMID:12899840 Beilstein:5300493 MeSH:D014810" "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood." "SCTID:717264003 UMLS:C0432227 GARD:10429 MEDGEN:96583 OMIM:113500 Orphanet:93304" "Rapid whole-genome sequencing (STATseq)" "PMID:25937001" "Inbred Strain." "TGEMO:00052 MGI:2162087" @@ -8944,7 +8944,7 @@ "Quantification of receptor-type tyrosine-protein phosphatase R in a sample." "PMID:29875488" "NCIt:C33346 FMA:61896" "Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal." "OMIM:269860 GARD:4832 Orphanet:93268 MESH:C537599 DOID:9249 SCTID:254052001 MEDGEN:96578 ICD9:756.9 UMLS:C0432198" - "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." "SCTID:713609000 MONDO:0006256 NCIT:C9245 UMLS:C0853879 ONCOTREE:BRCA EFO:1000307 MEDGEN:163435" + "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." "MONDO:0006256 NCIT:C9245 UMLS:C0853879 ONCOTREE:BRCA EFO:1000307 MEDGEN:163435 SCTID:713609000" "An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." "DOID:3605 MONDO:0002702 NCIT:C5228 UMLS:C1096638 MEDGEN:242756 EFO:1001962 SCTID:314191009" "CS57752 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158776&type=germplasm" "The amount of a dialkylglycerol when measured in blood serum." @@ -9453,7 +9453,7 @@ "Quantification of the amount of 1-palmitoyl-2-docosahexaenoyl-GPE (16:0/22:6) in a sample." "PMID:35347128" "The amount of a PTB-containing, cubilin and LRP1-interacting protein when measured in blood serum." "Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977." "GARD:18773 MESH:C535640 Orphanet:2487 MEDGEN:418952 UMLS:C2930962" - "A calcheamicin in which contains 3-O-methyl-alpha-L-rhamnosyl, 2,6-dideoxy-4-thio-beta-D-ribo-hexopyranosyl, and 4-amino-4,6-dideoxy-2-O-[2,4-dideoxy-4-(ethylamino)-3-O-methyl-alpha-L-threo-pentopyranosyl]-alpha-L-idopyranose units and in which the aromatic ring contains an iodo substituent." "CiteXplore:12606118 PMID:1584797 Reaxys:9894883 KEGG COMPOUND:108212-75-5 PMID:15099529 CiteXplore:2753814 MeSH:C055955 PMID:12606118 CAS:108212-75-5 CiteXplore:1584797 PMID:2753814 KEGG COMPOUND:C11469 ChemIDplus:108212-75-5 CiteXplore:15099529 KEGG:C11469" + "A calcheamicin in which contains 3-O-methyl-alpha-L-rhamnosyl, 2,6-dideoxy-4-thio-beta-D-ribo-hexopyranosyl, and 4-amino-4,6-dideoxy-2-O-[2,4-dideoxy-4-(ethylamino)-3-O-methyl-alpha-L-threo-pentopyranosyl]-alpha-L-idopyranose units and in which the aromatic ring contains an iodo substituent." "CiteXplore:12606118 PMID:1584797 Reaxys:9894883 KEGG COMPOUND:108212-75-5 PMID:15099529 PMID:12606118 CiteXplore:2753814 MeSH:C055955 CAS:108212-75-5 CiteXplore:1584797 PMID:2753814 KEGG COMPOUND:C11469 ChemIDplus:108212-75-5 CiteXplore:15099529 KEGG:C11469" "HpaII tiny fragment enrichment by ligation-mediated PCR (HELP-Seq)" "PMID:19386619" "A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)" "NCIT:C5649 UMLS:C1332137 MEDGEN:233130 DOID:6482" "The amount of a dual specificity tyrosine-phosphorylation-regulated kinase 1A when measured in blood serum." @@ -9585,7 +9585,7 @@ "Any measurable or observable characteristic related to the shape and structure of the crus helix, the continuation of the anteroinferior ascending helix, which extends in a posteroinferior direction into the cavity of the concha above the external auditory meatus. The average crus helix extends about one half to two thirds the distance across the concha. " "OMIM:612956 OMIM:603829 ICD10:I49.0" - "XPCS2BA; also has features of Cockayne syndrome; no evidence of malignancy; bilateral sensorineural hearing loss; dry skin; numerous freckles; hyperpigmented macules; broad-based choreoathetotic gait; brother of GM13025; donor subject is homozygous for a T>C transversion in the ERCC3 gene which results in a phenylalanine-99-to-serine missense mutation [PHE99SER (F99S)]." "CLO:0013998 RRID:CVCL_V272" + "XPCS2BA; also has features of Cockayne syndrome; no evidence of malignancy; bilateral sensorineural hearing loss; dry skin; numerous freckles; hyperpigmented macules; broad-based choreoathetotic gait; brother of GM13025; donor subject is homozygous for a T>C transversion in the ERCC3 gene which results in a phenylalanine-99-to-serine missense mutation [PHE99SER (F99S)]." "RRID:CVCL_V272 CLO:0013998" "Quantification of azothoate in blood plasma." "KEGG COMPOUND:C19020" "Quantification of the amount of 1-palmitoyl-2-alpha-linolenoyl-GPC (16:0/18:3n3) in a sample." "PMID:35347128" @@ -9635,7 +9635,7 @@ "Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." "OMIM:261750 ICD10:E74.0" "An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive." "UMLS:C4305104 SCTID:718880003 Orphanet:50812 MEDGEN:930773 GARD:18841" "Human pancreatic adenocarcinoma cell line." "RRID:CVCL_3917 BTO:0003303" - "The most superficial muscle of the triceps surae group, in the posterior portion of the lower hindleg." "UMLS:C0242691 MA:0002306 EHDAA:8293 Wikipedia:Gastrocnemius_muscle FMA:22541 NCIT:C32666 EFO:0001413 EHDAA2:0000701 galen:Gastrocnemius VHOG:0001193 SCTID:181700004 EMAPA:35375 BTO:0000506" + "The most superficial muscle of the triceps surae group, in the posterior portion of the lower hindleg." "UMLS:C0242691 MA:0002306 EHDAA:8293 Wikipedia:Gastrocnemius_muscle FMA:22541 EFO:0001413 NCIT:C32666 EHDAA2:0000701 galen:Gastrocnemius VHOG:0001193 SCTID:181700004 EMAPA:35375 BTO:0000506" "Quantification of the ratio of C-glycosyltryptophan to succinylcarnitine in a sample." "PMID:24816252" "Quantification of the amount of 3,7-dimethylurate in a sample." "PMID:35347128" "Quantification of the amount of X-11438 in a sample." "PMID:24816252" @@ -9842,6 +9842,7 @@ "A cubic centimeter is a volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml." "MO:834" "The amount of a pseudouridine-5'-phosphatase when measured in blood serum." "Quantification of the amount of glycosyl ceramide (d18:2/24:1, d18:1/24:2) in a sample." "PMID:35347128" + "The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization." "RRID:CVCL_0532 BTO:0000948 CLO:0009063" "human multiple myeloma cell line from a 77 year old Japanese female" "Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." "OMIM:611875 OMIM:601144 MeSH:D053840 OMIM:611777 OMIM:611876 OMIM:612838 OMIM:613119 OMIM:613120 MedDRA:10059027 OMIM:616399 ICD10:I47.2 UMLS:C1142166 OMIM:613123" @@ -10429,10 +10430,10 @@ "The maximum rate of gas flow, beginning at the point of peak inspiratory capacity, that can be sustained during forced exhalation for a defined period of time." "PMID:30804560 NCIt:C41372" "Acute otitis media is a short and generally painful infection of the middle ear." "UMLS:C0271429 SNOMEDCT_US:3110003" - "An epithelium that is part of a nasopharynx [Automatically generated definition]." "VHOG:0001038 EMAPA:17672 CALOHA:TS-0662 BTO:0004480 MA:0001865 EHDAA2:0001241 NCIT:C49263 UMLS:C1179157 FMA:62452 EHDAA:7090" + "An epithelium that is part of a nasopharynx [Automatically generated definition]." "VHOG:0001038 CALOHA:TS-0662 EMAPA:17672 BTO:0004480 MA:0001865 EHDAA2:0001241 NCIT:C49263 UMLS:C1179157 FMA:62452 EHDAA:7090" "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." "OMIM:300448 ICD10:D46.7 ICD10:D56.0" - "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." "MEDGEN:76097 UMLS:C0280328 SCTID:707427000 NCIT:C8188 DOID:3752" + "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." "UMLS:C0280328 SCTID:707427000 NCIT:C8188 DOID:3752 MEDGEN:76097" "quantification of the volume of white matter in an infant's brain" "PMID:28763065" "The amount of a protein FAM3C when measured in blood serum." @@ -10563,6 +10564,7 @@ "human recurrent squamous cell carcinoma of the buccal mucosa of a Caucasian female (Sigma catalog number 04072103)" "A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns." "BTO:0000902 ZFA:0009114 WBbt:0003675 NCIt:C12612 BTO:0000888 NIFSTD:sao519252327 CALOHA:TS-2032 FBbt:00005074 FMA:67328" + "The Illumina NovaSeq X Plus is a high-throughput sequencing machine developed by Illumina." "The amount of a spermatogenesis-associated protein 31D4 (human) when measured in blood serum." "Quantification of ursodeoxycholate levels in a sample." "PMID:23823483" @@ -11669,7 +11671,7 @@ "Systemic inflammatory response to infection." "UMLS:C0036690" "An inherited susceptibility or predisposition to developing basal cell carcinoma." - "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." "UMLS:C0024437 NCIT:C123330 DOID:4448 MONDO:0003004 MedDRA:10025409 MESH:D008268 MEDGEN:7434 SCTID:422338006" + "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." "UMLS:C0024437 NCIT:C123330 DOID:4448 MONDO:0003004 MESH:D008268 MEDGEN:7434 MedDRA:10025409 SCTID:422338006" "A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies." "HP:0007720 OMIMPS:121400 UMLS:C0344529 Orphanet:53691 GARD:16657 SCTID:204145006 DOID:0060287 MEDGEN:576329 ICD10CM:Q13.4" @@ -12662,7 +12664,7 @@ "Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." "MeSH:D058256" "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." "OMIMPS:600721 Orphanet:79315 UMLS:C1833429 SCTID:237960000 GARD:5661 DOID:0050575 MEDGEN:322192" "Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534)." "EFO:0002468 MA:0001073 TAO:0000553 BM:MB-III EMAPA:35605 UMLS:C0228686 neuronames:492 EV:0100250 NCIT:C12897 MESH:D065838 SCTID:362457000 HBA:9030 MBA:35 DHBA:12198 Wikipedia:Nucleus_of_oculomotor_nerve BIRNLEX:1240 VHOG:0001389 ZFA:0000553 FMA:54510 XAO:0004389 BAMS:3 EHDAA2:0004211 BAMS:III" - "Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." "MESH:D006962 MEDGEN:9368 MedDRA:10020708 NCIT:C113335 UMLS:C0020503 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 MeSH:D006962" + "Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." "MESH:D006962 MEDGEN:9368 NCIT:C113335 UMLS:C0020503 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 MedDRA:10020708 MeSH:D006962" "Quantification of the volume of the frontal lobe of the brain." "PMID:31396565" "Infection of the larynx by Corynebacterium diphtheriae." "MEDGEN:4336 NCIT:C34546 ICD9:032.3 SCTID:50215002 UMLS:C0012557" @@ -13326,7 +13328,7 @@ "OMIM:618356 MEDGEN:1674767 UMLS:C5193049" "icd11.foundation:679333287 GARD:20002 Orphanet:156252" - "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" "MeSH:D020144 UMLS:C0751739 MEDGEN:148381 DOID:10991 MONDO:0006505 MESH:D020144" + "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" "MeSH:D020144 UMLS:C0751739 MEDGEN:148381 MONDO:0006505 DOID:10991 MESH:D020144" "Quantification of palmitoyl-arachidonoyl-glycerophosphocholine (2) in a sample." "A unit which is a standard measure of the flow of electric charge." "A carcinoma that arises from epithelial cells of the exocrine pancreas" "SCTID:372142002 UMLS:C0235974 DOID:4905 OMIM:260350 NCIT:C3850 MONDO:0005192 EFO:0002618 MEDGEN:65917" @@ -13726,7 +13728,7 @@ "OMIM:619083 UMLS:C5436771 GARD:18533 MEDGEN:1725056" "A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion." "DOID:9898 NCIT:C3401 DOID:2702 ONCOTREE:TGCT GARD:7396 ICD9:719.20 NORD:1916 ICDO:9251/0 ICD9:719.28 UMLS:C0039106 ICD10CM:M12.2 Orphanet:66627 ICD9:719.2 MEDGEN:11691 MESH:D013586 SCTID:95412009" "Quantification of the amount of interleukin-17D measurement in a sample." "PMID:36168886" - "Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." "DOID:14041 MESH:D014383 UMLS:C0041310 MeSH:D014383 MONDO:0006743 MEDGEN:52884" + "Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." "DOID:14041 MESH:D014383 UMLS:C0041310 MONDO:0006743 MEDGEN:52884 MeSH:D014383" "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." "ICD10:E75.1 OMIM:230650" "Quantification of istamycin C1 in blood plasma." "KEGG COMPOUND:C17996" "A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION." "ICD9:404.13 ICD9:428 SNOMEDCT:42343007 UMLS:C0018802 SCTID:42343007 ICD9:404.01 NCIt:C3080 ICD9:428.9 NCIT:C3080 ICD9:404.11 MEDGEN:9169 ICD9:428.0 MedDRA:10010684 DOID:6000 MONDO:0005009" @@ -14955,7 +14957,7 @@ "The amount of a far upstream element-binding protein 3 when measured in blood serum." "An inheritable form of hyperlipidemia, in which there are excess lipids in the blood." "OMIM:143890 SNOMEDCT:398036000 UMLS:C0020445 NANDO:2200602 MedDRA:10054380 MEDGEN:5688 MONDO:0005439 OMIM:144010 SCTID:190773008 NCIT:C34704 MeSH:D006938 DOID:13810 OMIM:603776 OMIMPS:143890 ICD9:V19.8" "OMIM:614199 ICD10:N04" - "The lobar bronchus is the major airway within the respiratory tree that starts by division of the principal bronchi on both sides and ends at the point of its own subdivision into tertiary or segmental bronchi[GO]." "SCTID:245509008 Wikipedia:Secondary_bronchus MA:0000437 EHDAA:8213 NCIT:C32998 EHDAA:8187 EMAPA:32696 UMLS:C0225653 EHDAA:8203 EHDAA:4993 FMA:7406 EHDAA:4977 EHDAA:4985 EHDAA:4955 EHDAA:4963 EHDAA:8175 EHDAA:8225" + "The lobar bronchus is the major airway within the respiratory tree that starts by division of the principal bronchi on both sides and ends at the point of its own subdivision into tertiary or segmental bronchi[GO]." "SCTID:245509008 Wikipedia:Secondary_bronchus MA:0000437 EHDAA:8213 NCIT:C32998 EHDAA:8187 EMAPA:32696 UMLS:C0225653 EHDAA:8203 EHDAA:4993 FMA:7406 EHDAA:4985 EHDAA:4977 EHDAA:4955 EHDAA:4963 EHDAA:8175 EHDAA:8225" "The result of a measurement of circulating antibodies specific to a hepatitis A virus antigen." "PMID:37164013" "GARD:11009 Orphanet:280586 OMIM:614078 MEDGEN:481387 DOID:0112224 UMLS:C3279757" "UMLS:C0596227" @@ -15621,7 +15623,7 @@ "MEDGEN:1673640 UMLS:C5193037 OMIM:618339" "Quantification of retinoblastoma-like protein 1 in a sample." "PMID:29875488" "MEDGEN:1673021 UMLS:C5191008 GARD:20947 Orphanet:268261" - "local accumulation of fluid, plasma proteins, and leukocytes in the vagina" "SNOMEDCT:30800001 ICD10:N76 MedDRA:10046916 NCIt:C26911 MP:0003541 MedDRA:10046950 DOID:2170 MeSH:D014627" + "local accumulation of fluid, plasma proteins, and leukocytes in the vagina" "SNOMEDCT:30800001 ICD10:N76 MedDRA:10046916 NCIt:C26911 MP:0003541 MedDRA:10046950 MeSH:D014627 DOID:2170" "Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing." @@ -15696,7 +15698,7 @@ "Any of the light horny epidermal outgrowths that form the external covering of the body of birds and that consist of a shaft bearing on each side a series of barbs which bear barbules which in turn bear barbicels commonly ending in hooked hamuli and interlocking with the barbules of an adjacent barb to link the barbs into a continuous vane." "MAT:0000156 BTO:0000447" "Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." "MedDRA:10018953 UMLS:C0025292 SNOMEDCT:5900006 MESH:D008583 SCTID:5900006 MONDO:0000889 MEDGEN:7535 ICD9:320.0 DOID:10803 DOID:0080179 MeSH:D008583 SCTID:192643004" "Vessels run longitudinally along the horizontal myoseptum. These vessels are not functional until after lumenization which occurs near 4 dpf. Isogai et al. 2003." "ZFA:0005034" - "A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina." "ENVO:02000032 MA:0001286 ZFA:0005561 MESH:D014822 FMA:58822 NCIT:C13323 EV:0100344 VHOG:0000795 BTO:0001451 EMAPA:17837 UMLS:C0229096 Wikipedia:Vitreous_humour CALOHA:TS-0308" + "A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina." "ENVO:02000032 MA:0001286 ZFA:0005561 FMA:58822 MESH:D014822 NCIT:C13323 EV:0100344 VHOG:0000795 BTO:0001451 EMAPA:17837 UMLS:C0229096 Wikipedia:Vitreous_humour CALOHA:TS-0308" "The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." "NCIt:C118475 UMLS:C1692886 MESH:D001170 DOID:813 MedDRA:10021904 NCIT:C26700 MeSH:D001170 ICD9:711.96 ICD9:711.92 UMLS:C3891815 ICD9:711.40 ICD9:711.95 ICD9:711.91 MEDGEN:308434 ICD10:M00 ICD9:711.97 ICD9:711.93 SCTID:48245008 MONDO:0004471 ICD9:711.9 MedDRA:10040057 NCIT:C26699 ICD9:711.94 ICD9:711.0 ICD9:711.90 NANDO:2200437" "Quantification of the change in amygdala volume over time." "PMID:35383335" @@ -16134,7 +16136,7 @@ "A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather." "ICD9:277.0 MeSH:D003550 DOID:1485 SNOMEDCT:190905008 OMIM:219700 ICD9:277.00 SNOMEDCT:190911006 NCIt:C2975" "The amount of a Fos-related antigen 2 when measured in blood serum." - "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." "UMLS:C1335518 MEDGEN:233356 EFO:1000498 NCIT:C5522 DOID:3252 MONDO:0006389" + "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." "MONDO:0006389 UMLS:C1335518 MEDGEN:233356 EFO:1000498 NCIT:C5522 DOID:3252" "Any of six small voluntary muscles that pass between the eyeball and the orbit and control the movement of the eyeball in relation to the orbit." "BTO:0001579 FMA:49033" "a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes." "Orphanet:482 GARD:6835 MESH:D000796 Wikipedia:Kimura's_disease MESH:D000082242 MEDGEN:46183 NCIT:C26867 UMLS:C0033838 DOID:7365 MedDRA:10048640 MONDO:0018830" "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." "SNOMEDCT_US:275478007 UMLS:C1855285 UMLS:C1305420" @@ -16257,7 +16259,7 @@ "quantification of some aspect of sleep quality, such as number of awakenings during a sleep interval or time taken to get to sleep. Sleep quality can be evaluated either through self-reporting, observation in a sleep lab or using a sleep monitoring device" "NCIt:C121705" "The amount of a membrane-associated progesterone receptor component 1 when measured in blood serum." "OMIM:173650" - "A malignant neoplasm involving the pancreas." "NCIT:C9005 OMIM:618680 ICD9:157.2 ICD9:157.0 ICD9:157.8 ICD9:157.1 MONDO:0009831 DOID:1793 NCIt:C9005" + "A malignant neoplasm involving the pancreas." "NCIT:C9005 OMIM:618680 ICD9:157.2 ICD9:157.0 ICD9:157.8 MONDO:0009831 ICD9:157.1 DOID:1793 NCIt:C9005" "Quantification of protocadherin beta-4 in a sample." "PMID:29875488" "An event that has caused the permanent cessation of all vital functions; the end of life. Can be applied to a whole organism or to a part of an organism." @@ -16390,7 +16392,7 @@ "SNOMEDCT:64840009 MeSH:D001413" "a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costa’s acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." "MESH:C535653 MONDO:0007047 Orphanet:38 UMLS:C0545044 MEDGEN:107467 DOID:0060362 GARD:125 OMIM:101850" "DOID:0081156 UMLS:C4540380 MEDGEN:1614928 OMIM:617765" - "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." "EFO:1000336 NCIT:C45540 ICD9:162.9 ONCOTREE:SARCL MEDGEN:353871 UMLS:C1708781 MONDO:0006279 SCTID:707460002 DOID:0080777" + "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." "DOID:0080777 EFO:1000336 NCIT:C45540 ICD9:162.9 ONCOTREE:SARCL MEDGEN:353871 UMLS:C1708781 MONDO:0006279 SCTID:707460002" "ICD10:D55.2" "A benign tumor consisting of vascular and smooth muscle elements." "NCIt:C3747 DOID:4265 SNOMEDCT:86959002 MeSH:D018229" "SNOMEDCT:227105000" @@ -19108,7 +19110,7 @@ "The amount of a protein FAM3A when measured in blood serum." "The amount of a E3 ubiquitin-protein ligase RNF146 when measured in blood serum." - "The thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone." "MA:0000118 Wikipedia:Adrenal_cortex VHOG:0001481 XAO:0000165 CALOHA:TS-0015 BTO:0000045 MESH:D000302 MAT:0000494 UMLS:C0001613 AAO:0011009 EV:0100136 SCTID:362584002 EMAPA:18427 NCIT:C12396 EFO:0000237 FMA:15632 GAID:447" + "The thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone." "MA:0000118 Wikipedia:Adrenal_cortex VHOG:0001481 XAO:0000165 CALOHA:TS-0015 BTO:0000045 MESH:D000302 MAT:0000494 UMLS:C0001613 AAO:0011009 EV:0100136 SCTID:362584002 EMAPA:18427 NCIT:C12396 EFO:0000237 GAID:447 FMA:15632" "Quantification of antibodies to the Epstein-Barr virus viral capsid antigen, typically in serum." "PMID:29868224" "A pervasive developmental disorder that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities." "OMIM:312750 MeSH:D015518 NIFSTD:birnlex_12770 DOID:1206 SNOMEDCT:68618008" @@ -19970,7 +19972,7 @@ "An abnormality of the neck." "UMLS:C0266623 SNOMEDCT_US:298390003 UMLS:C4280628 SNOMEDCT_US:40052002 UMLS:C0575167" - "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." "MONDO:0005087 ICD9:508.8 ICD9:508 ICD10:J98 ICD9:460-519.99 UMLS:C0035204 ICD9:519.1 ICD9:517 NCIt:C26871 ICD10:J99 ICD10:J06 ICD9:516.8 DOID:1579 ICD9:519.3 ICD9:510-519.99 SNOMEDCT:50043002 ICD9:V12.60 SCTID:50043002 ICD10CM:J00-J99 ICD9:508.1 MEDGEN:48421 ICD9:516.9 ICD10:J39 ICD9:517.8 NANDO:1100010 ICD10:J63 ICD9:519 NCIT:C26871 ICD9:519.8 MESH:D012140 ICD9:519.9 ICD9:503 ICD9:516 ICD9:V47.2 ICD9:508.9 ICD9:500-508.99 ICD10:J34" + "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." "MONDO:0005087 ICD9:508.8 ICD9:508 ICD10:J98 ICD9:460-519.99 UMLS:C0035204 ICD9:519.1 ICD9:517 NCIt:C26871 ICD10:J99 ICD9:516.8 ICD10:J06 DOID:1579 ICD9:519.3 ICD9:510-519.99 SNOMEDCT:50043002 ICD9:V12.60 SCTID:50043002 ICD9:508.1 ICD10CM:J00-J99 MEDGEN:48421 ICD9:516.9 ICD10:J39 ICD9:517.8 NANDO:1100010 ICD10:J63 ICD9:519 NCIT:C26871 ICD9:519.8 MESH:D012140 ICD9:519.9 ICD9:503 ICD9:516 ICD9:V47.2 ICD9:508.9 ICD9:500-508.99 ICD10:J34" "Autosomal recessive form of spastic ataxia." "UMLS:C5679900 MEDGEN:1826141 GARD:21403 Orphanet:316240" "Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy." "CS57876 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158900&type=germplasm" @@ -20619,7 +20621,7 @@ "OBSOLETE. A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700)." "MeSH:D000375 OMIM:502000 SNOMEDCT:248280005 NCIt:C16269" "GARD:18402 OMIM:617576 MEDGEN:1617309 DOID:0070165 UMLS:C4539783" "Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved." "MESH:D015864 SNOMEDCT:75614007 Orphanet:280898 MeSH:D015864 MONDO:0017255 ICD9:360.12 HP:0012121 NCIt:C84989 DOID:12030 icd11.foundation:1125547814 MedDRA:10033687 MEDGEN:45303 SCTID:75614007 GARD:8577 NCIT:C84989 UMLS:C0030343" - "A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition." "SCTID:84209002 ICD10CM:F44.0 UMLS:C0236795 MEDGEN:66743 ICD9:300.12 DOID:11037 NCIT:C94328" + "A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition." "SCTID:84209002 UMLS:C0236795 ICD10CM:F44.0 MEDGEN:66743 ICD9:300.12 DOID:11037 NCIT:C94328" "A monocarboxylic acid amide consisting of L-valine in which the amino hydrogens have been replaced by a pentanoyl and a [2'-(1H-tetrazol-5-yl)biphenyl]-4-yl]methyl group. It exhibits antihypertensive activity." "DrugBank:DB00177 KEGG:D00400 CAS:137862-53-4 Wikipedia:Valsartan Patent:US5399578 LINCS:LSM-2993 Drug_Central:2806 Beilstein:7754038 HMDB:HMDB0014323 Reaxys:7754038 Patent:EP443983" "The outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells." "Wikipedia:Stratum_corneum NCIT:C33625 UMLS:C0221921 MA:0000804 FMA:67545 CALOHA:TS-0981 EMAPA:32787 SCTID:361695002 BTO:0000344 AAO:0010597" "quantification of the amount of granulins in a sample" @@ -21292,7 +21294,7 @@ "The amount of a phosphatidylcholine 14:0_16:0 when measured in blood serum." "OMIM:619736 MEDGEN:1809276 UMLS:C5676911 DOID:0081074" - "Inflammation of the myocardium in acute rheumatic heart disease." "DOID:8481 NCIT:C35202 MEDGEN:56370 UMLS:C0155557 ICD9:391.9 SCTID:195136004 ICD9:398.0" + "Inflammation of the myocardium in acute rheumatic heart disease." "NCIT:C35202 MEDGEN:56370 UMLS:C0155557 ICD9:391.9 SCTID:195136004 ICD9:398.0 DOID:8481" "Reduced likelihood of being infected by the hepatitis C virus despite exposure." "A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP)." "ICD9:275.49 MESH:D011556 Orphanet:79445 NCIT:C129722 Orphanet:665 SCTID:237659007 GARD:7860 OMIM:612463 DOID:4183 MEDGEN:10995 NANDO:2200348 UMLS:C0033835" "The amount of a SH3KBP1-binding protein 1 when measured in blood serum." @@ -21460,7 +21462,7 @@ "Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." "ICD9:277.89 OMIM:266150 SCTID:87694001 icd11.foundation:2047948460 MONDO:0009949 NCIt:C85040 NCIT:C85040 MESH:D015324 MEDGEN:18801 MeSH:D015324 NANDO:2200519 GARD:7512 DOID:3651 UMLS:C0034341 Orphanet:3008" "A phenotypic abnormality that is present at birth." "UMLS:C1836142 UMLS:C2752013" "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate." "UMLS:C2700007 Orphanet:289661 icd11.foundation:407807101 GARD:21150 ICDO:9680/3 SCTID:716788007 MEDGEN:397690 NCIT:C80281" - "Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis." "DOID:14041 MESH:D014383 UMLS:C0041310 MeSH:D014383 MONDO:0006743 MEDGEN:52884" + "Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis." "DOID:14041 MESH:D014383 UMLS:C0041310 MONDO:0006743 MEDGEN:52884 MeSH:D014383" "A hereditary spastic paraplegia that is part of a larger syndrome." "MEDGEN:581446 UMLS:C0393556 GARD:19823 NANDO:1200054 SCTID:230261006 Orphanet:102013" "The upper part of the larynx, including the epiglottis; the area above the vocal cords." "NCIT:C12279 FMA:55476 SCTID:361953009" "Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner." "Orphanet:1809 UMLS:C2930953 SCTID:721147000 MESH:C535621 MEDGEN:443941 GARD:280" @@ -21800,7 +21802,7 @@ "UMLS:C3553929 NCIT:C155752 OMIM:614859 DOID:0080478 GARD:15858 MEDGEN:766843 MESH:C566633" "Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy." "UMLS:C4518345 SCTID:734031008 ICD10CM:H47.4 MEDGEN:1392790 Orphanet:324353 GARD:21438" "A congenital malformation with a cleft (gap or opening) in the midline of the face." "UMLS:C4022007" - "A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" "NCIT:C9005 OMIM:618680 ICD9:157.2 ICD9:157.0 ICD9:157.8 ICD9:157.1 MONDO:0009831 DOID:1793 NCIt:C9005" + "A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" "NCIT:C9005 OMIM:618680 ICD9:157.2 ICD9:157.0 ICD9:157.8 MONDO:0009831 ICD9:157.1 DOID:1793 NCIt:C9005" "A wart in the plantar surface of the foot. It is caused by human papillomavirus." "SCTID:63440008 ICD10:B07.0 EFO:1002023 NCIT:C26913 ICD9:078.12 MONDO:0001795 DOID:13775 UMLS:C0042548 ICD10CM:B07.0 MEDGEN:53003 COHD:137785" "A carcinoma that arises from epithelial cells of the penis" "MEDGEN:208877 UMLS:C0853105 DOID:3449 EFO:1000465 NCIT:C9061 SCTID:372106005 GARD:0009366 MONDO:0006360" "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." "ICD9:569.49 MeSH:D011349 SNOMEDCT:3951002 NCIt:C38011 SCTID:3951002 MEDGEN:46113 DOID:3127 NCIT:C38011 MedDRA:10036774 UMLS:C0033246 MESH:D011349 MONDO:0005538" @@ -22321,7 +22323,7 @@ "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis." "MESH:C565170 GARD:15707 UMLS:C3151078 MEDGEN:462428 OMIM:613783 NANDO:2200779" "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene." "UMLS:C3554306 GARD:15891 DOID:0060686 MEDGEN:767220 OMIM:615005" "ICD10:D84.8" - "The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]." "MA:0001361 AAO:0000890 CALOHA:TS-1048 SCTID:182061009 galen:Tibia EFO:0003054 UMLS:C0040184 NCIT:C12800 Wikipedia:Tibia EMAPA:19142 FMA:24476 BTO:0001252 GAID:204 MESH:D013977" + "The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]." "MA:0001361 AAO:0000890 CALOHA:TS-1048 SCTID:182061009 galen:Tibia EFO:0003054 UMLS:C0040184 NCIT:C12800 EMAPA:19142 Wikipedia:Tibia FMA:24476 BTO:0001252 GAID:204 MESH:D013977" "A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals." "MeSH:D048090 MESH:D048090 MONDO:0005678 DOID:3732" "Quantification of the amount of chromogranin-A measurement in a sample." "PMID:36168886" "A procedure to replace diseased bone marrow with transplanted healthy bone marrow cells." "PMID:35379913 NCIT:C15194" @@ -23469,7 +23471,7 @@ "OBSOLETE. Autosomal recessive form of isolated diffuse palmoplantar keratoderma." "GARD:19450 Orphanet:98356" "Quantification of triglycerides in small HDL." - "The respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib." "MA:0003165 SCTID:181746004 BTO:0005281 MESH:D007366 Wikipedia:Intercostal_muscle FMA:13354 EFO:0001368 UMLS:C0021724 VHOG:0000903 EMAPA:18521 GAID:159 MA:0002324 EHDAA2:0000841 NCIT:C32824 EHDAA:5988" + "The respiratory muscles that arise from the lower border of one rib and insert into the upper border of the adjoining rib." "MA:0003165 SCTID:181746004 BTO:0005281 MESH:D007366 Wikipedia:Intercostal_muscle FMA:13354 UMLS:C0021724 EFO:0001368 VHOG:0000903 EMAPA:18521 GAID:159 MA:0002324 EHDAA2:0000841 NCIT:C32824 EHDAA:5988" "The amount of a (R)-oleoylcarnitine when measured in blood." "PMID:37253714" "The amount of a annexin A11 when measured in blood serum." @@ -23494,7 +23496,7 @@ "A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age." "MEDGEN:366028 GARD:671 MESH:C536361 OMIM:105835 SCTID:720984008 Orphanet:63442 MedDRA:10066017 UMLS:C1739384" "Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia." "MEDGEN:1718224 GARD:16524 OMIM:136500 Orphanet:79133 UMLS:C5235196" - "A floor plate that is part of a neural tube [Automatically generated definition]." "ZFA:0001434 EHDAA2:0001256 EHDAA:2871 TAO:0001434 EHDAA:910 VHOG:0000300 EFO:0003688 EMAPA:16165" + "A floor plate that is part of a neural tube [Automatically generated definition]." "ZFA:0001434 EHDAA2:0001256 EHDAA:2871 EHDAA:910 TAO:0001434 VHOG:0000300 EFO:0003688 EMAPA:16165" "MeSH:D055685" @@ -24349,7 +24351,7 @@ "The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates." "MA:0000335 EV:0100079 SAEL:22 MAP:0000001 BTO:0000269 ZFA:0000706 FMA:14543 EMAPA:18939 XAO:0000243" "The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells." "MedDRA:10080703 NCIt:C51948 SNOMEDCT:767002 MeSH:D007958" "The amount of a eukaryotic translation initiation factor 3 subunit B when measured in blood serum." - "The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule." "ZFA:0005290 EMAPA:28287 TAO:0005290 Wikipedia:Proximal_convoluted_tubule EV:0100388 CALOHA:TS-2198 SCTID:362220008 MA:0001669 NCIT:C33417 FMA:17693 UMLS:C1514580" + "The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule." "UMLS:C1514580 ZFA:0005290 EMAPA:28287 TAO:0005290 Wikipedia:Proximal_convoluted_tubule EV:0100388 CALOHA:TS-2198 SCTID:362220008 MA:0001669 NCIT:C33417 FMA:17693" "Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases." "Autosomal dominant form of rhegmatogenous retinal detachment." "Orphanet:209867 MEDGEN:322821 GARD:17104 UMLS:C1836081" "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia." "GARD:12314 UMLS:C3279990 Orphanet:391487 DOID:0111946 MEDGEN:481620 OMIM:614162" @@ -25406,7 +25408,7 @@ "The treatment involving day light as the light of the sun or the artificial light in a growth chamber." - "An inherited susceptibility or predisposition to developing leukemia, acute myeloid." "MEDGEN:477590 UMLS:C3275959" + "An inherited susceptibility or predisposition to developing leukemia, acute myeloid." "UMLS:C3275959 MEDGEN:477590" "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7." "OMIMPS:203100 Orphanet:55 SCTID:63844009 ICD9:270.2 UMLS:C0078918 MEDGEN:36250 NCIT:C84941 MESH:D016115 DOID:0050632 NANDO:1200637 icd11.foundation:1189424097 NANDO:2200986 NANDO:1200641 GARD:10958 NORD:1522" "Quantification of the amount of 3-carboxy-4-methyl-5-propyl-2-furanpropanoate CMPF in a sample." "PMID:24816252" @@ -25551,7 +25553,7 @@ "Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies." "MESH:C566826 Orphanet:60015 MEDGEN:526951 OMIMPS:168500 GARD:16662 HP:0002697 SCTID:718099006 DOID:0060285 UMLS:C0222706" - "An amino cyclitol glycoside that is kanamycin A acylated at the N-1 position by a 4-amino-2-hydroxybutyryl group." "SNOMEDCT:387266001 PMID:19495517 NCIt:C61615 Wikipedia:Amikacin PMID:15305513 PMID:8622103 KEGG:D02543 LINCS:LSM-5935 HMDB:HMDB0014622 PMID:11744283 PMID:8622117 PMID:25296102 MeSH:D000583 PMID:20195673 KEGG:C06820 PMID:25630642 Beilstein:5915117 DrugBank:DB00479 PMID:9327246 PMID:17365906 Patent:US3781268 PMID:25327505 MetaCyc:CPD-14197 PMID:19752274 Patent:DE2234315 Drug_Central:157 SNOMEDCT:48836000 Reaxys:5915117 CAS:37517-28-5 PMID:25339395" + "An amino cyclitol glycoside that is kanamycin A acylated at the N-1 position by a 4-amino-2-hydroxybutyryl group." "SNOMEDCT:387266001 PMID:19495517 NCIt:C61615 Wikipedia:Amikacin PMID:15305513 PMID:8622103 KEGG:D02543 LINCS:LSM-5935 HMDB:HMDB0014622 PMID:11744283 PMID:8622117 PMID:25296102 MeSH:D000583 KEGG:C06820 PMID:20195673 PMID:25630642 Beilstein:5915117 DrugBank:DB00479 PMID:9327246 PMID:17365906 Patent:US3781268 PMID:25327505 MetaCyc:CPD-14197 PMID:19752274 Patent:DE2234315 Drug_Central:157 SNOMEDCT:48836000 Reaxys:5915117 CAS:37517-28-5 PMID:25339395" "Quantification of triacylglycerol 49:1 in a sample." "PMID:35668104" "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." "DOID:0050718 MONDO:0005528" "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome." "OMIMPS:610448 GARD:17874 Orphanet:481662 UMLS:C5688224 MEDGEN:1807766" @@ -25840,7 +25842,7 @@ "McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." "OMIM:300842 MedDRA:10081507" "UMLS:C2874202 MEDGEN:1789612 OMIM:619613" "GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied." - "A disorder involving the attachment of a tendon or ligament to a bone [database_cross_reference: https://en.wikipedia.org/wiki/Enthesopathy]" "ICD10:M76 MEDGEN:66909 MONDO:0002183 ICD9:726.90 ICD10:M77 MedDRA:10014910 MESH:D012216 MESH:D000070676 UMLS:C0242490 DOID:204 ICD9:726.9 SCTID:23680005" + "A disorder involving the attachment of a tendon or ligament to a bone [database_cross_reference: https://en.wikipedia.org/wiki/Enthesopathy]" "MEDGEN:66909 ICD10:M76 MONDO:0002183 ICD9:726.90 ICD10:M77 MedDRA:10014910 MESH:D012216 MESH:D000070676 UMLS:C0242490 DOID:204 ICD9:726.9 SCTID:23680005" "Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." "OMIM:192315" "DOID:0112006 UMLS:C5436498 OMIM:618963 MEDGEN:1735911" "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." "UMLS:C1867801 MEDGEN:401304 MESH:C538278 Orphanet:2957 SCTID:722452004 OMIM:176305 GARD:4470 DOID:0111544" @@ -27196,7 +27198,7 @@ "A sarcoidosis that involves the nervous system." "UMLS:C0393485 MEDGEN:97948 MESH:C535814 SCTID:230193008" "This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." "MEDGEN:394424 GARD:10295 SCTID:723581006 UMLS:C2678045 MESH:C567475 DOID:0111931 OMIM:300707 Orphanet:140952" "A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa." "SNOMEDCT:15845006 MedDRA:10066290 NCIt:C84604 OMIM:610446 MeSH:D054312 DOID:0050456 ICD10:A31.1" - "A hemangioma arising from the subcutaneous soft tissues." "UMLS:C0685200 DOID:13081 MEDGEN:146343 http://www.uphs.upenn.edu/surgery/clinical/Plastic/hemangioma.html EFO:1000707 SCTID:93473009 NCIT:C8540 MONDO:0006557" + "A hemangioma arising from the subcutaneous soft tissues." "UMLS:C0685200 DOID:13081 MEDGEN:146343 http://www.uphs.upenn.edu/surgery/clinical/Plastic/hemangioma.html SCTID:93473009 EFO:1000707 NCIT:C8540 MONDO:0006557" "Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes." "MONDO:0005175" "The amount of a guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 when measured in blood serum." @@ -27363,7 +27365,7 @@ "Quantification of bisecting N-acetyl glucosamine-containing N-glycans of IgG in a biological sample, typically serum" "PMID:28878392" "Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not." "galen:BodyFluid FMA:280556 EMAPA:37441 Wikipedia:Body_fluid MESH:D001826 GAID:266 BIRNLEX:20" - "Subdivision of urinary system which consists of the kidney and the ureters." "NCIT:C61107 galen:UpperUrinaryTract SCTID:181413006 FMA:45658" + "Subdivision of urinary system which consists of the kidney and the ureters." "FMA:45658 NCIT:C61107 galen:UpperUrinaryTract SCTID:181413006" "TUBO cells are a cloned line established in vitro from a BALB-neuT mouse mammary carcinoma. They display membrane class I H-2dMHC glycoproteins and rp185neu proteins. In BALB/c mice, r-p185 is a xenogeneic Ag that differs from mouse rp185 in <6% of the amino residues. Despite these differences, a challenge of 1 x 105 TUBO cells grew progressively in all BALB/c mice and gave rise to lobular carcinomas histologically similar to those that appear in BALB-neuT-transgenic mice. The reactive cell infiltrate associated with TUBO cell growth was marginal. No anti-TUBO cell CTL, nor IFN-gama, nor GM-CSF release were found when Spc from BALB/c mice bearing 3- or 10-mm mean TUBO tumors were tested immediately or after 6 days in in vitro restimulation with TUBO cells. Moreover, no anti-rp185 Ab were detected in the sera of tumor bearing mice. Despite their high membrane expression of the xenogeneic rp185, growing TUBO cells appear to trigger a marginal or no immune reaction in BALB/c mice." "ICD10:Q93.5" "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene." "MEDGEN:934657 UMLS:C4310690 DOID:0080337 OMIM:617156" @@ -27697,7 +27699,7 @@ "quantification of the microstructre of the white matter of the brain" - "A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." "UMLS:C1332852 MEDGEN:232027 MONDO:0006123 HP:0009729 NCIT:C6739 EFO:1000150" + "A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." "UMLS:C1332852 MEDGEN:232027 HP:0009729 MONDO:0006123 NCIT:C6739 EFO:1000150" "A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma." "DOID:0050922 NCIT:C96963 UMLS:C0151544 MONDO:0006181 EFO:1000218 MEDGEN:57467 HP:0002672" "The probability that an event will occur generally with unfavorable outcome." "Dissociation of a sample into individual cells using the Fluidigm C1 platform. Cells are captured on the C1 system (Fluidigm) and processed using the SMARTer chemistry (Clontech) according to the Fluidigm protocol." @@ -28550,7 +28552,7 @@ "Sense organ embedded in the integument and consisting of one or a cluster of sensory neurons and associated sensory structures, support cells and glial cells forming a single organised unit with a largely bona-fide boundary.[FBbt]." "TGMA:0000540 HAO:0000933 MIAA:0000163 Wikipedia:Sensillum BTO:0001237 MAT:0000163 FBbt:00007152 EFO:0000939" "The ability of a pathogen to produce an infectious disease or disorder in an organism." "MeSH:Q000472" - "A member of the class of amphetamines in which the amino group of (S)-amphetamine carries a methyl substituent." "PMID:11406298 PMID:26541330 PMID:18991860 Reaxys:2207147 PMID:18521756 PMID:25724762 PMID:19384581 KEGG COMPOUND:C07164 PMID:15542724 PMID:26775284 PMID:27232669 KEGG COMPOUND:537-46-2 PMID:15808793 ChemIDplus:537-46-2 PMID:26992824 PMID:19576287 CAS:537-46-2 PMID:11831503 NIST Chemistry WebBook:537-46-2 PMID:11711870 PMID:11717374 PMID:11221576 DrugBank:DB01577 PMID:18991862 PMID:11984857 PMID:11829406 MeSH:D008694 PMID:14645148 PMID:26568405 PMID:18509037 NCIt:C61840 KEGG:D08187 PMID:26302754 PMID:26683901 PMID:24349338 KEGG:C07164 PDBeChem:B40 PMID:15380623 PMID:11896153 PMID:15542728 PMID:19732271 SNOMEDCT:8692006 Beilstein:2207147 HMDB:HMDB0015517 SNOMEDCT:387499002 Drug_Central:1732 PMID:18279499 PMID:19269222 ChEMBL:775152 PMID:11847428 Wikipedia:Methamphetamine PMID:14769818" + "A member of the class of amphetamines in which the amino group of (S)-amphetamine carries a methyl substituent." "PMID:11406298 PMID:26541330 PMID:18991860 Reaxys:2207147 PMID:18521756 PMID:25724762 PMID:19384581 KEGG COMPOUND:C07164 PMID:15542724 PMID:26775284 PMID:27232669 KEGG COMPOUND:537-46-2 PMID:15808793 ChemIDplus:537-46-2 PMID:26992824 PMID:19576287 CAS:537-46-2 PMID:11831503 NIST Chemistry WebBook:537-46-2 PMID:11711870 PMID:11717374 DrugBank:DB01577 PMID:11221576 PMID:18991862 PMID:11984857 PMID:11829406 MeSH:D008694 PMID:14645148 PMID:26568405 PMID:18509037 NCIt:C61840 KEGG:D08187 PMID:26302754 PMID:26683901 PMID:24349338 KEGG:C07164 PDBeChem:B40 PMID:15380623 PMID:11896153 PMID:15542728 PMID:19732271 SNOMEDCT:8692006 Beilstein:2207147 HMDB:HMDB0015517 SNOMEDCT:387499002 Drug_Central:1732 PMID:18279499 PMID:19269222 ChEMBL:775152 PMID:11847428 Wikipedia:Methamphetamine PMID:14769818" "Pancolitis is a severe form of ulcerative colitis." "MEDGEN:1720692 UMLS:C0868908 MONDO:0005536 NANDO:1200450 MedDRA:10033573" "The amount of a synaptic vesicle glycoprotein 2A when measured in blood serum." "Narrowing of the urethra associated with inflammation or scar tissue." "UMLS:C0041974 SNOMEDCT_US:236647003 SNOMEDCT_US:76618002" @@ -28722,6 +28724,7 @@ "A large hematopoietic cell (50 to 100 micron) with a lobated nucleus. Once mature, this cell undergoes multiple rounds of endomitosis and cytoplasmic restructuring to allow platelet formation and release." "CALOHA:TS-0611 FMA:83555 NCIt:C12553 BTO:0000843 SNOMEDCT:23592000" "A disease or disorder caused by infection with Anaplasma." "MEDGEN:8053 MESH:D000712 NCIT:C128425 ICD9:082.49 SCTID:427481004 SCTID:13906002 UMLS:C0002797" + "It is the most common clonal somatic alteration in leukocytes of female individuals." "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." "UMLS:C2751067 SCTID:722763000 OMIMPS:613135 GARD:10484 MESH:C567730 NCIT:C129866 MEDGEN:413468 Orphanet:238455" "An embryo root (PO:0000045) that is the basal continuation of a hypocotyl (PO:0020100) in a plant embryo (PO:0009009) or a seedling (PO:0000003)." "A decrease in an individual's ability to walk." @@ -29201,7 +29204,7 @@ "OMIM:610199" "The amount of a EKC/KEOPS complex subunit TPRKB when measured in blood serum." "An astrocytoma that arises from the visual pathway and occurs during childhood." "UMLS:C1333014 NCIT:C7534 MEDGEN:232072 DOID:6575" - "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." "GARD:12356 DOID:0070236 UMLS:C3810012 OMIM:615582 MEDGEN:816342 MONDO:0014262" + "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." "GARD:12356 DOID:0070236 UMLS:C3810012 MEDGEN:816342 OMIM:615582 MONDO:0014262" "Poisoning due to organophosphates (a class of organophosphorus compounds also known as phosphate esters, or OPEs). Organophosphates are used as insecticides, medications, and nerve agents. Symptoms include increased saliva and tear production, diarrhea, vomiting, small pupils, sweating, muscle tremors, and confusion." "MedDRA:10078290 Wikipedia:Organophosphate_poisoning MeSH:68062025" "OMIM:614209 OMIM:249000 OMIM:607361 ICD10:Q61.9 OMIM:603194 OMIM:611134 OMIM:615397 OMIM:613885 OMIM:614175 OMIM:612284 UMLS:C0265215 OMIM:611561 OMIM:616258 OMIM:617562" @@ -29391,7 +29394,7 @@ "The amount of a growth factor receptor-bound protein 14 when measured in blood serum." "Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment." "DECIPHER:59 SCTID:448054001 OMIM:169500 DOID:0060785 GARD:10587 MEDGEN:356995 MESH:C566813 UMLS:C1868512 Orphanet:99027" "Quantification of the frequency which an individual omits to eat breakfast. Breakfast skipping is often considered as a sub-clinical eating disorder." "PMID:31190057" - "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." "MEDGEN:18377 ICD10:I31 UMLS:C0031046 MONDO:0005904 ICD10:I30 DOID:1787 SCTID:3238004 NCIT:C34915 Orphanet:58208 MESH:D010493 MedDRA:10034484 HP:0001701 MeSH:D010493" + "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." "MEDGEN:18377 ICD10:I31 UMLS:C0031046 ICD10:I30 DOID:1787 MONDO:0005904 SCTID:3238004 NCIT:C34915 Orphanet:58208 MESH:D010493 MedDRA:10034484 HP:0001701 MeSH:D010493" "Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." "MONDO:0006809 ICD9:434.1 DOID:4372 MESH:D020766 ICD9:434.10 MeSH:D020766 UMLS:C0752140 MEDGEN:155710 SCTID:75543006" "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." "NANDO:1200857 UMLS:C0000744 MEDGEN:1253 MESH:D000012 NCIT:C84525 NORD:703 NANDO:2200604 OMIM:200100 DOID:1386 Orphanet:14 SCTID:190787008 GARD:5" @@ -30034,7 +30037,7 @@ "A cyclic nonapeptide hormone with amino acid sequence CYIQNCPLG that also acts as a neurotransmitter in the brain; the principal uterine-contracting and milk-ejecting hormone of the posterior pituitary. Together with the neuropeptide vasopressin, it is believed to influence social cognition and behaviour." "PMID:11134819 PMID:19369205 DrugBank:DB00107 PMID:10027619 PMID:19104313 KEGG:D00089 Wikipedia:Oxytocin HMDB:HMDB0002865 Patent:US2938891 PMID:25209411 PMID:24706799 PMID:13305558 PMID:18593851 PMID:10949083 PMID:10949750 KEGG:C00746 Beilstein:3586108 Drug_Central:2042 CAS:50-56-6 Patent:US3076797 PMID:32509991 PMID:19482229 PMID:32683141 PMID:15815422 PMID:32979349 PMID:18988842 PMID:33192340 PMID:10834934 PMID:10983343" "NCIt:C117206" - "A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." "MONDO:0005087 ICD9:508.8 ICD9:508 ICD10:J98 ICD9:460-519.99 UMLS:C0035204 ICD9:519.1 ICD9:517 NCIt:C26871 ICD10:J99 ICD10:J06 ICD9:516.8 DOID:1579 ICD9:519.3 ICD9:510-519.99 SNOMEDCT:50043002 ICD9:V12.60 SCTID:50043002 ICD10CM:J00-J99 ICD9:508.1 MEDGEN:48421 ICD9:516.9 ICD10:J39 ICD9:517.8 NANDO:1100010 ICD10:J63 ICD9:519 NCIT:C26871 ICD9:519.8 MESH:D012140 ICD9:519.9 ICD9:503 ICD9:516 ICD9:V47.2 ICD9:508.9 ICD9:500-508.99 ICD10:J34" + "A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." "MONDO:0005087 ICD9:508.8 ICD9:508 ICD10:J98 ICD9:460-519.99 UMLS:C0035204 ICD9:519.1 ICD9:517 NCIt:C26871 ICD10:J99 ICD9:516.8 ICD10:J06 DOID:1579 ICD9:519.3 ICD9:510-519.99 SNOMEDCT:50043002 ICD9:V12.60 SCTID:50043002 ICD9:508.1 ICD10CM:J00-J99 MEDGEN:48421 ICD9:516.9 ICD10:J39 ICD9:517.8 NANDO:1100010 ICD10:J63 ICD9:519 NCIT:C26871 ICD9:519.8 MESH:D012140 ICD9:519.9 ICD9:503 ICD9:516 ICD9:V47.2 ICD9:508.9 ICD9:500-508.99 ICD10:J34" "UMLS:C0751490 OMIM:268800 ICD10:E75.0" "quantification of the amount of dihomo-gamma-linoleic acid in a sample" "Deficiency of the aminoacylase-1 enzyme" "SCTID:709282004 MESH:C538246 OMIM:609924 Orphanet:137754 MEDGEN:324393 UMLS:C1835922 GARD:9741 MeSH:C538246 MONDO:0012368 ICD9:270.8" @@ -30464,7 +30467,7 @@ "A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions." "MEDGEN:341729 GARD:3401 MESH:C565619 OMIM:223330 Orphanet:2464 UMLS:C1857227" "The amount of a osteocrin when measured in blood serum." "A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections." "NCIT:C4173 DOID:5446 MEDGEN:137747 UMLS:C0334350 SCTID:253021007 ICDO:8408/0" - "A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." "SCTID:62557001 Orphanet:71274 GARD:0012843 EFO:1000220 NCIT:C3958 UMLS:C0267785 GARD:12843 MEDGEN:78634 MONDO:0006183 DOID:5728 ICD10:D20.1" + "A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously." "SCTID:62557001 Orphanet:71274 GARD:0012843 EFO:1000220 UMLS:C0267785 NCIT:C3958 GARD:12843 MEDGEN:78634 MONDO:0006183 DOID:5728 ICD10:D20.1" "OMIM:615327 MedDRA:10068651 OMIM:179850 OMIM:615696 OMIM:615674 ICD10:L81.8" "OMIM:610379 UMLS:C1835867 MEDGEN:372145" @@ -31016,7 +31019,7 @@ "The amount of a peptidyl-prolyl cis-trans isomerase FKBP3 when measured in blood serum." "Gaucher's disease" "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." "ICD10:M93.2 OMIM:165700" - "The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]." "SCTID:181948009 FMA:23466 VSAO:0005013 UMLS:C0041600 GAID:188 AAO:0000789 EMAPA:19104 MESH:D014457 Wikipedia:Ulna MA:0001358 galen:Ulna NCIT:C12809" + "The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]." "FMA:23466 SCTID:181948009 VSAO:0005013 UMLS:C0041600 GAID:188 AAO:0000789 EMAPA:19104 MESH:D014457 Wikipedia:Ulna MA:0001358 galen:Ulna NCIT:C12809" "A neoplasm (disease) that involves the gall bladder." "MONDO:0021253 MeSH:D005706 MESH:D005706 NCIT:C3048 MEDGEN:42134 UMLS:C0016978" @@ -31034,14 +31037,14 @@ "The determination of the amount of lymphocyte activation gene 3 protein in a sample" "PMID:28240269" "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria." "MESH:D045825 MeSH:D045825 UMLS:C1258222 MEDGEN:263530 DOID:563 MONDO:0006925" "An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." "NCIt:C6416" - "Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MONDO:0006031 MEDGEN:101751 NCIT:C35151 ICD9:473.8 PMID:25838086" + "Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MEDGEN:101751 MONDO:0006031 NCIT:C35151 ICD9:473.8 PMID:25838086" "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." "MEDGEN:1647210 OMIMPS:208085 SCTID:720513002 DOID:0050763 MESH:C535382 Orphanet:2697 GARD:794 UMLS:C4551984" "A specialized examination or inspection meant to identifying an increased risk of neoplasm." "MESH:C565029 HP:0002219 OMIM:134000" "FMA:25202" "quantification of some aspect of cognitive decline such as the rate at which it occurs or its severity, for example in patients with dementia or Alzheimer's disease. Cognitive decline is ususally assessed using a structured-interview protocol covering a number of standardised areas." - "The inner layer of the trophoblast, interior to the syncytiotrophoblast in an embryo. It serves to anchor the embryonic chorion to the maternal endometrium. Cytotrophoblasts are stem cells in the chorionic villi. During differentiation, mononuclear cytotrophoblast fuse together into the multinucleated syncytiotrophoblasts. The primary villi has only the cytotrophoblast as an axe. [WP,unvetted]." "EHDAA:127 EHDAA:152 VHOG:0000683 EMAPA:16067 NCIT:C33919 EHDAA:89 UMLS:C0230960 Wikipedia:Cytotrophoblast SCTID:308841008 FMA:83039 BTO:0000322" + "The inner layer of the trophoblast, interior to the syncytiotrophoblast in an embryo. It serves to anchor the embryonic chorion to the maternal endometrium. Cytotrophoblasts are stem cells in the chorionic villi. During differentiation, mononuclear cytotrophoblast fuse together into the multinucleated syncytiotrophoblasts. The primary villi has only the cytotrophoblast as an axe. [WP,unvetted]." "EHDAA:152 EHDAA:127 VHOG:0000683 EMAPA:16067 NCIT:C33919 EHDAA:89 UMLS:C0230960 Wikipedia:Cytotrophoblast SCTID:308841008 FMA:83039 BTO:0000322" "Opportunistic fungal infection by a member of ALTERNARIA genus." "MeSH:D060487 SNOMEDCT:238426005" "An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium." "NCIT:C5462 UMLS:C1334238 DOID:7903 MEDGEN:232660" "A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable." "MEDGEN:232941 UMLS:C1321220 DOID:2996 NCIT:C5241" @@ -31247,7 +31250,7 @@ "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis." "MEDGEN:1684656 UMLS:C1405301 DOID:0050515" "The age at which type 2 diabetes mellitus manifestations first appear." "An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." "NORD:1090 MedDRA:10014663 NCIT:C98922 MEDGEN:4041 NANDO:2200235 MESH:D004695 ICD9:425.3 UMLS:C0014117 OMIM:226000 ICD10CM:I42.4 MeSH:D004695 SCTID:65457005 GARD:6336 DOID:12929 MONDO:0009169 Orphanet:2022 NANDO:2100060 icd11.foundation:1971033419" - "A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion." "ICD10CM:D02.1 NCIT:C3639 UMLS:C0154070 ICD9:231.1 MEDGEN:57816 SCTID:92772005 DOID:8802" + "A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion." "ICD10CM:D02.1 NCIT:C3639 UMLS:C0154070 MEDGEN:57816 ICD9:231.1 SCTID:92772005 DOID:8802" "Tumors of the SALIVARY GLANDS." "ICD10:D11 MedDRA:10061497 DOID:8850 MeSH:D012468 NCIt:C3361" "A primary or metastatic malignant neoplasm involving the lip." "EFO:1001019 ICD9:140.6 ICD10:C00 ICD9:140 NCIT:C7485 MEDGEN:57548 DOID:8564 MESH:D008048 SCTID:187622006 ICD10:C00.9 ICD9:140.8 UMLS:C0153340 ICD10CM:C00 ICD9:140.5 MedDRA:10007089 MONDO:0006834" "The amount of a staphylococcal nuclease domain-containing protein 1 when measured in blood serum." @@ -31502,7 +31505,7 @@ "The amount of a UL-16 binding protein 5 when measured in blood serum." "Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" "ICD9:377.01 SCTID:73221001 SCTID:423341008 MESH:D010211 ICD9:377.0 ICD9:377.00 ICD9:377.31 ICD9:362.83 MeSH:D010211 SCTID:6141006 ICD10:H46.0 DOID:10175 MedDRA:10030948 SNOMEDCT:73221001 MONDO:0006879" "HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100 HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50" - "The middle ear is the air-filled cavity within the skull of vertebrates that lies between the outer ear and the inner ear. It is linked to the pharynx (and therefore to outside air) via the Eustachian tube and in mammals contains the three ear ossicles, which transmit auditory vibrations from the outer ear (via the tympanum) to the inner ear (via the oval window)[GO]." "SCTID:181185000 EV:0100357 VHOG:0000312 EHDAA:5693 EHDAA2:0001181 BTO:0002099 CALOHA:TS-2233 NCIT:C12274 AAO:0011065 Wikipedia:Middle_ear MIAA:0000146 MAT:0000146 XAO:0000191 UMLS:C1268972 FMA:56513 MESH:D004432 UMLS:C0013455 EMAPA:17000 MA:0000253 GAID:165 BIRNLEX:1695" + "The middle ear is the air-filled cavity within the skull of vertebrates that lies between the outer ear and the inner ear. It is linked to the pharynx (and therefore to outside air) via the Eustachian tube and in mammals contains the three ear ossicles, which transmit auditory vibrations from the outer ear (via the tympanum) to the inner ear (via the oval window)[GO]." "SCTID:181185000 EV:0100357 VHOG:0000312 EHDAA2:0001181 EHDAA:5693 BTO:0002099 CALOHA:TS-2233 NCIT:C12274 AAO:0011065 Wikipedia:Middle_ear MIAA:0000146 MAT:0000146 XAO:0000191 UMLS:C1268972 FMA:56513 MESH:D004432 UMLS:C0013455 EMAPA:17000 MA:0000253 GAID:165 BIRNLEX:1695" "A carcinoma in situ involving a lung." "DOID:8800 ICD9:231.2 SCTID:92649001 MEDGEN:146894 UMLS:C0685053 NCIT:C27467" "MEDGEN:1824079 UMLS:C5774306 OMIM:620233" @@ -31528,7 +31531,7 @@ "ICD10:E88.1" "GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms." "Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported." "UMLS:C4706935 SCTID:764500002 Orphanet:96107 GARD:19321 MEDGEN:1636588" - "INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 MEDGEN:14586 NCIt:C3306 MedDRA:10033645 SCTID:75694006 MESH:D010195" + "INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 SCTID:75694006 MEDGEN:14586 NCIt:C3306 MedDRA:10033645 MESH:D010195" "Virus diseases caused by coronaviridae." "UMLS:C0010078 MEDGEN:40491 MeSH:D003333 DOID:2948 MONDO:0005718" "CLO:0009902 NCIt:C117169 BTO:0003772 RRID:CVCL_1689" "Quantification of killer cell immunoglobulin-like receptor 2DL5A in a sample." "PMID:29875488" @@ -31564,7 +31567,7 @@ "Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner." "UMLS:C1836474 Orphanet:284324 MEDGEN:324520 DOID:0080059 OMIM:609270 MESH:C563753 GARD:12232" "DOID:6582 NCIt:C6939 NCIt:C7689 NCIt:C5160 SNOMEDCT:35232005 NCIt:C7690" "Aplastic anemia without a known cause." "NCIT:C61230 SCTID:191256002 MESH:C538494 NANDO:1200296 NANDO:2201276 OMIM:609135 icd11.foundation:1615519452 UMLS:C0348890 MEDGEN:87595 ICD10CM:D61.3 Orphanet:88 GARD:5836 ICD10CM:D61.0" - "KEGG:D07967 PDBeChem:ZK5 Patent:GB792224 MeSH:D005438 Wikipedia:Fludrocortisone KEGG:C07004 LIPID_MAPS_instance:LMST02030103 SNOMEDCT:116586002 Beilstein:3014278 NCIt:C71629 CAS:127-31-1 DrugBank:DB00687 Patent:US2852511" + "KEGG:D07967 PDBeChem:ZK5 Patent:GB792224 MeSH:D005438 Wikipedia:Fludrocortisone KEGG:C07004 SNOMEDCT:116586002 LIPID_MAPS_instance:LMST02030103 Beilstein:3014278 NCIt:C71629 CAS:127-31-1 DrugBank:DB00687 Patent:US2852511" "An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs." "ICD9:270.2 SCTID:190694001 DOID:9275 UMLS:C0268483 MEDGEN:78682 NCIT:C98640 MESH:D020176 ICD10CM:E70.21 OMIMPS:276700" "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females." "UMLS:C0431648 Orphanet:247775 OMIM:277000 GARD:4737 MEDGEN:140915 ICD9:752.49 DOID:0112178" @@ -32160,7 +32163,7 @@ "A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma." "DOID:3861 NCIT:C3706 ICDO:9472/3 MEDGEN:104731 EFO:1000368 MONDO:0006300 UMLS:C0205833 ONCOTREE:MMB" "Quantification of the amount of X-12771 in a sample." "PMID:24816252" - "NCIt:C117189 RRID:CVCL_0526 MCC:0000426 CLO:0009043 BTO:0002131" + "NCIt:C117189 MCC:0000426 RRID:CVCL_0526 CLO:0009043 BTO:0002131" "The amount of a normal mucosa of esophagus-specific gene 1 protein when measured in blood serum." "Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum." "UMLS:C2700265 MEDGEN:398443 MESH:C536463 GARD:5520 ICD10CM:E70.3 Orphanet:895 NCIT:C75009" @@ -33096,7 +33099,7 @@ "Quantification of the amount of X-24728 in a sample." "PMID:35347128" "A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement." - "Human T cell leukemia cell line, expresses relatively high levels of the larger PTPRC/CD45 isoforms relative to isoform CD45R0" "PMID:10594010 RRID:CVCL_XF44" + "Human T cell leukemia cell line, expresses relatively high levels of the larger PTPRC/CD45 isoforms relative to isoform CD45R0" "RRID:CVCL_XF44 PMID:10594010" "CS57549 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158573&type=germplasm" "A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)" "SNOMEDCT:87364003 MedDRA:10029260 NANDO:2200040 Orphanet:635 ONCOTREE:NBL NCIT:C3270 ICDO:9500/3 NCIt:C3270 OMIM:613014 MONDO:0005072 OMIM:613013 NIFSTD:birnlex_12631 MESH:D009447 UMLS:C0027819 MeSH:D009447 MEDGEN:18012 OMIM:256700 SCTID:432328008 GARD:7185 DOID:769 SNOMEDCT:432328008" "The determination of the number of eosinophilic myelocytes in a blood sample. [ NCI ]" "UMLS:C2827510 NCIt:C84821" @@ -33208,7 +33211,7 @@ "The post-cranial structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins." "TAO:0000317 EHDAA:5049 MA:0000308 NCIt:C32172 NCIt:C12998 SAEL:121 NIFSTD:sao1145756102 FMA:13478 AAO:0000034 MeSH:D013131 EMAPA:17214 ZFA:0000317" "The amount of a latexin when measured in blood serum." "Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation." "SCTID:765197008 Orphanet:206546 UMLS:C4707359 GARD:20350 MEDGEN:1631985" - "Overproduction of parathyroid hormone in response to influence external to the parathyroid glands." "MESH:D006962 MEDGEN:9368 MedDRA:10020708 NCIT:C113335 UMLS:C0020503 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 MeSH:D006962" + "Overproduction of parathyroid hormone in response to influence external to the parathyroid glands." "MESH:D006962 MEDGEN:9368 NCIT:C113335 UMLS:C0020503 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 MedDRA:10020708 MeSH:D006962" "A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface." "NCIT:C101201 Orphanet:268744 NANDO:2200814 NANDO:2100215 NANDO:1200509 GARD:20958 icd11.foundation:979482551 UMLS:C0037917 MEDGEN:21277 MESH:D016137 MedDRA:10071011" "SNOMEDCT:33436009 MeSH:D060054 NCIt:C86011" "Lateral line sensory nucleus located in the cerebellum that processes sensory input from the lateral line." "ZFA:0000291" @@ -33556,7 +33559,7 @@ "An unusual form of phenotypic type 1 diabetes with almost complete insulin deficiency, a strong hereditary component, and no evidence of autoimmunity." "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45." "UMLS:C1867743" "Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A." "GARD:10430 SCTID:230437002 NCIT:C116573 MEDGEN:148243 NANDO:2200877 NANDO:1200587 DOID:0080422 NORD:1061 UMLS:C0751122 ICD9:345.10 DOID:0060171" - "The monohydrate of (+)-catechin." "Chemspider:97077 PMID:24048981 PMID:32613640 PMID:10651166 PMID:29458270 CiteXplore:10651166 \"PubMed citation\" PMID:19501612 CAS:88191-48-4 PMID:25218093 ChemIDplus:88191-48-4 \"CAS Registry Number\" PMID:29604256 PMID:24825545 PMID:24266106 PMID:26653744" + "The monohydrate of (+)-catechin." "Chemspider:97077 PMID:24048981 PMID:32613640 PMID:10651166 PMID:29458270 CiteXplore:10651166 \"PubMed citation\" PMID:19501612 CAS:88191-48-4 PMID:25218093 ChemIDplus:88191-48-4 \"CAS Registry Number\" PMID:29604256 PMID:24825545 PMID:26653744 PMID:24266106" "Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16." "FBbt:00005037" "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." "MeSH:C536605 ICD10:Q84.2 OMIM:145701" "A hydroxycoumarin that is coumarin in which the hydrogen at position 4 is replaced by a hydroxy group." "Reaxys:129768 PMID:18007464 CAS:1076-38-6 PDBeChem:4HC MetaCyc:CPD-12111 PMID:19757094" @@ -33754,7 +33757,7 @@ "The chemical reactions and pathways involving a protein. Includes protein modification." "Wikipedia:Protein_metabolism" - "A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." "MeSH:C565768 MONDO:0013681 UMLS:C3280428 GARD:15787 SCTID:700463002 NCIT:C119677 DOID:0060602 MESH:C565768 MEDGEN:482058 NCIt:C119677 NANDO:1200768 OMIM:614307" + "A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy." "MeSH:C565768 MONDO:0013681 UMLS:C3280428 GARD:15787 SCTID:700463002 NCIT:C119677 MESH:C565768 DOID:0060602 MEDGEN:482058 NCIt:C119677 NANDO:1200768 OMIM:614307" "OMIM:613328 ICD10:Q87.8" "The determination of the amount of 4-oxo-retinoic acid in a blood sample" "PubChem:6437063 CAS:38030-57-8" "UMLS:C1850778 MEDGEN:342587" @@ -34164,7 +34167,7 @@ "Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease." "MEDGEN:3622 DOID:3362 MONDO:0006714 HP:0030882 SCTID:50570003 ICD9:414.11 MedDRA:10002348 MeSH:D003323 ICD10:I25.4 SNOMEDCT:50570003 MESH:D003323 UMLS:C0010051" "Orphanet:447977 OMIM:616852 GARD:17779 MEDGEN:905125 UMLS:C4225181" - "Orphanet:500180 DOID:0070474 OMIM:617672 MEDGEN:1626007 GARD:13658 UMLS:C4540086" + "Orphanet:500180 DOID:0070474 OMIM:617672 MEDGEN:1626007 UMLS:C4540086 GARD:13658" "Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys." "GARD:1163 MESH:C537713 Orphanet:1123 UMLS:C2931593 SCTID:726621009 MEDGEN:419843" "OMIM:607831 OMIM:607706 ICD10:G60.0" "genome-wide profiling of gene expression in situ in fixed cells and tissues, in which RNA is converted into cross-linked cDNA amplicons and sequenced manually on a confocal microscope" "PMID:25675209" @@ -34329,7 +34332,7 @@ "A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid." "KEGG:C00059 PMID:14597181 PMID:15984785 CAS:14808-79-8 Wikipedia:Sulfate PMID:19812358 PMID:18815700 PMID:16534979 Beilstein:3648446 PMID:17420092 PMID:18846414 KEGG:D05963 PDBeChem:SO4 PMID:16348007 PMID:17439666 PMID:17120760 MetaCyc:SULFATE PMID:16186560 HMDB:HMDB0001448 PMID:15093386 PMID:19244483 PMID:12668033 PMID:30398859 PMID:19628332 PMID:16656509 PMID:16483812 PMID:11798107 PMID:19544990 PMID:16345535 PMID:18398178 PMID:19047345 Reaxys:3648446 PMID:16742518 Gmelin:2120 PMID:17709180 PMID:16742508 PMID:11200094 PMID:16347366 PMID:11581495 PMID:12166931 PMID:11452993" "The number of cell passages if the organism or organism part that is cultured is unicellular or a cell culture; otherwise the number of generations." "NCIt:C88214 MO:43 NCIt:C48151" "The group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)." "EHDAA:5567 Wikipedia:Geniculate_ganglion EHDAA:6644 NCIT:C12721 EHDAA2:0004623 FMA:53414 GAID:718 EFO:0003669 MA:0001076 SCTID:279076005 BAMS:GgVII ZFA:0001291 EHDAA2:0000491 MESH:D005830 TAO:0001291 EMAPA:17569 VHOG:0000707 neuronames:1535 UMLS:C0017406" - "Chronic form of sinusitis." "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MONDO:0006031 MEDGEN:101751 NCIT:C35151 ICD9:473.8 PMID:25838086" + "Chronic form of sinusitis." "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MEDGEN:101751 MONDO:0006031 NCIT:C35151 ICD9:473.8 PMID:25838086" "Quantification of cholesteryl ester 24:1 in a sample." "PMID:35668104" "Quantification of the amount of X-10346 in a sample." "PMID:24816252" @@ -34378,7 +34381,7 @@ "Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus." "MESH:D002418" "Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients." "UMLS:C0796081 GARD:2572 NCIT:C123815 SCTID:699316006 ICD9:759.89 NORD:1481 Orphanet:2588 OMIM:139210 MEDGEN:167103 MESH:C537620" - "quantification of the ratio of the protein albumin to globulin in the blood serum" "PMID:29403010 http://www.ebi.ac.uk/efo/EFO_0005128" + "quantification of the ratio of the protein albumin to globulin in the blood serum" "http://www.ebi.ac.uk/efo/EFO_0005128 PMID:29403010" "The amount of a RNA-binding Raly-like protein when measured in blood serum." "A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales." "MA:0000152 AAO:0000128 BTO:0000294 ZFA:0001119 FMA:70323 MAT:0000153 EMAPA:17527 EV:0100154 XAO:0000217 SAEL:27" "An HODE (hydroxyoctadecadienoic acid) in which the double bonds are at positions 9 and 11 (E and Z geometry, respectively) and the hydroxy group is at position 13 (with S-configuration)." "PMID:26331820 Reaxys:3549663 KEGG:C14762 PDBeChem:243 PMID:25786212 LIPID_MAPS_instance:LMFA02000228 PMID:16997127 CAS:29623-28-7 KNApSAcK:C00000403" @@ -36715,7 +36718,7 @@ "Quantification of some aspect of the use of antidepressant drugs." "PMID:31015401" "The amount of a dual specificity protein phosphatase 15 when measured in blood serum." "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." "UMLS:C1835884" - "A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." "MONDO:0005542 UMLS:C0948089 MeSH:D054058 SNOMEDCT:394659003 MESH:D054058 MEDGEN:215295 NCIt:C53652 SCTID:394659003 NCIT:C53652 MedDRA:10051592" + "A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." "MONDO:0005542 UMLS:C0948089 MeSH:D054058 SNOMEDCT:394659003 MESH:D054058 MEDGEN:215295 NCIt:C53652 SCTID:394659003 MedDRA:10051592 NCIT:C53652" "A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins." "MESH:D005892 MeSH:D005892 SCTID:186963008 SNOMEDCT:707792000 MONDO:0006865 MEDGEN:42219 UMLS:C0017575 NCIT:C34637 DOID:13924 ICD9:101 NCIt:C34637" "quantification of the amount of kallistatin in a sample" @@ -36726,7 +36729,7 @@ "Quantification of uridine diphosphate glucose levels in a sample." "PMID:23823483" "The amount of a glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 when measured in blood serum." - "Inflammation of the pancreas." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 MEDGEN:14586 NCIt:C3306 MedDRA:10033645 SCTID:75694006 MESH:D010195" + "Inflammation of the pancreas." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 SCTID:75694006 MEDGEN:14586 NCIt:C3306 MedDRA:10033645 MESH:D010195" "A disease involving the pituitary gland." "MONDO:0003381 ICD9:253.8 ICD9:253.1 ICD9:253.9 MESH:D010900 NCIT:C26854 MEDGEN:45934 UMLS:C0032002 DOID:53 SCTID:399244003 ICD10:E23" "The amount of a carbohydrate sulfotransferase 10 when measured in blood serum." @@ -36950,7 +36953,7 @@ "human herpesvirus 7 seropositivity is the result of a measurement of circulating human herpesvirus 7 specific antibodies" "PMID:33204752" "A benign adipose tissue neoplasm of the external ear." "MEDGEN:91130 ICD9:215.0 SCTID:188988008 UMLS:C0347423 NCIT:C4618 DOID:10203" "Quantification of suberic acid levels in a sample." "PMID:23823483" - "The duct of a salivary gland." "Wikipedia:Salivary_duct EMAPA:35750 NCIT:C32486 MA:0001586 GAID:939 SCTID:181238004 BTO:0005115 FMA:59908 MESH:D018987" + "The duct of a salivary gland." "Wikipedia:Salivary_duct EMAPA:35750 NCIT:C32486 MA:0001586 GAID:939 BTO:0005115 SCTID:181238004 FMA:59908 MESH:D018987" "Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions." "OMIM:605946 UMLS:C1853825 MEDGEN:381277 GARD:16738 SCTID:717221005 Orphanet:85188 MESH:C565271" "Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)" "DOID:12052 MESH:D016919 MedDRA:10011487 DOID:0080159 MeSH:D016919 NCIT:C174113 MONDO:0005723 ICD9:321.0 SCTID:14232007 MEDGEN:88410 UMLS:C0085436" "A Mus musculus individual that is a substrain of C57BL/6J (mother) and CAST/EiJ (father)." "https://orcid.org/0000-0002-3163-0115 PMID:27668657" @@ -37045,7 +37048,7 @@ "NANDO:2201209 GARD:20508 Orphanet:216986 MEDGEN:1826101 UMLS:C5680869 NANDO:1200065" "Quantification of the amount of X-11530 in a sample." "PMID:24816252" "An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions." "DOID:11340 MEDGEN:163415 MeSH:D016720 UMLS:C0851886 MESH:D016720 MONDO:0005923" - "A malignant neoplasm involving the lacrimal gland." "MEDGEN:56315 UMLS:C0153627 SCTID:127004000 NCIT:C3563 ICD9:239.89 DOID:294 ICD9:190.2" + "A malignant neoplasm involving the lacrimal gland." "MEDGEN:56315 SCTID:127004000 UMLS:C0153627 NCIT:C3563 ICD9:239.89 DOID:294 ICD9:190.2" "Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis." "MEDGEN:5288 Orphanet:349 NANDO:1200130 NCIT:C61274 DOID:14500 SCTID:64716005 NANDO:2200553 OMIM:230000 UMLS:C0016788 MESH:D005645 NORD:1168 ICD9:271.8 GARD:6473" "Quantification of the amount of 1,3-dimethylurate in a sample." "PMID:35347128" "MEDGEN:1785711 GARD:18273 UMLS:C5543280 OMIM:619271" @@ -37230,7 +37233,7 @@ "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." "NORD:1143 MedDRA:10068715 SCTID:82725007 NANDO:2201020 MESH:D009221 ICD9:728.11 Orphanet:337 OMIM:135100 DOID:13374 GARD:6445 MEDGEN:4698 NANDO:1200871 UMLS:C0016037 NCIT:C3040 icd11.foundation:2102976705" "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." "OMIM:613762 OMIM:154230 OMIM:233420 UMLS:C2936694 ICD10:Q97.3 OMIM:300018 OMIM:613080 OMIM:400044 OMIM:612965 OMIM:616425" - "A phenothiazine derivative in which the phenothiazine tricycle carries a chloro substituent at the 2-position and a 3-[4-(2-hydroxyethyl)piperazin-1-yl]propyl group at N-10." "MeSH:D010546 DrugBank:DB00850 KEGG DRUG:D00503 NCIt:C29355 SNOMEDCT:41147003 HMDB:HMDB0014988 PMID:27150024 PMID:1650428 ChemIDplus:58-39-9 CAS:58-39-9 KEGG COMPOUND:58-39-9 Beilstein:54730 NIST Chemistry WebBook:58-39-9 KEGG COMPOUND:C07427 Reaxys:54730 KEGG:D00503 PMID:26660173 PMID:14401911 Patent:US2860138 LINCS:LSM-2224 Wikipedia:Perphenazine Patent:US2766235 SNOMEDCT:387229007 KEGG:C07427 Drug_Central:2113 PMID:15674907 CiteXplore:1650428" + "A phenothiazine derivative in which the phenothiazine tricycle carries a chloro substituent at the 2-position and a 3-[4-(2-hydroxyethyl)piperazin-1-yl]propyl group at N-10." "MeSH:D010546 DrugBank:DB00850 KEGG DRUG:D00503 NCIt:C29355 SNOMEDCT:41147003 HMDB:HMDB0014988 PMID:27150024 PMID:1650428 ChemIDplus:58-39-9 CAS:58-39-9 KEGG COMPOUND:58-39-9 Beilstein:54730 KEGG COMPOUND:C07427 NIST Chemistry WebBook:58-39-9 Reaxys:54730 KEGG:D00503 PMID:26660173 PMID:14401911 Patent:US2860138 LINCS:LSM-2224 Wikipedia:Perphenazine Patent:US2766235 SNOMEDCT:387229007 KEGG:C07427 Drug_Central:2113 PMID:15674907 CiteXplore:1650428" "The amount of a protein phosphatase 1 regulatory subunit 29 when measured in blood serum." "Quantification of leucine-rich repeat neuronal protein 1 in a sample." "PMID:29875488" @@ -38242,7 +38245,7 @@ "Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents." "UMLS:C1832432 SCTID:726735000 MESH:C563338 Orphanet:1027 MEDGEN:321955 GARD:16554 OMIM:601360" - "The polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein." "UMLS:C0227518 Wikipedia:Lobules_of_liver SCTID:362194004 NCIT:C32732 MA:0002494 EMAPA:35499 FMA:14471" + "The polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein." "UMLS:C0227518 Wikipedia:Lobules_of_liver NCIT:C32732 SCTID:362194004 MA:0002494 EMAPA:35499 FMA:14471" "Quantification of zinc finger protein 180 in a sample." "PMID:29875488" "A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated." "OMIM:600176 UMLS:C1838491 MEDGEN:333107 Orphanet:2798 SCTID:763861000 MESH:C538091 GARD:409" @@ -38391,7 +38394,7 @@ "Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." "UMLS:C3537440 NANDO:2201234 NANDO:1200162 Orphanet:411629 MEDGEN:760976 GARD:9755 ICD10EXP:E72.0+ ICD10EXP:N16.3*" "A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)" "MESH:D000405 SCTID:53333005 DOID:4267 MEDGEN:7942 MeSH:D000405 MedDRA:10001542 UMLS:C0001889 MONDO:0005640" "The amount of a neuromedin-U when measured in blood serum." - "Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]." "WikipediaCategory:Skull CALOHA:TS-2344 MESH:D012886 SCTID:110530005 EHDAA2:0000325 NCIT:C12789 GAID:82 Wikipedia:Skull FMA:46565 UMLS:C0037303 BTO:0001295 EMAPA:17680 galen:Skull" + "Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]." "WikipediaCategory:Skull CALOHA:TS-2344 MESH:D012886 SCTID:110530005 NCIT:C12789 EHDAA2:0000325 GAID:82 Wikipedia:Skull FMA:46565 UMLS:C0037303 BTO:0001295 EMAPA:17680 galen:Skull" "The amount of a Ran GTPase-activating protein 1 when measured in blood serum." "6-Deoxoteasterone in which the hydroxy group at position 3 has been oxidised to the corresponding ketone." "LIPID_MAPS_instance:LMST01030125 KNApSAcK:C00007274 KEGG:C15800 PMID:17138693 Beilstein:7387822" "The amount of a interleukin-31 when measured in blood serum." @@ -39107,7 +39110,7 @@ "OMIM:616280 ICD10:G60.0" "The amount of a transmembrane protein 132A when measured in blood serum." "Orphanet:140456 GARD:19924" - "A squamous cell carcinoma arising from the mucosa of the anal canal." "Orphanet:424019 UMLS:C1332262 GARD:21774 NCIT:C7469 DOID:7177 MEDGEN:233979 icd11.foundation:585238371" + "A squamous cell carcinoma arising from the mucosa of the anal canal." "Orphanet:424019 UMLS:C1332262 GARD:21774 NCIT:C7469 DOID:7177 icd11.foundation:585238371 MEDGEN:233979" "OMIM:617661 OMIM:618845 OMIM:617660" "human multiple myeloma cell line from a 77 year old female" @@ -39165,7 +39168,7 @@ "Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." "OMIM:300455" "human hepatocellular carcinoma cell line from a 51 year old Japanese male with hepatocellular carcinoma" - "RRID:CVCL_1261 CLO:0003650" + "CLO:0003650 RRID:CVCL_1261" "A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE)." "SCTID:200938002 UMLS:C5574816 Orphanet:90281 NCIT:C26820 icd11.foundation:2144907708 GARD:19131 ICD10CM:L93.0 MEDGEN:1811126 MESH:D008179 MedDRA:10013072" "ZFA:0000787" "Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality." "MESH:D030243 DOID:5115 MeSH:D001912 MONDO:0005679 MESH:D001912" @@ -39589,7 +39592,7 @@ "Quantification of an individual's susceptibility to cold sores, vesicular lesions of the lips and mouth caused by another member of the human herpesvirus family, herpes simplex virus type 1 (HSV-1)" "PMID:28928442" - "An estradiol that is estra-1,3,5(10)-triene substituted by hydroxy groups at positions 3 and 17 (the 17alpha stereoisomer)." "PMID:11379378 PMID:24564600 KEGG COMPOUND:57-91-0 LINCS:LSM-36371 PMID:15698550 PMID:10977945 PMID:28877759 ChEMBL:149018 PMID:22581453 Beilstein:2698044 PMID:1920120 KEGG:C02537 Chemspider:61840 CAS:57-91-0 PMID:15947006 HMDB:HMDB0000429 PMID:20451236 MetaCyc:CPD-351 KEGG:D07121 PMID:12234624 Wikipedia:17%CE%B1-Estradiol Gmelin:2190991 PMID:12115026 PMID:19093730 LIPID_MAPS_instance:LMST02010029 NIST Chemistry WebBook:57-91-0 ChemIDplus:57-91-0 PMID:24245565 PMID:1810267 PMID:16042770 PMID:11410806 PMID:10533159 KEGG COMPOUND:C02537 ChemIDplus:2698044 PMID:18644750 PMID:9457484 FooDB:FDB011524 PMID:7925599" + "An estradiol that is estra-1,3,5(10)-triene substituted by hydroxy groups at positions 3 and 17 (the 17alpha stereoisomer)." "PMID:11379378 PMID:24564600 KEGG COMPOUND:57-91-0 LINCS:LSM-36371 PMID:15698550 PMID:10977945 PMID:28877759 ChEMBL:149018 PMID:22581453 Beilstein:2698044 PMID:1920120 KEGG:C02537 Chemspider:61840 CAS:57-91-0 HMDB:HMDB0000429 PMID:15947006 PMID:20451236 MetaCyc:CPD-351 KEGG:D07121 PMID:12234624 Wikipedia:17%CE%B1-Estradiol Gmelin:2190991 PMID:12115026 PMID:19093730 LIPID_MAPS_instance:LMST02010029 NIST Chemistry WebBook:57-91-0 ChemIDplus:57-91-0 PMID:24245565 PMID:1810267 PMID:16042770 PMID:11410806 PMID:10533159 KEGG COMPOUND:C02537 ChemIDplus:2698044 PMID:18644750 PMID:9457484 FooDB:FDB011524 PMID:7925599" "Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." "ICD10:H21.1 UMLS:C1168173 MedDRA:10059200" "Quantification of the expression of IL-6 gene, encoding interleukin-6." "PMID:34025683" "GARD:18444 OMIM:619216 MEDGEN:1786836 DOID:0081426 UMLS:C5543119" @@ -39754,7 +39757,7 @@ "A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood." "NCIT:C131632 UMLS:C0015519 SCTID:76642003 MESH:D005171 NANDO:2200678 MEDGEN:4635" "A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." "UMLS:C1335994 DOID:6880 MEDGEN:234788 NCIT:C5336" "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." "UMLS:C0011603 SNOMEDCT_US:703938007 MP:0004947 UMLS:C3875321" - "Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form." "ZFA:0000279 TAO:0000279 VHOG:0000559 XAO:0000057 AAO:0011086 EMAPA:16752 EMAPA:16189 EFO:0001982" + "Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form." "ZFA:0000279 TAO:0000279 VHOG:0000559 XAO:0000057 EMAPA:16752 AAO:0011086 EMAPA:16189 EFO:0001982" "A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." "NCIT:C5554 Orphanet:424002 GARD:21770 SCTID:766979005 UMLS:C1335690 DOID:5528 MEDGEN:235534" "Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." "MEDGEN:336493 OMIM:271320 MESH:C536989 GARD:3795 Orphanet:2572 SCTID:715465001 UMLS:C1849085" "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." "GARD:17171 DOID:0111502 OMIM:300816 SCTID:722212004 UMLS:C3151753 MEDGEN:463103 Orphanet:238329" @@ -39932,7 +39935,7 @@ "OMIM:619176 GARD:18500 MEDGEN:1766720 UMLS:C5436938" "Quantification of YTH domain-containing protein 1 in a sample." "PMID:29875488" "Quantification of the amount of guanosine in a sample." "PMID:24816252" - "MEDGEN:48263 Orphanet:79224 DOID:653 ICD9:277.2 MedDRA:10037546 MESH:D011686 UMLS:C0034139 GARD:18980" + "Orphanet:79224 MEDGEN:48263 DOID:653 MedDRA:10037546 ICD9:277.2 MESH:D011686 UMLS:C0034139 GARD:18980" "Quantification of chromodomain-helicase-DNA-binding protein 7 in a sample." "PMID:29875488" "The amount of a RNA-binding motif, single-stranded-interacting protein 1 when measured in blood serum." "Congenital ptosis is characterized by superior eyelid drop present at birth." "Orphanet:91411 OMIM:178300 MedDRA:10015996 ICD9:743.61 NCIT:C27049 DOID:0060261 MESH:C566737 HP:0007970 GARD:16798 MEDGEN:357987 UMLS:C1867438 SCTID:268163008" @@ -39941,7 +39944,7 @@ "Quantification of palmitoleoyl-protein carboxylesterase NOTUM in a sample." "PMID:29875488" "Orphanet:79219 MEDGEN:1843271 GARD:18979 UMLS:C5681275" "Concentration of protoporphyrins in erythrocytes above the upper limit of normal." "UMLS:C4023007" - "Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball." "TAO:0001410 BTO:0004687 ZFA:0001410 galen:Orbit FMA:53074 Wikipedia:Orbit_(anatomy) MESH:D009915 NCIT:C12347 GAID:223 UMLS:C0029180 MA:0002482 XAO:0003171" + "Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball." "TAO:0001410 BTO:0004687 ZFA:0001410 FMA:53074 galen:Orbit Wikipedia:Orbit_(anatomy) MESH:D009915 NCIT:C12347 GAID:223 UMLS:C0029180 MA:0002482 XAO:0003171" "OMIM:619177 DOID:0112273 MEDGEN:1780365 UMLS:C5543033" "MEDGEN:1684867 UMLS:C5231400 OMIM:618009 GARD:18514" @@ -40086,7 +40089,7 @@ "A hydrochloride composed of equimolar amounts of cyclazosin and hydrogen chloride." "Reaxys:10227786" "A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor." "NORD:1258 NCIT:C98949 DOID:4626 UMLS:C0020225 HP:0002324 Orphanet:2177 MEDGEN:6937 MESH:D006832 GARD:6681 icd11.foundation:1963574608 SCTID:30023002" "A focal dystonia characterized by predominately cervical dystonia that has material basis in variation in the chromosome region 18p." "UMLS:C1865818 MEDGEN:355560 Orphanet:93963 DOID:0090040 NANDO:1200518 GARD:7782 OMIM:602124 MESH:C566572" - "The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism." "UMLS:C0030518 XAO:0000167 Wikipedia:Parathyroid_gland VHOG:0001188 SCTID:181121007 MESH:D010280 BTO:0000997 EFO:0000862 GAID:452 AAO:0010545 MA:0000128 MIAA:0000082 NCIT:C12765 EV:0100134 FMA:13890 EMAPA:32812 CALOHA:TS-0745 MAT:0000082" + "The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism." "UMLS:C0030518 XAO:0000167 Wikipedia:Parathyroid_gland VHOG:0001188 SCTID:181121007 MESH:D010280 BTO:0000997 EFO:0000862 GAID:452 AAO:0010545 MA:0000128 MIAA:0000082 NCIT:C12765 EV:0100134 FMA:13890 MAT:0000082 EMAPA:32812 CALOHA:TS-0745" "CAROLI was derived from wild mice trapped in Thailand and is from the species Mus caroli, which is distantly related to laboratory mice and does not breed with laboratory mice. These mice are characterized by black feet. This wild derived mouse strain is genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and is a valuable tool for sequence comparison, evolution and systematics research. " "JAX:000926" @@ -40146,7 +40149,7 @@ "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." "MEDGEN:78790 ICD10CM:D56.2 ICD9:282.49 GARD:17165 NCIT:C172823 Orphanet:231237 UMLS:C0271985 SCTID:16360009 DOID:0080773 MESH:C562716 MedDRA:10012236" "OMIM:221995" "A border associated macrophage found at the interface between the blood and the cerebrospinal fluid in the brain. This central nervous system macrophage has a star-like shaped body and expresses scavenger receptors." - "A neoplasm (disease) that involves the parathyroid gland." "UMLS:C0030521 SCTID:127020005 NCIT:C3313 MEDGEN:10586 ICD9:239.7" + "A neoplasm (disease) that involves the parathyroid gland." "UMLS:C0030521 SCTID:127020005 NCIT:C3313 ICD9:239.7 MEDGEN:10586" "Muscle tissue that lacks cross striations, that is made up of elongated spindle-shaped cells having a central nucleus, and that is found in vertebrate visceral structures (as the stomach and bladder) as thin sheets performing functions not subject to conscious control by the mind and in all or most of the musculature of invertebrates other than arthropods." "XAO:0000175 EV:0100378 BTO:0001260 SAEL:97 FBbt:00003525 MAT:0000303" "A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus." "ZFA:0009017 NCIt:C13014 CALOHA:TS-1195 SNOMEDCT:53945006 FMA:83553" "Inward advance of skin over the nail plate." "UMLS:C0406438 SNOMEDCT_US:110987009" @@ -40623,7 +40626,7 @@ "CiteXplore:22313325 CiteXplore:21618303 Wikipedia:U0126 CiteXplore:22301382 CiteXplore:22129618 CiteXplore:22101421 CiteXplore:22396328 PDBeChem:5BM CiteXplore:22025280 ChEMBL:150681 MeSH:C113580 CiteXplore:22286127 Reaxys:3483750 ChemIDplus:109511-58-2 CiteXplore:22354777 CiteXplore:22273495 CiteXplore:22182511 CiteXplore:22052387 CiteXplore:22075021" "Darier's disease is an autosomal dominant disorder discovered by French dermatologist Ferdinand-Jean Darier. Darier's is characterized by dark crusty patches on the skin, sometimes containing pus. The crusty patches are also known as keratotic papules, keratosis follicularis or dyskeratosis follicularis." "DOID:2734 SNOMEDCT:48611009 Wikipedia:Darier%27s_disease OMIM:101900" "DOID:0070053 MEDGEN:816736 OMIM:615761 GARD:17673 UMLS:C3810406 Orphanet:404440" - "Any impairment to the vision." "NCIT:C35126 MEDGEN:12103 MESH:D014786 UMLS:C0042790 SCTID:95677002 MedDRA:10047518" + "Any impairment to the vision." "NCIT:C35126 MEDGEN:12103 MESH:D014786 SCTID:95677002 UMLS:C0042790 MedDRA:10047518" "The amount of a cyclin-dependent kinase 2-associated protein 1 when measured in blood serum." "Symptom complex due to ACTH production by non-pituitary neoplasms." "ICD10:E24.3 MedDRA:10014146 MeSH:D000182 NCIt:C4387" @@ -40736,7 +40739,7 @@ "A traumatic break in one or more of the bones in the foot. [ NCI ]" "NCIt:C28236 MedDRA:10016970" "Quantification of potassium-transporting ATPase subunit beta in a sample." "PMID:29875488" "Formation of stones in the URETER." "NCIT:C114696 NCIt:C114696 MeSH:D053039 MedDRA:10077989 MONDO:0007009 MEDGEN:21775 UMLS:C0041952 ICD9:592.1 MESH:D053039 SNOMEDCT:31054009 SCTID:31054009 ICD10:N21 DOID:14146" - "An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma." "MedDRA:10066435 NCIT:C39291 MONDO:0005187 UMLS:C1512508 NCIt:C39291 MEDGEN:268211" + "An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma." "NCIT:C39291 MedDRA:10066435 MONDO:0005187 UMLS:C1512508 NCIt:C39291 MEDGEN:268211" "A dicarboxylic acid dianion obtained by deprotonation of both carboxy groups of 3-methyladipic acid." "PMID:24023812" "A benign or malignant neoplasm that affects the supraglottic area of the larynx." "SCTID:126697005 UMLS:C0345726 DOID:8002 NCIT:C6793 MEDGEN:87512" "Lissencephaly with an autosomal recessive inheritance pattern." "MedGen:893379" @@ -41157,7 +41160,7 @@ "A IgG4-related disease that involves the eye." "MEDGEN:1800432 Orphanet:449563 GARD:21885 UMLS:C5569009" "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal." "SCTID:26445008 Orphanet:195 UMLS:C0265493 MEDGEN:120543 NORD:899 OMIM:115470 MESH:C535918 DECIPHER:42 NCIT:C75477 GARD:26" - "The conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching." "EHDAA:8199 EHDAA:8171 Wikipedia:Bronchiole MESH:D055745 SCTID:278982001 UMLS:C0006270 FMA:7410 CALOHA:TS-2003 EMAPA:32697 VHOG:0000675 MA:0000422 EHDAA:8183 NCIT:C12684 BTO:0002375 EHDAA:8221" + "The conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching." "EHDAA:8171 EHDAA:8199 Wikipedia:Bronchiole MESH:D055745 SCTID:278982001 UMLS:C0006270 FMA:7410 CALOHA:TS-2003 EMAPA:32697 VHOG:0000675 MA:0000422 EHDAA:8183 NCIT:C12684 BTO:0002375 EHDAA:8221" "Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell." "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." "GARD:10474 MEDGEN:369786 UMLS:C1963674 Orphanet:98761 OMIM:603516 DOID:0050960 SCTID:715754007 MESH:C566874" "The amount of a phosphoglycerate kinase 2 when measured in blood serum." @@ -42333,7 +42336,7 @@ "The amount of a checkpoint protein HUS1 when measured in blood serum." "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential." "UMLS:C0079218 DOID:0080366 Orphanet:873 NCIT:C9182 UMLS:C1851124 OMIM:135290 GARD:1820 MONDO:0007608 ONCOTREE:DES ICDO:8821/1 MEDGEN:38187 UMLS:CN072436 ICD10:D48.1 NORD:1049 GARD:0001820" - "A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy." "MeSH:C565768 MONDO:0013681 UMLS:C3280428 GARD:15787 SCTID:700463002 NCIT:C119677 DOID:0060602 MESH:C565768 MEDGEN:482058 NCIt:C119677 NANDO:1200768 OMIM:614307" + "A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy." "MeSH:C565768 MONDO:0013681 UMLS:C3280428 GARD:15787 SCTID:700463002 NCIT:C119677 MESH:C565768 DOID:0060602 MEDGEN:482058 NCIt:C119677 NANDO:1200768 OMIM:614307" "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene." "energy expenditure is generally considered to be the sum of internal heat produced and external work through physical activity" "SNOMEDCT:251833007" "Quantification of the amount of pregnanolone sulfate in a sample." "PMID:35347128" @@ -43113,7 +43116,7 @@ "NCIt:C86544 MeSH:D009166 SNOMEDCT:58242002" "A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma." "ONCOTREE:UEC NCIT:C6287 MONDO:0006192 EFO:1000233 MEDGEN:234467 UMLS:C1336905" "A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults." "ICDO:9424/3 GARD:10631 Orphanet:251607 MEDGEN:137786 UMLS:C0334586 ONCOTREE:PXA DOID:4852 NCIT:C4323" - "The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified]." "NCIT:C64193 UMLS:C0019552 EHDAA2:0000783 VHOG:0000346 EHDAA:5153 BTO:0001457 EMAPA:17490 MA:0000045 galen:Hip EFO:0001929 SCTID:302543008 EHDAA:6178 FMA:24964 MESH:D006615 CALOHA:TS-2226 Wikipedia:Hip GAID:47" + "The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified]." "NCIT:C64193 UMLS:C0019552 EHDAA2:0000783 VHOG:0000346 EMAPA:17490 EHDAA:5153 BTO:0001457 MA:0000045 galen:Hip EFO:0001929 SCTID:302543008 EHDAA:6178 FMA:24964 MESH:D006615 CALOHA:TS-2226 Wikipedia:Hip GAID:47" "An octadecatetraenoic acid having four double bonds located at positions 6, 9, 12 and 15 (the all-cis-isomer). It has been isolated from Lithospermum officinale and fish oils." "HMDB:HMDB0006547 Beilstein:1712973 Reaxys:1712973 KEGG:C16300 LIPID_MAPS_instance:LMFA01030357 Wikipedia:Stearidonic_acid PMID:23932357 MetaCyc:CPD-12653 KNApSAcK:C00000405 CAS:20290-75-9 Patent:CA2827585 PMID:24553695 Patent:KR20130045846" "The amount of a TraB domain-containing protein when measured in blood serum." @@ -43960,7 +43963,7 @@ "Quantification of the amount of dehydroepiandrosterone (DHEA) in a sample." "PMID:23696881" "Quantification of phosphoglycerides." - "A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc)." "MESH:D005145 UMLS:C0015450 EMAPA:32763 SCTID:302549007 NCIT:C13071 MA:0002473 HAO:0000316 CALOHA:TS-2216 Wikipedia:Face GAID:64 galen:Face BTO:0003369 FMA:24728" + "A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc)." "MESH:D005145 UMLS:C0015450 EMAPA:32763 SCTID:302549007 NCIT:C13071 MA:0002473 HAO:0000316 CALOHA:TS-2216 Wikipedia:Face galen:Face GAID:64 BTO:0003369 FMA:24728" "The amount of a early endosome antigen 1 when measured in blood serum." "SNOMEDCT:440806006" @@ -43997,7 +44000,7 @@ "Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision." "UMLS:C2937228 SNOMEDCT_US:420990001 UMLS:C0241688" "An abnormality of the lens." "UMLS:C0549651 UMLS:C0023308 SNOMEDCT_US:10810001" "An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins." "PMID:9164991 Drug_Central:373 PMID:11481419 PMID:8333586 COMe:MOL000144 PMID:9416479 PMID:12803839 PMID:21871906 PMID:18509457 PMID:12070309 PMID:21248194 PMID:11800048 LINCS:LSM-3994 PMID:10064317 PMID:21356565 PMID:15202718 PMID:18452485 KNApSAcK:C00000756 PMID:11435506 PDBeChem:BTN PMID:8750932 CAS:58-85-5 PMID:17297119 PMID:1814646 PMID:18202531 Wikipedia:Biotin PMCID:PMC8089577 PMID:15899401 PMID:15863846 Reaxys:86838 PMID:16419467 PMID:21373679 PMID:16195795 PMID:15272000 DrugBank:DB00121 FooDB:FDB014510 HMDB:HMDB0000030 Chemspider:149962 PMID:2100006 PMID:19928962 PMID:12055344 PMID:15992684 PMID:19319844 PMID:20974274 PMID:16704206 PMID:15690449 PMID:16769720 PMID:9094878 PMID:9176832 PMID:25515858 PMID:10215065 KEGG:C00120 PMID:9371938 MetaCyc:BIOTIN PMID:19727438 PMID:16676358 PMID:16011464 PMID:16677798 PMID:33461365 PMID:10577274 PMID:34077272 PMID:33346513 PMID:21596550 PMID:20967359 PMID:12603856 KEGG:D00029 PMID:15012185 Gmelin:1918703 PMID:9038855 Beilstein:86838 PMID:19212411 PMID:9022537" - "A squamous cell carcinoma that involves the oropharynx." "NCIT:C8181 MEDGEN:76094 Orphanet:500478 UMLS:C0280313 ONCOTREE:OPHSC GARD:17928 icd11.foundation:839740136" + "A squamous cell carcinoma that involves the oropharynx." "NCIT:C8181 MEDGEN:76094 Orphanet:500478 ONCOTREE:OPHSC GARD:17928 UMLS:C0280313 icd11.foundation:839740136" "OMIM:615767 OMIM:613148 OMIM:612567 ICD10:K52.8" "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)." "SNOMEDCT_US:41841004 UMLS:C0002896" "Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents." "NCIt:C79548 MedDRA:10013830 DOID:3558 MeSH:D004380" @@ -44184,7 +44187,7 @@ "Quantification of the amount of X-12851 in a sample." "PMID:24816252" "Quantification of the amount of Hydantoin-5-propionic acid in a sample." "PMID:35050183" "epidermolysis bullosa not inherited at birth, most commonly presents as an acquired form of mechanobullous disorder. It is a very rare disease in which tense blisters appear at sites of trauma." "ICD10CM:L12.3 NANDO:1200635 UMLS:C0079293 Orphanet:46487 DOID:4313 GARD:6360 MESH:D016107 MONDO:0018747 SCTID:2772003 MEDGEN:37178 icd11.foundation:2034586329 MedDRA:10056508 NCIT:C84690 ICD9:695.19" - "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." "MONDO:0005542 UMLS:C0948089 MeSH:D054058 SNOMEDCT:394659003 MESH:D054058 MEDGEN:215295 NCIt:C53652 SCTID:394659003 NCIT:C53652 MedDRA:10051592" + "Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction." "MONDO:0005542 UMLS:C0948089 MeSH:D054058 SNOMEDCT:394659003 MESH:D054058 MEDGEN:215295 NCIt:C53652 SCTID:394659003 MedDRA:10051592 NCIT:C53652" "The amount of a alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase when measured in blood serum." "Inhaling and exhaling the smoke of tobacco or something similar to tobacco." "NCIt:C20134 MeSH:D012907" "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. [ url:http://en.wikipedia.org/wiki/Measles ]" "MEDGEN:6252 MESH:D008457 NCIT:C96406 UMLS:C0025007 DOID:8622 ICD9:055 ICD10CM:B05 MedDRA:10027011 MONDO:0004619 SCTID:14189004" @@ -44580,7 +44583,7 @@ "Sex reversal in an individual associated with a 9p24.3 deletion." "NCIT:C132270 MESH:C567887 MEDGEN:416704 OMIM:154230 GARD:15083 UMLS:C2752149 DOID:0111771" "A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma." "MONDO:0019496 NCIT:C3809 ICD9:209-209.99 Orphanet:877 MESH:D018358 DOID:169 MEDGEN:64652 ICD9:209 ICD9:239.7 MeSH:D018358 UMLS:C0206754 GARD:9316 SCTID:255046005" "The chemical reactions and pathways involving any ribonucleoside, a nucleoside in which purine base is linked to a ribose (beta-D-ribofuranose) molecule." - "The tertiary bronchi (also known as the segmental bronchi) arise from the secondary bronchi. The respiratory epithelium lining their lumen is surrounded by a layer of smooth muscle. This layer is composed of two ribbons of smooth muscle that spiral in opposite directions. The smooth muscle layer is surrounded by irregular plates of hyaline cartilage which help maintain the patency of the airway. Each of the tertiary bronchi serves a specific bronchopulmonary segment. There are 10 tertiary bronchi in the right lung, and eight in the left. The tertiary bronchi get smaller and divide into primary bronchioles. [WP,unvetted]." "NCIT:C33526 MA:0000439 EMAPA:37739 Wikipedia:Segmental_bronchus UMLS:C0444439 VHOG:0001446 FMA:7407 EHDAA:7064 EHDAA:7043 EHDAA:7058 SCTID:245513001 EHDAA:7049 EHDAA:7070" + "The tertiary bronchi (also known as the segmental bronchi) arise from the secondary bronchi. The respiratory epithelium lining their lumen is surrounded by a layer of smooth muscle. This layer is composed of two ribbons of smooth muscle that spiral in opposite directions. The smooth muscle layer is surrounded by irregular plates of hyaline cartilage which help maintain the patency of the airway. Each of the tertiary bronchi serves a specific bronchopulmonary segment. There are 10 tertiary bronchi in the right lung, and eight in the left. The tertiary bronchi get smaller and divide into primary bronchioles. [WP,unvetted]." "NCIT:C33526 MA:0000439 EMAPA:37739 Wikipedia:Segmental_bronchus VHOG:0001446 UMLS:C0444439 FMA:7407 EHDAA:7064 EHDAA:7043 EHDAA:7058 SCTID:245513001 EHDAA:7049 EHDAA:7070" "Non-transformed BJ cells expressing hTERT and SV40 early region." "An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported." "MEDGEN:1806624 DOID:0081142 UMLS:C5676900 OMIM:619707" "A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative." "UMLS:C4551515 Orphanet:90280 MedDRA:10025141 MEDGEN:1632142 GARD:19130 DOID:0060386" @@ -45001,7 +45004,7 @@ "The amount of a sentrin-specific protease 8 when measured in blood serum." - "The section of the pharynx that lies above the soft palate." "Wikipedia:Nasopharynx NCIT:C12423 EMAPA:17670 MAT:0000447 MA:0000443 EHDAA:7086 EV:0100066 VHOG:0000375 EHDAA2:0001239 CALOHA:TS-0663 BTO:0000662 GAID:339 SCTID:181200003 UMLS:C0027442 MESH:D009305 FMA:54878" + "The section of the pharynx that lies above the soft palate." "Wikipedia:Nasopharynx NCIT:C12423 EMAPA:17670 MAT:0000447 MA:0000443 EHDAA:7086 EV:0100066 VHOG:0000375 EHDAA2:0001239 CALOHA:TS-0663 SCTID:181200003 BTO:0000662 GAID:339 UMLS:C0027442 MESH:D009305 FMA:54878" "Panc 08.13 is a pancreatic adenocarcinoma epithelial cell line derived in 1995 from a primary tumor removed from the head-of-the-pancreas of a male with pancreatic adenocarcinoma. (ATCC catalog number CRL-2551)" "Reduced distance from the anterior border of the naris to the subnasale." "UMLS:C1857479 UMLS:C4280585" "Quantification of lysozyme-like protein 2 in a sample." "PMID:29875488" @@ -45209,7 +45212,7 @@ "Any member of a family of organelles found in the cytoplasm of plants and some protists, which are membrane-bounded and contain DNA. Plant plastids develop from a common type, the proplastid." "Wikipedia:Plastid SNOMEDCT:68008002" "The amount of a annexin A3 when measured in blood serum." "Quantification of the amount of Indole-5-carboxylic acid in a sample." "PMID:33634981" - "Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." "NCIt:C38003 DOID:864 SNOMEDCT:61599003 NCIT:C38003 MESH:D010689 UMLS:C0031542 MedDRA:10034879 MONDO:0004625 MEDGEN:18425 ICD10:I80 MeSH:D010689 SCTID:61599003" + "Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)." "DOID:864 SNOMEDCT:61599003 NCIT:C38003 MESH:D010689 UMLS:C0031542 MedDRA:10034879 MONDO:0004625 MEDGEN:18425 ICD10:I80 MeSH:D010689 SCTID:61599003 NCIt:C38003" "CXXC affinity purification plus deep sequencing (CAP-seq)" "PMID:20885785" "The amount of a short/branched chain specific acyl-CoA dehydrogenase, mitochondrial when measured in blood serum." "OMIMPS:256550" @@ -45827,7 +45830,7 @@ "A medulloblastoma occurring in children." "GARD:9350 MEDGEN:75829 NCIT:C3997 UMLS:C0278510 NANDO:2200090 DOID:3869" "A progressive resorption of bone caused by a host inflammatory response to particulate wear debris produced by friction between articulating surfaces in a total joint replacement." "MedDRA:10052306" "A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation." "MEDGEN:5711 ICD9:253.4 SCTID:48130008 DOID:1924 NCIT:C9227 MESH:D007006 UMLS:C0020619" - "Proliferative region that is part of the ventricular system." "VHOG:0001224 PBA:294022030 MA:0000819 TAO:0001083 DHBA:10542 ZFA:0001083 AAO:0011112 XAO:0000021 BTO:0003654 EMAPA:32679 EFO:0003624" + "Proliferative region that is part of the ventricular system." "EFO:0003624 VHOG:0001224 PBA:294022030 MA:0000819 TAO:0001083 DHBA:10542 ZFA:0001083 AAO:0011112 XAO:0000021 BTO:0003654 EMAPA:32679" "A skin disease marked by scaly or thickened patches on the skin, and often caused by prolonged exposure to arsenic. The patches often occur on sunexposed areas of the skin and in older white men. These patches may become malignant (cancerous)." "NCIt:C8957" "An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait." "UMLS:C1843570" "Any process that modulates the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury." @@ -46338,7 +46341,7 @@ "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." "SCTID:702378002 Orphanet:99880 OMIM:145001 MEDGEN:310065 NCIT:C48287 GARD:10829 UMLS:C1704981" "ZFA:0000633" "Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)" "NCIt:C3134 MedDRA:10014984" - "Myopathy caused by mitochondrial abnormalities." "MEDGEN:56484 UMLS:C0162670 GARD:20371 icd11.foundation:601991549 Orphanet:206966 NCIT:C101328 DOID:699 MESH:D017240 MedDRA:10027710" + "Myopathy caused by mitochondrial abnormalities." "MEDGEN:56484 UMLS:C0162670 GARD:20371 icd11.foundation:601991549 NCIT:C101328 Orphanet:206966 DOID:699 MESH:D017240 MedDRA:10027710" "Quantification of the volume of the caudal anterior cingulate cortex." "PMID:31530798" "Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme." "UMLS:C5679583 NCIT:C27753 MEDGEN:1842303 Orphanet:167714 GARD:12760" "An abnormal mass of tissue that results from excessive cell division. Tumors perform no useful body function. They may be benign (not cancerous) or malignant (cancerous)." @@ -46798,7 +46801,7 @@ "Quantification of group XIIB secretory phospholipase A2-like protein in a sample." "PMID:29875488" - "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis)." "MeSH:D020144 UMLS:C0751739 MEDGEN:148381 DOID:10991 MONDO:0006505 MESH:D020144" + "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis)." "MeSH:D020144 UMLS:C0751739 MEDGEN:148381 MONDO:0006505 DOID:10991 MESH:D020144" "The inferior portion of the trunk of the body, bounded anteriorly and laterally by the two hip bones and posteriorly by the sacrum and coccyx. The pelvis is divided by a plane passing through the terminal lines into the pelvis major superiorly and the pelvis minor inferiorly." "BTO:0001006" "UMLS:C4225190 OMIM:616829 DOID:0070268 GARD:17825 Orphanet:466703 MEDGEN:895025" @@ -47183,7 +47186,7 @@ "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." "MEDGEN:331297 DOID:0110543 OMIM:601317 GARD:18104 MESH:C563353 UMLS:C1832475" "A lysophosphatidylcholine 18:1 in which the acyl group is specified as oleoyl and is located at position 2." "Reaxys:9025730 HMDB:HMDB0061701 LIPID_MAPS_instance:LMGP01050082" - "Section of colon which is distal to the cecum and proximal to the transversecolon.[FMA,modified]." "MESH:D044682 FMA:14545 galen:AscendingColon CALOHA:TS-0057 EMAPA:35151 MA:0001541 EFO:0000843 MAT:0000311 MIAA:0000311 SCTID:362162009 Wikipedia:Ascending_colon BTO:0000270 NCIT:C12265 UMLS:C0227375" + "Section of colon which is distal to the cecum and proximal to the transversecolon.[FMA,modified]." "MESH:D044682 FMA:14545 galen:AscendingColon EMAPA:35151 CALOHA:TS-0057 MA:0001541 EFO:0000843 MAT:0000311 MIAA:0000311 SCTID:362162009 Wikipedia:Ascending_colon BTO:0000270 NCIT:C12265 UMLS:C0227375" "An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1)." "MedDRA:10026667 ONCOTREE:MPNST NCIt:C3798 MONDO:0017827 ICDO:9540/3 MeSH:D018317 icd11.foundation:71413945 DOID:5940 MEDGEN:155614 MedDRA:10029236 GARD:10872 SNOMEDCT:19897006 ICD9:171.9 MeSH:D018319 SNOMEDCT:404037002 NCIT:C3798 NANDO:2200102 ICDO:9560/3 UMLS:C0751690 Orphanet:3148 SCTID:404037002" "Quantification of tropomodulin-1 in a sample." "PMID:29875488" @@ -47484,7 +47487,7 @@ "The amount of a TOM1-like protein 2 when measured in blood serum." "CAS:41205-06-5 KEGG:C14308 MeSH:D008726 NCIt:C50378 Beilstein:1913191 VSDB:1457 PPDB:1457 KEGG:D08200 CAS:40596-69-8" "A disease that has its basis in the disruption of intestinal motility." "MEDGEN:586448 UMLS:C0400865" - "A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]." "EV:0100161 NCIT:C33519 Wikipedia:Sebaceous_gland BTO:0001980 CALOHA:TS-2384 VHOG:0001468 UMLS:C0036505 MESH:D012627 MA:0002565 GAID:900 FMA:59160 EMAPA:35754 SCTID:361697005" + "A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]." "EV:0100161 NCIT:C33519 Wikipedia:Sebaceous_gland BTO:0001980 CALOHA:TS-2384 VHOG:0001468 UMLS:C0036505 MESH:D012627 MA:0002565 GAID:900 FMA:59160 SCTID:361697005 EMAPA:35754" "The rostral extensions of the ventricular system of the brain consisting of two cavities, one on each side of the brain within the central regions of each cerebral hemisphere. Cerebrospinal fluid flows from the lateral ventricles into the centrally third ventricle via the foramen of Monroe." "MeSH:D020547 NIFSTD:birnlex_1263 BTO:0000879 NCIt:C12834" "A neuroepithelial cells that occurs singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid. Expresses a form of the neural cell adhesion molecule (N-CAM) on their surface. Secretes calcitonin, 5-hydroxytryptamine and dopamine." "SCTID:176770005 ZFA:0009260 FMA:68653" "Gonochoristic organism that can produce female gametes." "TAO:0000303 CARO:0000028 AAO:0010030 BILA:0000028 XAO:0003005 TGMA:0001839 SCTID:362608006 HAO:0000028 FBbt:00007011 FMA:67812 ZFA:0000303" @@ -49021,7 +49024,7 @@ "MEDGEN:301437 UMLS:C1619700 OMIM:191830" "TAO:0001334 AAO:0000472 ZFA:0001334 EFO:0003462" "SNOMEDCT:243242006" - "A primary or metastatic malignant neoplasm involving the bladder." "UMLS:C0005684 ICD9:188.9 ICD9:188.8 DOID:11054 NCIT:C9334 MEDGEN:14150 Orphanet:157980 OMIM:109800 SCTID:399326009 ICD9:188" + "A primary or metastatic malignant neoplasm involving the bladder." "ICD9:188.9 ICD9:188.8 DOID:11054 NCIT:C9334 MEDGEN:14150 Orphanet:157980 OMIM:109800 SCTID:399326009 ICD9:188 UMLS:C0005684" "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." "NCIT:C3267 GARD:0007892 MESH:D009396 EFO:1000056 MedDRA:10047985 UMLS:CN244940 MedDRA:10047987" "Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)" "NCIT:C131502" @@ -49346,7 +49349,7 @@ "Increased volume and globular shape of the anteroinferior aspect of the nose." "UMLS:C1834118 UMLS:C1855751 UMLS:C0240543" "An L-alpha-amino acid that is the L-isomer of arginine." "PMID:22439203 MetaCyc:ARG CAS:74-79-3 PMID:12812828 PMID:16416365 PMID:8070089 PMID:22428068 Reaxys:1725413 PMID:22251130 PMID:15016745 Gmelin:83283 HMDB:HMDB0000517 PMID:22619480 DrugBank:DB00125 KEGG:C00062 PMID:22667467 PMID:22425811 KEGG:D02982 PMID:17168727 PMID:11898853 PMID:22179117 ChemIDplus:74-79-3 PMID:22361732 PMID:11139824 Drug_Central:1549 PMID:22626826 Wikipedia:L-arginine PMID:22652429 PMID:22553931 KNApSAcK:C00001340 KEGG COMPOUND:C00062 Beilstein:1725413 PMID:15465805 PMID:19030957 PMID:17439666 PDBeChem:ARG PMID:22243793 ECMDB:ECMDB00517 PMID:11300497 PMID:21600268 PMID:22709481 PMID:21814794 PDBeChem:GND PMID:10848923 PMID:16056256 YMDB:YMDB00592" "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene." "GARD:18559 OMIM:614485 UMLS:C3280974 MEDGEN:482604" - "Posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine." "FMA:11946 NCIT:C32138 EFO:0003618 SCTID:317373001 Wikipedia:Vertebral_arch ZFA:0001066 AAO:0000725 TAO:0001066 UMLS:C0223076 VHOG:0001670 MA:0001453" + "Posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine." "MA:0001453 FMA:11946 NCIT:C32138 EFO:0003618 SCTID:317373001 Wikipedia:Vertebral_arch ZFA:0001066 AAO:0000725 TAO:0001066 UMLS:C0223076 VHOG:0001670" "quantification of the amount of beta-nerve growth factor in a sample" "An organization is a continuant entity which can play roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members." "SNOMEDCT:21139007 NCIt:C92453 MO:177" @@ -49375,7 +49378,7 @@ "Quantification of 1-amino-24-dibromoanthraquinone in blood plasma." "KEGG COMPOUND:C19211" "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." "NANDO:2201206 Orphanet:77292 NANDO:1200061 UMLS:C0268242 GARD:7206 SCTID:52165006 NCIT:C126561 DOID:0070111 MEDGEN:78650 OMIM:257200 MESH:D052536" - "A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere." "GAID:611 VHOG:0000643 HBA:9419 BIRNLEX:1263 SCTID:180930008 EHDAA:3502 DHBA:10596 Wikipedia:Lateral_ventricle CALOHA:TS-1230 BTO:0000879 EFO:0001961 BAMS:LV FMA:78448 NCIT:C12834 EHDAA2:0001984 ZFA:0000696 BM:Tel-LV BAMS:Tel-V MBA:81 UMLS:C0152279 DMBA:126651562 EHDAA:6576 EV:0100307 MA:0000192 TAO:0000696 MESH:D020547 neuronames:209" + "A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere." "GAID:611 HBA:9419 VHOG:0000643 BIRNLEX:1263 SCTID:180930008 EHDAA:3502 DHBA:10596 Wikipedia:Lateral_ventricle CALOHA:TS-1230 BTO:0000879 EFO:0001961 BAMS:LV FMA:78448 NCIT:C12834 EHDAA2:0001984 BM:Tel-LV ZFA:0000696 BAMS:Tel-V MBA:81 UMLS:C0152279 DMBA:126651562 EHDAA:6576 EV:0100307 MA:0000192 TAO:0000696 MESH:D020547 neuronames:209" "The amount of a receptor-type tyrosine-protein phosphatase H when measured in blood serum." "A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva." "MedDRA:10015108 UMLS:C0149678 MESH:D020031 NCIt:C38759 MeSH:D020031 MEDGEN:57439 NCIT:C38759 DOID:2938 MONDO:0005111" "Any measurable or observable characteristic related to the size of the tragus, a small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the meatus" @@ -49549,7 +49552,7 @@ "A quinolone that is quinolin-4(1H)-one bearing cyclopropyl, carboxylic acid, fluoro and piperazin-1-yl substituents at positions 1, 3, 6 and 7, respectively." "VSDB:1763 MeSH:D002939 CAS:85721-33-1 Beilstein:3568352 PMID:10397494 PDBeChem:CPF PMID:10737746 DrugBank:DB00537 SNOMEDCT:7577004 LINCS:LSM-5226 Drug_Central:659 SNOMEDCT:372840008 HMDB:HMDB0014677 KEGG:C05349 Wikipedia:Ciprofloxacin Reaxys:3568352 NCIt:C375 Patent:DE3142854 KEGG:D00186 Patent:US4670444" "A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" "DOID:14221 OMIM:605552 MeSH:D024821 MedDRA:10052066 ICD9:277.7 SNOMEDCT:237602007 NCIt:C84442 OMIM:615812" "Mature interstitial dendritic cell is a interstitial dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive." - "Vein that is central to a lobule in the liver." "ZFA:0005168 SCTID:272023004 NCIT:C32281 FMA:17544 Wikipedia:Central_veins_of_liver TAO:0005168" + "Vein that is central to a lobule in the liver." "ZFA:0005168 NCIT:C32281 FMA:17544 SCTID:272023004 Wikipedia:Central_veins_of_liver TAO:0005168" "short or long term physiological response of an organism, eg in terms of deposits of dust particles in lung tissues, to exposure to biological dust, usually of occupational or environment origin" "binge eating with or without purging" "SCTID:439960005 MONDO:0005582 NCIt:C97162 MedDRA:10004716 MEDGEN:154543 MESH:D002032 NCIT:C97162 UMLS:C0596170" "A cell involved in the formation of a granulocyte." "FMA:83519" @@ -50212,7 +50215,7 @@ "The amount of a mucosa-associated lymphoid tissue lymphoma translocation protein 1 when measured in blood serum." "UMLS:C5231404 MEDGEN:1684774 OMIM:618547" - "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative." "ICD9:709.8 MONDO:0006787 UMLS:C0206672 DOID:3893 EFO:1000967 MESH:D018251 NCIT:C3760 MEDGEN:61656 MedDRA:10059019 SCTID:254725004 ICDO:8404/0" + "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative." "ICD9:709.8 MONDO:0006787 UMLS:C0206672 DOID:3893 EFO:1000967 NCIT:C3760 MESH:D018251 MEDGEN:61656 MedDRA:10059019 SCTID:254725004 ICDO:8404/0" "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated." "icd11.foundation:20223105 Orphanet:98942 MEDGEN:1643994 UMLS:C4708599 GARD:16875 SCTID:39302008" "A measurement of the number of children born" "Epithelial tube with excretory and osmoregulatory roles connected, via a ureter, to the alimentary canal at the junction of the hindgut and midgut. There are two pairs of Malpighian tubules, the right pair lie at the anterior end of the abdomen, and the left pair at the posterior. Each tubule unites with its partner to form a common ureter which enters the alimentary canal at the junction of the hindgut and midgut (Wessing and Eichelberg, 1978)." "MAT:0000123 BTO:0000810 TGMA:0001038 FBbt:00005786 TADS:0000163 FBbt:00005725" @@ -50416,7 +50419,7 @@ "UMLS:C1845245" "quantification of some aspect of the deposition of amyloid proteins in an organ" - "A disorder involving the attachment of a tendon or ligament to a bone" "ICD10:M76 MEDGEN:66909 MONDO:0002183 ICD9:726.90 ICD10:M77 MedDRA:10014910 MESH:D012216 MESH:D000070676 UMLS:C0242490 DOID:204 ICD9:726.9 SCTID:23680005" + "A disorder involving the attachment of a tendon or ligament to a bone" "MEDGEN:66909 ICD10:M76 MONDO:0002183 ICD9:726.90 ICD10:M77 MedDRA:10014910 MESH:D012216 MESH:D000070676 UMLS:C0242490 DOID:204 ICD9:726.9 SCTID:23680005" "OMIM:103470" "Quantification of the amount of O-methylcatechol sulfate in a sample." "PMID:35050183" @@ -50451,7 +50454,7 @@ "Quantification of zinc finger protein 334 in a sample." "PMID:29875488" "UMLS:C0265210 MeSH:C536687 ICD10:Q87.3 MedDRA:10083271 OMIM:277590" - "A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]." "galen:Vagina MAT:0000128 MESH:D014621 FMA:19949 CALOHA:TS-1103 GAID:381 MA:0000394 VHOG:0001138 EMAPA:18986 EFO:0000976 EV:0100117 MIAA:0000128 NCIT:C12407 SCTID:181441005 UMLS:C0042232 Wikipedia:Vagina BTO:0000243" + "A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]." "galen:Vagina MAT:0000128 MESH:D014621 FMA:19949 CALOHA:TS-1103 GAID:381 MA:0000394 VHOG:0001138 EFO:0000976 EMAPA:18986 EV:0100117 MIAA:0000128 NCIT:C12407 SCTID:181441005 UMLS:C0042232 Wikipedia:Vagina BTO:0000243" "An oxopurine that is the final oxidation product of purine metabolism." "SNOMEDCT:1710001 NCIt:C62652 MeSH:D014527 ChemIDplus:69-93-2 Wikipedia:Uric_acid HMDB:HMDB0000289" "Orphanet:647667 OMIM:619127 MEDGEN:1741713 UMLS:C5436867" "An assay with input RNA" @@ -50504,7 +50507,7 @@ "A disease involving the spleen." "MeSH:D013158 ICD9:289.50 MONDO:0002332 ICD10:D73 DOID:2529 MEDGEN:21291 ICD10CM:D73 SCTID:51244008 MESH:D013158 UMLS:C0037997 NCIT:C35823" "A quality inhering in a bearer by virtue of the bearer's deviation from normal or average." "NCIt:C25401 SNOMEDCT:263654008" - "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." "EFO:1000266 DOID:7133 NCIT:C6763 MEDGEN:232229 UMLS:C1333759 MONDO:0006219" + "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells." "DOID:7133 NCIT:C6763 MEDGEN:232229 UMLS:C1333759 MONDO:0006219 EFO:1000266" "A malignant neoplasm involving the respiratory system" "ICD9:165.9 SCTID:449096009 MEDGEN:756863 ICD9:165.8 DOID:0050615 UMLS:C3164456" "The amount of a autophagy protein 5 when measured in blood serum." @@ -51192,11 +51195,11 @@ "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a venlafaxine stimulus" "NORD:146101 UMLS:C4479319 GARD:16225 DOID:0080418 MEDGEN:1392637 OMIM:617391" - "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications." "UMLS:C0008049 MONDO:0005700 SCTID:38907003 MEDGEN:2995 MeSH:D002644 MedDRA:10008505 ICD9:052.9 MESH:D002644 NCIT:C97132 ICD10:B01 DOID:8659 ICD9:052" + "A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications." "UMLS:C0008049 MONDO:0005700 SCTID:38907003 MEDGEN:2995 MeSH:D002644 ICD9:052.9 MESH:D002644 MedDRA:10008505 NCIT:C97132 ICD10:B01 DOID:8659 ICD9:052" "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." "NANDO:2100204 SCTID:234532001 MEDGEN:7034 UMLS:C0021051 ICD9:279.3 NCIT:C3131 OMIMPS:300755" "MEDGEN:1750805 OMIM:619121 UMLS:C5436848 DOID:0070543" "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus." "MEDGEN:813072 OMIM:300915 DOID:0111811 GARD:17709 Orphanet:431140 UMLS:C3806742" - "A disease that involves the superficial vasculature." "Orphanet:79379 MESH:D017445 DOID:9540 MEDGEN:102473 UMLS:C0162819 NCIT:C35254 SCTID:11263005 ICD9:709.1 MedDRA:10062171" + "A disease that involves the superficial vasculature." "MESH:D017445 DOID:9540 MEDGEN:102473 UMLS:C0162819 NCIT:C35254 SCTID:11263005 ICD9:709.1 MedDRA:10062171 Orphanet:79379" "A volume unit which is equal to one tenth of a liter or 10^[-1] L." "MO:624 SNOMEDCT:258771000 NCIt:C64697" "Quantification of 2-hydroxyisobutyrate in a sample." "PMID:33283231" @@ -51239,7 +51242,7 @@ "Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." "DOID:0112000 OMIM:300645 NANDO:2201279 MESH:C567068 UMLS:C1970859 MEDGEN:370369 Orphanet:319623" "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." "OMIM:600101 DOID:0110558 MEDGEN:436997 MESH:C567441 UMLS:C2677637 GARD:18099" "A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." "ICD9:459.10 MEDGEN:46043 DOID:2364 UMLS:C0032807 SCTID:20427003 ICD9:459.13 MESH:D011186 ICD10CM:I87.0 MeSH:D054070 MONDO:0005928 ICD9:459.11 ICD9:459.1 ICD9:459.12" - "An inflammatory process affecting the pericardium." "MEDGEN:18377 ICD10:I31 UMLS:C0031046 MONDO:0005904 ICD10:I30 DOID:1787 SCTID:3238004 NCIT:C34915 Orphanet:58208 MESH:D010493 MedDRA:10034484 HP:0001701 MeSH:D010493" + "An inflammatory process affecting the pericardium." "MEDGEN:18377 ICD10:I31 UMLS:C0031046 ICD10:I30 DOID:1787 MONDO:0005904 SCTID:3238004 NCIT:C34915 Orphanet:58208 MESH:D010493 MedDRA:10034484 HP:0001701 MeSH:D010493" "Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood." "OMIM:600457 Orphanet:3387 SCTID:717963001 MEDGEN:325346 GARD:8438 UMLS:C1838123 MESH:C538390" "OMIM:600461 ICD10:D58.8" @@ -51311,7 +51314,7 @@ "Quantification of tubulin-specific chaperone A in a sample." "PMID:29875488" "Bologna is an Arabidopsis ecotype." "Quantification of the amount of 1-stearoyl-2-docosahexaenoyl-GPE (18:0/22:6) in a sample." "PMID:35347128" - "A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." "MeSH:D046728 DOID:60182 Orphanet:58220 MedDRA:10056979 UMLS:C0400821 SCTID:235753003 SNOMEDCT:235753003 MONDO:0000702 NCIT:C38504 DOID:0060182 NCIt:C38504 MEDGEN:98005 ICD9:558.9 ORDO:Orphanet_58220 MESH:D046728" + "A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology." "MeSH:D046728 DOID:60182 Orphanet:58220 MedDRA:10056979 UMLS:C0400821 SNOMEDCT:235753003 SCTID:235753003 MONDO:0000702 NCIT:C38504 DOID:0060182 NCIt:C38504 MEDGEN:98005 ICD9:558.9 ORDO:Orphanet_58220 MESH:D046728" "Quantification of the amount of X-10810 in a sample." "PMID:24816252" "Quantification of some aspect of thigh muscle volume." "Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells)." "DOID:8541 ICD9:202.2 EFO:1000785 Orphanet:3162 GARD:7629 MEDGEN:19959 NCIT:C3366 MedDRA:10040500 GARD:0007629 MedDRA:10040493 ICD10:C84.1 UMLS:C0036920 SCTID:118611004 NORD:1707 MONDO:0017844 ICDO:9701/3 icd11.foundation:1358020385 ONCOTREE:SS MESH:D012751 ICD10:C84.10" @@ -51872,7 +51875,7 @@ "GARD:18015 UMLS:C4693824 OMIM:617982 MEDGEN:1647785 Orphanet:580940" "An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process." "SNOMEDCT:80142000 MeSH:D061270" - "DrugBank:DB00197 Drug_Central:2767 Patent:US4572912 MetaCyc:CPD-11439 Beilstein:4338399 SNOMEDCT:109085002 NCIt:C1522 SNOMEDCT:386967007 LINCS:LSM-4890 Wikipedia:Troglitazone MeSH:C057693 CAS:97322-87-7 KEGG:D00395" + "DrugBank:DB00197 Drug_Central:2767 MetaCyc:CPD-11439 Patent:US4572912 Beilstein:4338399 SNOMEDCT:109085002 NCIt:C1522 SNOMEDCT:386967007 LINCS:LSM-4890 Wikipedia:Troglitazone MeSH:C057693 CAS:97322-87-7 KEGG:D00395" "The amount of a leucine-rich repeat-containing protein 15 when measured in blood serum." "Quantification of dual specificity protein phosphatase 13 isoform A in a sample." "PMID:29875488" "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene." "MEDGEN:864033 OMIM:616227 DOID:0110658 GARD:18453 UMLS:C4015596" @@ -52381,7 +52384,7 @@ "Quantification of the amount of 3-hydroxyhexanoate in a sample." "PMID:35347128" "Any member of the group of 1,3-thiazolium cations that exhibit biological activity against vitamin B1 deficiency in animals. Symptoms of vitamin B1 deficiency include constipation, loss of apetite, fatigue, nausea, delirium, blurry vision and muscle weakness. Severe vitamin B1 deficiency can also lead to a disease known as beriberi. Vitamin B1 consists of the vitamer thiamin and its acid, aldehyde and phosphorylated derivatives (and their corresponding ionized, salt and hydrate forms)." "PMID:32554808 PMID:28859374" "A lysophosphatidylethanolamine in which the acyl group has a fully saturated C18 chain and is attached to the glycero moiety at either position 1 or 2." "PMID:19347970" - "Inflammation of a vein." "NCIt:C38003 DOID:864 SNOMEDCT:61599003 NCIT:C38003 MESH:D010689 UMLS:C0031542 MedDRA:10034879 MONDO:0004625 MEDGEN:18425 ICD10:I80 MeSH:D010689 SCTID:61599003" + "Inflammation of a vein." "DOID:864 SNOMEDCT:61599003 NCIT:C38003 MESH:D010689 UMLS:C0031542 MedDRA:10034879 MONDO:0004625 MEDGEN:18425 ICD10:I80 MeSH:D010689 SCTID:61599003 NCIt:C38003" "The amount of a leucine-rich repeat-containing protein 3 when measured in blood serum." "CS57750 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158774&type=germplasm" "The amount of a smad1 when measured in blood serum." @@ -52750,7 +52753,7 @@ "OMIM:213010" "Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition" "MedDRA:10022437 UMLS:C0917801 MESH:D007319 ICD10WHO:G47.0 MEDGEN:214589 NCIT:C28286 SCTID:193462001 NCIt:C28286 HP:0100785 ICD9:780.52 MONDO:0013600 ICD10CM:G47.0 SNOMEDCT:193462001 OMIM:614163" - "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. [ NCIt:P378 ]" "UMLS:C0024437 NCIT:C123330 DOID:4448 MONDO:0003004 MedDRA:10025409 MESH:D008268 MEDGEN:7434 SCTID:422338006" + "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. [ NCIt:P378 ]" "UMLS:C0024437 NCIT:C123330 DOID:4448 MONDO:0003004 MESH:D008268 MEDGEN:7434 MedDRA:10025409 SCTID:422338006" "The amount of a BRISC complex subunit Abraxas 2 when measured in blood serum." "HUMAN VARIATION PANEL - HAN PEOPLE OF LOS ANGELES PANEL OF 100" @@ -53528,7 +53531,7 @@ "Orphanet:251633" "Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinson’s disease, schizophrenia, and ADH." - "A carbohydrate-containing antibiotic that is the semisynthetic derivative of lincomycin, a natural antibiotic." "KEGG:D00277 PMID:24310902 KEGG:C06914 KEGG:C13684 HMDB:HMDB0015321 Reaxys:5624049 PMID:11691576 NCIt:C377 KEGG:D02132 MeSH:D002981 Wikipedia:Clindamycin SNOMEDCT:372786004 PMID:18695329 CAS:18323-44-9 SNOMEDCT:58883005 DrugBank:DB01190" + "A carbohydrate-containing antibiotic that is the semisynthetic derivative of lincomycin, a natural antibiotic." "KEGG:D00277 PMID:24310902 KEGG:C06914 KEGG:C13684 HMDB:HMDB0015321 Reaxys:5624049 PMID:11691576 NCIt:C377 KEGG:D02132 MeSH:D002981 SNOMEDCT:372786004 Wikipedia:Clindamycin PMID:18695329 CAS:18323-44-9 SNOMEDCT:58883005 DrugBank:DB01190" "Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." "DOID:0111272 OMIM:304150 UMLS:C0268353 GARD:4017 NANDO:2200581 Orphanet:198 SCTID:59399004 MEDGEN:82793 MESH:C537860 NANDO:1200654" "UMLS:C3806301" "ICD10:Q56.1" @@ -53546,7 +53549,7 @@ "Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset." "UMLS:C3890205 NCIt:C119033 MONDO:0019432 GARD:3931 Orphanet:85408 MEDGEN:855549" "The result of a measurement of circulating antibodies specific to a ruminococcaceae antigen." "PMID:37164013" - "A pyridazinone that is pyridazin-3(2H)-one which is substituted at positions 2, 4, and 5 by m-(trifluoromethyl)phenyl, chloro, and methylamino groups, respectively. A pre-emergence herbicide used to control grasses and broad-leafed weeds in a variety of crops. Not approved for use within the European Union." "CAS:27314-13-2 Patent:BE712832 PPDB:486 Pesticides:norflurazon Beilstein:757115 KEGG:C18874 PMID:24936791 PDBeChem:NRF PMID:16659463 PMID:26735720 Patent:US3644355" + "A pyridazinone that is pyridazin-3(2H)-one which is substituted at positions 2, 4, and 5 by m-(trifluoromethyl)phenyl, chloro, and methylamino groups, respectively. A pre-emergence herbicide used to control grasses and broad-leafed weeds in a variety of crops. Not approved for use within the European Union." "Patent:US3644355 CAS:27314-13-2 Patent:BE712832 PPDB:486 Pesticides:norflurazon Beilstein:757115 KEGG:C18874 PMID:24936791 PDBeChem:NRF PMID:16659463 PMID:26735720" "The amount of a iron-sulfur cluster assembly enzyme ISCU when measured in blood serum." "The amount of a phosphomevalonate kinase when measured in blood serum." @@ -54541,7 +54544,7 @@ "Quantification of disintegrin and metalloproteinase domain-containing protein 11 in a sample." "PMID:29875488" "OMIM:262700" "Quantification of an individual's susceptibility to infactions of the urinary tract, typically caused by Escherichia coli, Staphylococcus saprophyticus, or other fecal flora." "PMID:28928442" - "The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong]." "EFO:0002554 VHOG:0000421 NCIT:C12257 EMAPA:17886 GAID:320 EHDAA2:0001919 SCTID:362139007 MESH:D005748 Wikipedia:Fundus_(stomach) EHDAA:4844 MA:0001612 BTO:0000502 FMA:14559 galen:GastricFundus UMLS:C0017129" + "The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong]." "EFO:0002554 VHOG:0000421 NCIT:C12257 EMAPA:17886 GAID:320 EHDAA2:0001919 SCTID:362139007 Wikipedia:Fundus_(stomach) MESH:D005748 EHDAA:4844 MA:0001612 BTO:0000502 FMA:14559 galen:GastricFundus UMLS:C0017129" "MEDGEN:462056 GARD:12640 UMLS:C3150706 OMIM:613456 DOID:0081047 Orphanet:306542" @@ -54756,7 +54759,7 @@ "Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms." "OMIM:616231 Orphanet:88635 MEDGEN:864061 SCTID:724095006 UMLS:C4015624 GARD:16770" "GARD:17746 Orphanet:440427 UMLS:C4225400 MEDGEN:895551 OMIM:615486" "OMIM:300858" - "A gammaherpesvirus that contributes to the development of Kaposi sarcoma." "MedDRA:10066435 NCIT:C39291 MONDO:0005187 UMLS:C1512508 NCIt:C39291 MEDGEN:268211" + "A gammaherpesvirus that contributes to the development of Kaposi sarcoma." "NCIT:C39291 MedDRA:10066435 MONDO:0005187 UMLS:C1512508 NCIt:C39291 MEDGEN:268211" "An instance of deficiency anemia that is acquired during the lifetime of the individual." "Orphanet:248302 UMLS:C5680693 MEDGEN:1842907" "Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" "OMIM:193510 OMIM:611584 ICD10:E70.3 MeSH:C536463 OMIM:608890 UMLS:C2700265 OMIM:606662 OMIM:600193" "A long bone is a bone that has a shaft and 2 ends and is longer than it is wide. Long bones have a thick outside layer of compact bone and an inner medullary cavity containing bone marrow. The ends of a long bone contain spongy bone and an epiphyseal plate or line depending on the stage of development. The epiphyseal plate is a hyaline cartilage, where new bone growth takes place, lengthening the bone prior to adulthood. Bone lengthening ceases when this cartilage is lost, leaving a remnant referred to as an epiphyseal line." "Wikipedia:Long_bone NCIT:C33003 galen:LongBone SCTID:332709000 BTO:0004256 MA:0002802 UMLS:C0222647 FMA:7474 EMAPA:35503" @@ -55598,7 +55601,7 @@ "Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions." "UMLS:C0206614 DOID:3533 MESH:D018185 MeSH:D018185 MONDO:0005857 MEDGEN:61642" - "A parasitic helminthiasis infectious disease that involves the intestine." "MESH:C531698 MEDGEN:87591 SCTID:26249004 UMLS:C0348287" + "A parasitic helminthiasis infectious disease that involves the intestine." "MESH:C531698 SCTID:26249004 MEDGEN:87591 UMLS:C0348287" "X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked." "OMIM:312840 UMLS:C1839320 GARD:9288 MEDGEN:374193 MESH:C536630 Orphanet:85285 SCTID:719010001" "Orphanet:73271 GARD:16691" "Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border." "SCTID:80432009 ICD9:757.39 UMLS:C0949506 GARD:4438 Orphanet:735 MEDGEN:181842" @@ -56022,7 +56025,7 @@ "The determination of the amount of complement C3D fragment in a sample" "PMID:28240269" "The amount of a heparan sulfate glucosamine 3-O-sulfotransferase 5 when measured in blood serum." "Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive." "NCIt:C12532 CALOHA:TS-0279 FMA:62861 SNOMEDCT:14793004 MeSH:D004804 BTO:0000399 MESH:D004804" - "Quantification of the amount of cholestryl ester transfer protein in a sample, typically serum." "https://en.wikipedia.org/wiki/Cholesterylester_transfer_protein PMID:29728394" + "Quantification of the amount of cholestryl ester transfer protein in a sample, typically serum." "PMID:29728394 https://en.wikipedia.org/wiki/Cholesterylester_transfer_protein" "quantification of some aspect of facial width, such a the cranial base width" "PMID:27560520" "OMIM:614171 ICD10:E70.3" @@ -56673,7 +56676,7 @@ "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vincristine stimulus." "Quantification of podocalyxin in a sample." "PMID:29875488" "The amount of a Ras-related protein Rab-3A when measured in blood serum." - "A nerve that supplies the upper limb, including the triceps brachii muscle of the arm, as well as all 12 muscles in the posterior osteofascial compartment of the forearm, as well as the associated joints and overlying skin." "Wikipedia:Radial_nerve MA:0001171 VHOG:0000896 EMAPA:17278 MESH:D011826 UMLS:C0034518 EHDAA:5650 NCIT:C52812 EHDAA2:0001584 FMA:37069 SCTID:181011002 GAID:845" + "A nerve that supplies the upper limb, including the triceps brachii muscle of the arm, as well as all 12 muscles in the posterior osteofascial compartment of the forearm, as well as the associated joints and overlying skin." "MA:0001171 VHOG:0000896 EMAPA:17278 MESH:D011826 UMLS:C0034518 EHDAA:5650 NCIT:C52812 EHDAA2:0001584 FMA:37069 SCTID:181011002 GAID:845 Wikipedia:Radial_nerve" "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13." "DOID:0110003" "The determination of the amount of protein set in a sample" "PMID:28240269" @@ -57107,6 +57110,7 @@ "An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall. [ NCIt:P378 ]" "MedDRA:10017838 MedDRA:10017846 DOID:10808 MedDRA:10017843 SCTID:397825006 NCIT:C3388 MedDRA:10055795 HP:0002592 MedDRA:10017839 ICD10CM:K25 MedDRA:10056223 MedDRA:10017822 MONDO:0001126 MESH:D013276 MedDRA:10017844 MedDRA:10017840 MedDRA:10055253 MedDRA:10017841 UMLS:C0038358 MEDGEN:21330 MedDRA:10017845 ICD9:531 ICD10:K25 MedDRA:10017842 MedDRA:10055794" "Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth." "Orphanet:95713 NANDO:2200331 UMLS:C0749420 MEDGEN:155447 GARD:16842" "ICD10:Q87.8" + "The Illumina NovaSeq X is a high-throughput sequencing machine developed by Illumina." "The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division." "MeSH:D002453 Wikipedia:Cell_cycle" "SNOMEDCT:24035004" @@ -57396,7 +57400,7 @@ "ICD10:Q87.2" "The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites." "IDOMAL:0000306" - "An intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination." "EMAPA:18682 Wikipedia:Penis BTO:0000405 GAID:389 EV:0100107 CALOHA:TS-0758 EHDAA2:0001433 VHOG:0000727 UMLS:C0030851 MA:0000408 MESH:D010413 EMAPA_RETIRED:18996 EFO:0000987 MIAA:0000186 MAT:0000186 EHDAA:9380 NCIT:C12409 galen:Penis FMA:9707 SCTID:265793009" + "An intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination." "EMAPA:18682 Wikipedia:Penis BTO:0000405 GAID:389 CALOHA:TS-0758 EV:0100107 EHDAA2:0001433 VHOG:0000727 UMLS:C0030851 MA:0000408 MESH:D010413 EMAPA_RETIRED:18996 EFO:0000987 MIAA:0000186 MAT:0000186 EHDAA:9380 NCIT:C12409 galen:Penis FMA:9707 SCTID:265793009" "SNOMEDCT:36703000 NCIt:C87529" "Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." "Wikipedia:Insect" "A germ cell tumor of the central nervous system occurring in adults." "UMLS:C0280796 DOID:5349 NCIT:C6285 MEDGEN:128893" @@ -57586,7 +57590,7 @@ "Quantification of phospholipase D3 in a sample." "PMID:29875488" "C57BL/6J is a mouse strain as described in Jackson Laboratory http://phenome.jax.org/db/q?rtn=strains/details&strainid=7" "NIFSTD:birnlex_393" "A doubly-charged N-acyl-L-alpha-amino acid anion resulting from deprotonation of both carboxy groups of N-acetyl-L-aspartic acid." "PMID:12718449 PMID:16524379 MetaCyc:CPD-420 PMID:18835755 PMID:19531109 PMID:20421982 PMID:19091459 PMID:4377221 PMID:19850131 PMID:18002959 PMID:18355643 Gmelin:2250815 PMID:17190852 PMID:15836629 PMID:20398713 PMID:18293939 KEGG:C01042 PMID:14645985" - "Inflammation of the colon that is only apparent by microscopic examination." "MeSH:D046728 DOID:60182 Orphanet:58220 MedDRA:10056979 UMLS:C0400821 SCTID:235753003 SNOMEDCT:235753003 MONDO:0000702 NCIT:C38504 DOID:0060182 NCIt:C38504 MEDGEN:98005 ICD9:558.9 ORDO:Orphanet_58220 MESH:D046728" + "Inflammation of the colon that is only apparent by microscopic examination." "MeSH:D046728 DOID:60182 Orphanet:58220 MedDRA:10056979 UMLS:C0400821 SNOMEDCT:235753003 SCTID:235753003 MONDO:0000702 NCIT:C38504 DOID:0060182 NCIt:C38504 MEDGEN:98005 ICD9:558.9 ORDO:Orphanet_58220 MESH:D046728" "OMIM:300886" diff --git a/src/ontology/reports/class-count-by-prefix.tsv b/src/ontology/reports/class-count-by-prefix.tsv index 218437a7..c7a79e3f 100644 --- a/src/ontology/reports/class-count-by-prefix.tsv +++ b/src/ontology/reports/class-count-by-prefix.tsv @@ -12,7 +12,7 @@ "PR" 4774 "BTO" 74 "MP" 3 -"HP" 1881 +"HP" 1882 "DOID" 6 "OGMS" 1 "HANCESTRO" 38 @@ -30,7 +30,7 @@ "WBls" 1 "FMA" 9 "UBERON" 1168 -"" 24354 +"" 24357 "GO" 722 "EO" 43 "OBA" 5144 diff --git a/src/ontology/reports/edges.tsv b/src/ontology/reports/edges.tsv index 21981b61..b8c167a2 100644 --- a/src/ontology/reports/edges.tsv +++ b/src/ontology/reports/edges.tsv @@ -1,12568 +1,12568 @@ ?x ?p ?y - - - - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid295626 - - 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_:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid318695 + - @@ -72883,7 +72886,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid16849 @@ -73147,6 +73149,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319760 @@ -73174,6 +73177,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319360 @@ -73350,6 +73354,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid8584 @@ -73361,7 +73366,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid319143 @@ -73421,8 +73425,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -73515,6 +73519,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid320328 @@ -73522,8 +73527,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -73616,7 +73621,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid6443 @@ -73662,7 +73666,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid319903 @@ -73889,8 +73892,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -73909,9 +73912,9 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + - @@ -73940,21 +73943,21 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + - + - + @@ -73973,9 +73976,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid320563 + @@ -74056,23 +74058,21 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid297901 - + - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid307459 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid318411 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid320924 @@ -74081,6 +74081,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319540 @@ -74116,10 +74117,10 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid310039 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid24885 @@ -74131,6 +74132,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid289607 @@ -74146,12 +74148,13 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + - + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid307549 - + @@ -74166,9 +74169,9 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -74206,8 +74209,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -74254,6 +74257,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid31357 @@ -74275,8 +74279,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -74371,7 +74375,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid31357 @@ -74381,6 +74384,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid320020 @@ -74440,7 +74444,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid36376 @@ -74501,8 +74504,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -74545,7 +74548,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid319067 @@ -74574,7 +74576,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid286035 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319452 @@ -74702,10 +74704,10 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - - + + @@ -74748,10 +74750,9 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid320387 @@ -74856,6 +74857,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid318748 @@ -74872,7 +74874,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid307454 @@ -74965,8 +74966,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -74994,6 +74995,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid318596 @@ -75039,8 +75041,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -75091,14 +75093,15 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319100 - + @@ -75142,6 +75145,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319928 @@ -75251,8 +75255,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -75288,9 +75292,9 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + - @@ -75303,7 +75307,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid319211 @@ -75339,7 +75342,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid307465 @@ -75425,6 +75427,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319796 @@ -75474,7 +75477,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid321115 @@ -75682,8 +75684,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -75765,10 +75767,11 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319280 @@ -75793,7 +75796,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid320163 @@ -75830,7 +75832,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid318358 @@ -75844,6 +75845,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid320352 @@ -75859,9 +75861,9 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + - @@ -75870,7 +75872,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid319267 @@ -75887,7 +75888,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid204 @@ -75941,6 +75941,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319968 @@ -76009,8 +76010,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -76108,7 +76109,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid286749 @@ -76269,7 +76269,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid318507 @@ -76369,7 +76368,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid318951 @@ -76568,7 +76566,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid19585 @@ -76646,10 +76643,10 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -76777,8 +76774,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -76837,8 +76834,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -76856,6 +76853,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid25306 @@ -76937,10 +76935,11 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid320660 @@ -77079,11 +77078,11 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - - + + @@ -77138,8 +77137,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -77164,6 +77163,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid318872 @@ -77214,6 +77214,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid319240 @@ -77271,6 +77272,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid287306 @@ -77362,9 +77364,9 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid287018 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid320612 @@ -77390,6 +77392,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid297703 @@ -77490,6 +77493,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid318544 @@ -77645,7 +77649,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid353877 @@ -77749,8 +77752,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -77865,6 +77868,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid287480 @@ -77884,8 +77888,8 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -77908,9 +77912,9 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + - @@ -78185,9 +78189,9 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - + @@ -78211,7 +78215,6 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 - _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid318455 @@ -78339,6 +78342,7 @@ _:BbafbaddeX2Db77bX2D4a07X2Daec6X2Decb0f35aa924genid354209 + _:Bb88f97b7X2Dc726X2D4990X2D8724X2D30e769ffddc6genid9576 diff --git a/src/ontology/reports/synonyms.tsv b/src/ontology/reports/synonyms.tsv index 7ca54a92..bfd0ca75 100644 --- a/src/ontology/reports/synonyms.tsv +++ b/src/ontology/reports/synonyms.tsv @@ -48,8 +48,8 @@ "1,6-anhydroglucose measurement" "Episodic flaccid weakness" "obsolete_Potocki-Shaffer syndrome" - "brachycephaly, trichomegaly, and developmental delay" "Hyperuricemia" + "brachycephaly, trichomegaly, and developmental delay" "level of dynein light chain Tctex-type 3 in blood serum" "level of max-interacting protein 1 in blood serum" "nervous system disease" @@ -202,8 +202,8 @@ "level of endophilin-B2 in blood serum" "desmoid tumor caused by somatic mutation" "protocadherin-9 measurement" - "temporal lobe volume measurement" "Hyperconvex toenail" + "temporal lobe volume measurement" "level of V-set and immunoglobulin domain-containing protein 8 in blood serum" "euploid" "mitotic-spindle organizing protein 1 measurement" @@ -381,8 +381,8 @@ "arterial disorder" "cerebral cortical dysplasia" "Pigmentation disorder with eye involvement, excluding albinism" - "Abnormal mitochondria in muscle tissue" "beta-defensin 116 measurement" + "Abnormal mitochondria in muscle tissue" "dysmorphism-cleft palate-loose skin syndrome" "Geospiza scandens" "cystathioninuria" @@ -410,8 +410,8 @@ "adenoid cystic carcinoma of oropharynx" "obsolete_KID syndrome" "obsolete_Wilms tumor (bis)" - "CCL11 measurement" "cadherin-related family member 5 measurement" + "CCL11 measurement" "CS57751" "dermatitis, atopic, 2" "retinal dystrophy with or without macular staphyloma" @@ -444,9 +444,9 @@ "regulator of G-protein signaling 5" "Granular Cell Tumor" "obsolete_autosomal recessive ataxia, Beauce type" + "obsolete_congenital deformities of limbs" "obsolete_Ectodermal dysplasia, Berlin type" "level of TBC1 domain family member 25 in blood serum" - "obsolete_congenital deformities of limbs" "uveal cancer" "hexose measurement" "Ichthyophthirius multifiliis" @@ -502,17 +502,17 @@ "orofaciodigital syndrome type 13" "6q terminal deletion syndrome" "albinism" - "level of cell adhesion molecule DSCAML1 in blood serum" "bronchioloalveolar carcinoma" + "level of cell adhesion molecule DSCAML1 in blood serum" "ganglioneuroblastoma" "synthetic construct" "level of methylmalonyl-CoA epimerase, mitochondrial in blood serum" "camptobrachydactyly" "X-linked dominant chondrodysplasia punctata" "cyclin-dependent kinase 2-associated protein 1 measurement" - "echovirus infectious disease" "halothane" "6p22 microdeletion syndrome" + "echovirus infectious disease" "vacuolar protein sorting-associated protein 29" "baculoviral IAP repeat-containing protein 5 measurement" "level of 40S ribosomal protein S4, X isoform in blood serum" @@ -557,8 +557,8 @@ "obsolete_Charcot-Marie-Tooth disease type 1" "Familial hypocalciuric hypercalcemia type 2" "R1" - "glandular cell neoplasm" "Dental ankylosis" + "glandular cell neoplasm" "gram per kilogram per day" "level of GrpE protein homolog 1, mitochondrial in blood serum" "vulvar alveolar soft part sarcoma" @@ -601,9 +601,9 @@ "SSR4-congenital disorder of glycosylation" "viral infectious disease, non-human animal" "CXCL11 measurement" - "saccharin measurement" "pathologic process"@en "pathological process" + "saccharin measurement" "level of protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha in blood serum" "adult choroid plexus neoplasm" "epigenetic factor" @@ -763,8 +763,8 @@ "mood disorder" "PDZ and LIM domain protein 4" "mesenchymal hamartoma" - "obsolete_progressive non-fluent aphasia" "Drosophila melanogaster cell line" + "obsolete_progressive non-fluent aphasia" "corpus callosum posterior volume measurement"@en "profilin-1" "AG11395 cell" @@ -774,9 +774,9 @@ "vagal ganglion 4" "craniometadiaphyseal osteosclerosis with hip dysplasia" "obsolete_cardiac atrium" + "Ptosis - strabismus - ectopic pupils" "nuclear receptor coactivator 2 measurement" "deformed epidermal autoregulatory factor 1" - "Ptosis - strabismus - ectopic pupils" "migraine, familial hemiplegic, 1" "phenacetin" "Aplasia cutis congenita - intestinal lymphangiectasia" @@ -816,8 +816,8 @@ "hereditary vs non-hereditary etiology" "HepG3" "obsolete_PHACE syndrome" - "NCI-H157" "Foveal hypoplasia - presenile cataract" + "NCI-H157" "Quartz-seq" "suicide behaviour" "basic leucine zipper transcriptional factor ATF-like 3" @@ -840,8 +840,8 @@ "poliovirus seropositivity" "phosphatidylcholine diacyl C34:1 measurement" "dirofilariasis" - "level of Phosphatidylethanolamine (18:0_0:0) in blood serum" "CBA/CaJ" + "level of Phosphatidylethanolamine (18:0_0:0) in blood serum" "Crane-Heise syndrome" "CD8_alpha-positive plasmacytoid dendritic cell" "antenatal Bartter syndrome"@en @@ -912,8 +912,8 @@ "X-17010 measurement" "level of Gly-Pro in blood" "myoblast" - "obsolete_iminoglycinuria" "obsolete_Pendred syndrome" + "obsolete_iminoglycinuria" "Kc" "obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess" "EEG with abnormally slow frequencies" @@ -929,8 +929,8 @@ "NCI-H920" "ILSXISS117/TejJ" "obsolete_trunk mesoderm anlage" - "spontaneous preterm birth" "obsolete_response to silica exposure" + "spontaneous preterm birth" "level of cysteine-rich tail protein 1 in blood serum" "transmembrane protein C1orf162" "interleukin 16 measurement" @@ -1008,8 +1008,8 @@ "popliteal artery" "homeobox protein HMX3" "multiple epiphyseal dysplasia, Beighton type" - "external ear carcinoma" "level of ribosome-binding protein 1 in blood serum" + "external ear carcinoma" "level of N-acetylgalactosamine kinase in blood serum" "dihomo-linoleoylcarnitine (C20:2) measurement" "GDNF family receptor alpha-like measurement" @@ -1026,10 +1026,10 @@ "development or differentiation design" "Gynatresia" "VACTERL/vater association" - "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy" "x-linked warfarin sensitivity"@en "talin-2 measurement" "tRNA-specific adenosine deaminase 2" + "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy" "level of IgG receptor FcRn large subunit p51 in blood serum" "Actinobacillus pleuropneumoniae serovar 1 str. 4074" "short stature due to growth hormone qualitative anomaly" @@ -1060,9 +1060,9 @@ "level of clusterin-like protein 1 in blood serum" "arterial embolism" "Zaki syndrome" + "obsolete_Progressive epilepsy and/or ataxia with myoclonus as a major feature" "Bowing of the legs" "level of keratin, type II cytoskeletal 5 in blood serum" - "obsolete_Progressive epilepsy and/or ataxia with myoclonus as a major feature" "Cataract - ataxia - deafness" "Acrodynia" "level of DnaJ homolog subfamily B member 2 in blood serum" @@ -1135,9 +1135,9 @@ "bromobenzene" "uveitis" "postprandial hyperlipidemia" + "2-methoxyhydroquinone glucuronide (2) measurement" "lavage"@en "lavage" - "2-methoxyhydroquinone glucuronide (2) measurement" "Seckel syndrome" "calsyntenin-3" "PRO-seq" @@ -1234,8 +1234,8 @@ "level of homeobox protein goosecoid-2 in blood serum" "Chrysolophus pictus" "stachydrine measurement" - "lymphocyte antigen 86 measurement" "prostate gland" + "lymphocyte antigen 86 measurement" "level of folate receptor alpha in blood serum" "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" "subarachnoid space" @@ -1390,8 +1390,8 @@ "dimethylglycine measurement"@en "ventricular septal defect 1" "late embryonic stage" - "1-carboxyethylleucine measurement" "Cone rod dystrophy" + "1-carboxyethylleucine measurement" "myoepithelial tumor" "tibial aplasia-ectrodactyly syndrome" "familial hemolytic anemia" @@ -1436,15 +1436,15 @@ "obsolete_spinocerebellar ataxia type 25" "putative caspase recruitment domain-containing protein 17P" "HBL-1 cell" - "HMEC1" "fear of pain measurement" + "HMEC1" "blepharophimosis-ptosis-epicanthus inversus syndrome type 2" "restriction-site associated DNA sequencing" "suicide" "Wagner disease" "mediastinal malignant lymphoma" - "CLN2 disease" "oculopharyngodistal myopathy 2" + "CLN2 disease" "X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis" "ATP-dependent NAD(P)H-hydrate dehydratase activity" "pistillate inflorescence" @@ -1460,10 +1460,10 @@ "benign epithelial skin neoplasm" "protein unc-119 homolog B" "tolloid-like protein 1" - "peptidyl-prolyl cis-trans isomerase B measurement" "obsolete_hereditary mixed polyposis syndrome" - "familial dilated cardiomyopathy" + "peptidyl-prolyl cis-trans isomerase B measurement" "methionine measurement" + "familial dilated cardiomyopathy" "ADP-ribosylation factor 1" "level of glycine N-acyltransferase in blood serum" "obsolete_childhood-onset nemaline myopathy" @@ -1517,10 +1517,10 @@ "respiratory syncytial virus seropositivity" "flavin adenine dinucleotide" "autosomal recessive axonal hereditary motor and sensory neuropathy"@en - "IgG fucosylation measurement" "multiple epiphyseal dysplasia" "26S proteasome non-ATPase regulatory subunit 4" "BDC2.5/NOD" + "IgG fucosylation measurement" "trait in response to melphalan" "ventricular septal defect 2" "prostate leiomyoma" @@ -1603,8 +1603,8 @@ "obsolete_autosomal recessive Alport syndrome" "obsolete_spinocerebellar ataxia type 5" "obsolete_response to bleomycin" - "combined oxidative phosphorylation deficiency 45" "obsolete_choroideremia" + "combined oxidative phosphorylation deficiency 45" "ribose phosphate biosynthetic process" "achalasia microcephaly syndrome" "Rho-related GTP-binding protein RhoG" @@ -1638,8 +1638,8 @@ "HUES65" "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase measurement" "macular dystrophy with central cone involvement" - "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2J" "obsolete_pontocerebellar hypoplasia type 1" + "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2J" "Bifid ribs" "interleukin 17 measurement" "biopsy" @@ -1647,10 +1647,10 @@ "alanine--glyoxylate aminotransferase" "level of hydroxyacylglutathione hydrolase-like protein in blood serum" "level of inosine triphosphate pyrophosphatase in blood serum" - "Pelvic dysplasia - arthrogryposis of lower limbs" "presumptive dorsal mesoderm" "neoplasm of hypopharynx" "pancreaticobiliary malunion" + "Pelvic dysplasia - arthrogryposis of lower limbs" "organochlorine pesticide measurement" "SE.02 two nodes or internodes visible stage" "left ventricular hypertrophy" @@ -1729,10 +1729,10 @@ "Adenomyosis" "lysosome" "X-25790 measurement" - "Spondylocostal dysostosis - hypospadias - intellectual disability" "level of protein FAM229A in blood serum" "Hammer Toe Syndrome" "GM17259" + "Spondylocostal dysostosis - hypospadias - intellectual disability" "tapasin measurement" "3C" "maxillary sinus squamous cell carcinoma" @@ -1760,8 +1760,8 @@ "stearoyl-arachidonoyl-glycerophosphocholine (2) measurement" "placental retention" "uterine disorder" - "disorder of lectin complement activation pathway" "NIH3T3" + "disorder of lectin complement activation pathway" "level of aldo-keto reductase family 1 member C3 in blood serum" "obsolete_ventral anterior lateral line ganglion" "seed" @@ -1886,9 +1886,9 @@ "GM17194" "mycosis fungoides and variants" "BPH-1" + "Autosomal recessive spastic paraplegia type 14" "gram per meter squared" "level of keratin, type II cytoskeletal 6A in blood serum" - "Autosomal recessive spastic paraplegia type 14" "dysplasia of cervix" "obsolete_congenital factor XI deficiency" "Cyanobacteria" @@ -1906,11 +1906,11 @@ "Esophageal stricture" "sexual dimorphism measurement"@en "lymphotoxin alpha1:beta2 measurement" - "L-Phenylalanine measurement" "blepharophimosis - intellectual disability syndrome, Ohdo type" "penis verrucous carcinoma" - "ocular toxoplasmosis" "X-linked intellectual disability, Porteous type" + "L-Phenylalanine measurement" + "ocular toxoplasmosis" "level of DNA-binding protein inhibitor ID-2 in blood serum" "Hematological disorder with renal involvement" "level of cyclic AMP-responsive element-binding protein 3-like protein 2 in blood serum" @@ -1922,10 +1922,10 @@ "Acute" "peroxisome biogenesis disorder 8A (Zellweger)" "benign neoplasm of corpus uteri" - "pancreas volume" "level of peptidyl-prolyl cis-trans isomerase FKBP3 in blood serum" "immunodeficiency 70" "CD83 antigen measurement" + "pancreas volume" "disorder of galactose metabolism" "C-Cell Hyperplasia" "level of norrin in blood serum" @@ -1957,9 +1957,9 @@ "response to thioamide" "clathrin light chain A" "Abnormal form of the vertebral bodies" - "obsolete_partial duplication of chromosome 16" "obsolete_interleukin 1 beta measurement" "Spartina anglica" + "obsolete_partial duplication of chromosome 16" "level of inositol polyphosphate 4-phosphatase type II in blood serum" "X-21319 measurement" "Primary Peritoneal Serous Adenocarcinoma" @@ -2001,8 +2001,8 @@ "glucose-to-mannose ratio" "isolated Dandy-Walker malformation without hydrocephalus" "putamen measurement" - "uridine measurement"@en "hindgut proper primordium" + "uridine measurement"@en "amino acid measurement" "vagal placode 3" "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3" @@ -2018,8 +2018,8 @@ "squamous cell carcinoma of colon" "childhood acute megakaryoblastic leukemia" "proteoglycan 3" - "Bubalus bubalis" "hypertrophic cardiomyopathy 17" + "Bubalus bubalis" "short stature due to primary acid-labile subunit deficiency" "emphysematous cholecystitis" "tracheal mucosa" @@ -2038,8 +2038,8 @@ "potassium voltage-gated channel subfamily G member 4 measurement" "Schistosoma mansoni" "HT55" - "obsolete_syndromic ankyloblepharon" "vascular endothelial growth factor C measurement" + "obsolete_syndromic ankyloblepharon" "SARS coronavirus" "autosomal recessive polycystic kidney disease" "bifunctional purine biosynthesis protein ATIC" @@ -2126,8 +2126,8 @@ "generation of precursor metabolites and energy" "muscularis mucosa" "Picornaviridae infectious disease" - "COLO 680N" "protein unc-13 homolog A" + "COLO 680N" "episodic ataxia, type 9" "orbital cellulitis" "ADP-ribosylation factor 3" @@ -2222,10 +2222,10 @@ "complement C1r subcomponent measurement" "level of myosin-binding protein C, slow-type in blood serum" "level of ubiquinone biosynthesis protein COQ7 in blood serum" - "26S proteasome non-ATPase regulatory subunit 6" "trait in response to silicon dioxide" - "histone deacetylase 4" + "26S proteasome non-ATPase regulatory subunit 6" "ventricular septal defect 3" + "histone deacetylase 4" "Charcot-Marie-Tooth disease" "breast-ovarian cancer, familial, susceptibility to, 5" "retrocochlear disease" @@ -2246,9 +2246,9 @@ "obsolete_AICA-ribosiduria" "illuminance unit" "level of protein canopy homolog 4 in blood serum" - "level of enoyl-CoA hydratase, mitochondrial in blood serum" "differential expression analysis data transformation"@en "differential expression analysis data transformation" + "level of enoyl-CoA hydratase, mitochondrial in blood serum" "TruDrop" "cardiac arrest" "Rauch-Steindl syndrome" @@ -2295,8 +2295,8 @@ "epilepsy, idiopathic generalized, susceptibility to, 6" "level of protein Frey in blood serum" "Rat-1" - "lymphoma or leukaemia cell line" "Wernicke encephalopathy" + "lymphoma or leukaemia cell line" "2-nitrotoluene" "UPF0561 protein C2orf68" "Paramecium bursaria Chlorella virus 1" @@ -2312,9 +2312,9 @@ "pyruvate dehydrogenase complex" "GM2-ganglioside accumulation" "Fibular aplasia - ectrodactyly" - "methylsuccinoylcarnitine measurement" "chromatid break measurement" "level of 2-hydroxyacid oxidase 1 in blood serum" + "methylsuccinoylcarnitine measurement" "obsolete_X-linked hypohidrotic ectodermal dysplasia" "Upper limb defect - eye and ear abnormalities" "polybrominated biphenyl measurement" @@ -2398,10 +2398,10 @@ "adult acne" "CS57666" "glutathione synthase activity" - "Genetic developmental defect of the eye" "Hypoplastic acetabulae" - "transmembrane protein 234 measurement" + "Genetic developmental defect of the eye" "obsolete_penis carcinoma" + "transmembrane protein 234 measurement" "(S)-1-pyrroline-5-carboxylate" "alpha-methyl-L-dopa" "familial cystic renal disease" @@ -2440,8 +2440,8 @@ "RELT-like protein 1 measurement" "omega-6 polyunsaturated fatty acid change measurement" "FL.02 1/2 of flowers open stage" - "48,XXYY syndrome" "endometrium neoplasm" + "48,XXYY syndrome" "systemic mastocytosis" "histone H2A type 3 measurement" "superficial epidermolytic ichthyosis" @@ -2462,9 +2462,9 @@ "cutaneous Paget disease" "Disorder of ornithine metabolism" "obsolete_NIH3T3-L1" - "postpartum hemorrhage" "aneuploidy" "obsolete_posterior lateral line ganglion" + "postpartum hemorrhage" "atelosteogenesis type I" "obsolete_congenital hereditary endothelial dystrophy type I" "nicotinic acid mononucleotide measurement" @@ -2480,8 +2480,8 @@ "obsolete_Mobius syndrome" "Leber congenital amaurosis 10" "Immunodeficiency due to absence of thymus" - "blood cell (sensu Nematoda and Protostomia)" "calcyclin-binding protein measurement" + "blood cell (sensu Nematoda and Protostomia)" "Mitchell syndrome" "level of heparan sulfate glucosamine 3-O-sulfotransferase 1 in blood serum" "interleukin 17 receptor A measurement" @@ -2566,8 +2566,8 @@ "obsolete_somatosensory cortex" "Hand-Arm Vibration Syndrome" "level of visinin-like protein 1 in blood serum" - "decenoylcarnitine measurement"@en "tapasin-related protein measurement" + "decenoylcarnitine measurement"@en "obsolete_gastrointestinal stromal tumor" "Malformation syndrome with connective tissue involvement" "G-protein coupled receptor 26" @@ -2627,15 +2627,15 @@ "splicing factor 45" "COM-3 cell" "bulimia nervosa" - "mixed testicular germ cell cancer" "bis(5'-adenosyl)-triphosphatase" + "mixed testicular germ cell cancer" "MAB-seq" "obsolete_fluid shear stress" "obsolete_congenital deformities of fingers" "Entamoeba histolytica" "extensor tendons of finger anomalies" - "natural killer cell activation" "obsolete_metachromatic leukodystrophy, adult form" + "natural killer cell activation" "myristoyl dihydrosphingomyelin (d18:0/14:0) measurement" "anterior lateral line placode" "melanoma, cutaneous malignant, susceptibility to, 9" @@ -2841,10 +2841,10 @@ "Gingivitis" "severe combined immunodeficiency due to CTPS1 deficiency" "obsolete_Usher syndrome" - "autoimmune encephalitis" "obsolete_mucopolysaccharidosis type 4A" - "corneal hysteresis" + "autoimmune encephalitis" "Distal hereditary motor neuropathy type 5" + "corneal hysteresis" "leukocyte cell-derived chemotaxin-2" "bird disease" "level of SUN domain-containing protein 3 in blood serum" @@ -2853,8 +2853,8 @@ "obsolete_Laryngeal dyskinesia" "COLO 699" "orbital plasma cell granuloma" - "hypodermyiasis" "obsolete_potassium-aggravated myotonia" + "hypodermyiasis" "ADP-ribosylation factor 4" "level of cytohesin-3 in blood serum" "obsolete_pseudohypoparathyroidism type 1C" @@ -2874,19 +2874,19 @@ "microtubule-associated protein RP/EB family member 3" "Perimeningeal Infections" "Ataxia - hypogonadism - choroidal dystrophy" - "hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome" "2-linoleoylglycerophosphocholine measurement" + "hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome" "Abnormal skin morphology" "HELP-Seq" "obsolete_elbow" "CD34-positive, GlyA-negative erythroid progenitor cell" - "obsolete_Wilson disease" "obsolete_ALG1-CDG" "POU domain, class 2, transcription factor 1 measurement" "SNP array" "pemphigus herpetiformis" "protein kish-B" "chromosome 19p13.13 deletion syndrome" + "obsolete_Wilson disease" "forkhead box protein C2" "huH-1" "ubiquitin carboxyl-terminal hydrolase 2" @@ -2897,8 +2897,8 @@ "pregnancy associated osteoporosis" "Lake Victoria marburgvirus - Angola2005" "protein S100-A13 measurement" - "Ptosis - syndactyly - learning difficulties" "cancer or benign tumor" + "Ptosis - syndactyly - learning difficulties" "ADULT syndrome" "versican core protein measurement" "Lobular Breast Carcinoma In Situ" @@ -2940,8 +2940,8 @@ "Charcot-Marie-Tooth disease type 2B1" "ovarian disease" "pregnancy-specific beta-1-glycoprotein 1" - "Rare genetic cardiac disease" "gingiva" + "Rare genetic cardiac disease" "complement C1s subcomponent measurement" "indoleacetoylcarnitine measurement" "C-X-C motif chemokine 3" @@ -3060,8 +3060,8 @@ "Abnormal caudate nucleus morphology" "level of SH3 and multiple ankyrin repeat domains protein 3 in blood serum" "Streptomyces clavuligerus" - "level of Gamma-glutamyl-Lysine in blood" "putative apolipoprotein(a)-like protein 2 measurement" + "level of Gamma-glutamyl-Lysine in blood" "lower urinary tract symptom" "level of E3 ubiquitin-protein ligase HECTD3 in blood serum" "level of NKG2-A/NKG2-B type II integral membrane protein in blood serum" @@ -3078,9 +3078,9 @@ "obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease" "cyproheptadine hydrochloride (anhydrous)" "renal efferent arteriole" + "Disorder of purine metabolism" "necrotizing enterocolitis" "Trialeurodes vaporariorum" - "Disorder of purine metabolism" "dorsal root ganglion" "obsolete_isolated oxidative phosphorylation complex disorder" "proline-rich protein 15" @@ -3116,8 +3116,8 @@ "CEL-seq2" "oxaloacetic acid" "obsolete_syndromic microphthalmia" - "immune deficiency, familial variable" "Penile Carcinoma" + "immune deficiency, familial variable" "Respiratory insufficiency due to muscle weakness" "neurodevelopmental disorder with visual defects and brain anomalies" "complete blood cell count" @@ -3133,11 +3133,11 @@ "Abnormal thumb morphology" "very low-density lipoprotein receptor" "coiled-coil domain-containing protein 90B, mitochondrial" - "GATA2 deficiency with susceptibility to MDS/AML" "butyrophilin subfamily 2 member A2" - "level of defensin beta 136 in blood serum" - "dyskeratosis congenita and related telomere biology disorder" "thymus hyperplasia" + "GATA2 deficiency with susceptibility to MDS/AML" + "dyskeratosis congenita and related telomere biology disorder" + "level of defensin beta 136 in blood serum" "(R)-2-hydroxyoctadecanoate" "coagulation factor XI" "trisomy" @@ -3242,16 +3242,16 @@ "Dermatochalasis" "1-oleoylglycerophosphoethanolamine measurement" "obsolete_motor stereotypies" - "level of cadherin-4 in blood serum" "X-linked spastic paraplegia type 16" + "level of cadherin-4 in blood serum" "level of EF-hand domain-containing protein D1 in blood serum" "beta-hexosaminidase subunit beta" "X-25802 measurement" "obsolete_Hearing Loss, Noise-Induced" "level of visual system homeobox 1 in blood serum" - "obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease" "phosphatidylcholine 36:0 measurement" "MIA Paca-2" + "obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease" "cAMP-dependent protein kinase type I-beta regulatory subunit measurement" "interleukin-1 beta (Homo sapiens)" "glutamine metabolic process" @@ -3267,8 +3267,8 @@ "obsolete_hemoglobin H disease" "malignant pleural mesothelioma" "level of cAMP-responsive element-binding protein-like 2 in blood serum" - "mismatch repair cancer syndrome 1" "Hypomyelination with atrophy of basal ganglia and cerebellum" + "mismatch repair cancer syndrome 1" "four and a half LIM domains protein 1" "6-oxopiperidine-2-carboxylate measurement" "iminoglycinuria" @@ -3336,14 +3336,14 @@ "ulcer disease" "naive T cell" "severe combined immunodeficiency due to LAT deficiency" - "obsolete_Holmes-Gang syndrome" "pancreatic insulinoma" "postoptic commissure" "AG07139" + "obsolete_Holmes-Gang syndrome" "testican-1 measurement" "1,4-dioxane" - "obsolete_distal symphalangism" "triglycerides to total lipids in very large HDL percentage " + "obsolete_distal symphalangism" "KP-4" "podocyte" "obsolete_velo-facial-skeletal syndrome" @@ -3482,8 +3482,8 @@ "methylmalonic acidemia" "Tolchin-Le Caignec syndrome" "dual 3';5'-cyclic-AMP and -GMP phosphodiesterase 11A measurement" - "generalized galactose epimerase deficiency" "Familial esophageal achalasia" + "generalized galactose epimerase deficiency" "Calcifying Nested Epithelial Stromal Tumor of the Liver" "nucleoside diphosphate kinase B measurement" "level of ubiquitin-conjugating enzyme E2 R2 in blood serum" @@ -3566,8 +3566,8 @@ "uncharacterized protein C1orf226 (human)" "Low Grade Central Osteosarcoma" "bone neoplasm" - "obsolete_distal monosomy 7p" "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" + "obsolete_distal monosomy 7p" "glial brain cell" "Cribriform Carcinoma" "xanthomonas seropositivity" @@ -3630,12 +3630,12 @@ "Bile acid synthesis defect with cholestasis and malabsorption" "Macroptilium atropurpureum" "dematin" - "carboxypeptidase D" "obsolete_isolated congenital ectropion" + "carboxypeptidase D" + "Anonychia - onychodystrophy" "S2" "agnosia" "level of triglyceride in blood serum" - "Anonychia - onychodystrophy" "diacylglycerol 36:4 measurement" "TAmC-Seq" "inferior colliculus" @@ -3703,8 +3703,8 @@ "Colinus virginianus" "obsolete_congenital laryngeal web" "3-Indolepropionic acid to LysoPC 18:0 ratio" - "obsolete_Autosomal dominant cervical dystonia" "GM17780" + "obsolete_Autosomal dominant cervical dystonia" "serotonergic drug" "ankyrin repeat domain-containing protein 40" "ADP-ribosylation factor 5" @@ -3764,9 +3764,9 @@ "relapsing-remitting multiple sclerosis" "level of coiled-coil domain-containing protein 134 in blood serum" "ganglion" - "obsolete_Infantile Refsum disease" "endomyocardial fibrosis" "autoinflammatory syndrome, familial, X-linked, Behcet-like 2" + "obsolete_Infantile Refsum disease" "dioxygen" "proteinase-activated receptor 1 measurement" "level of proline-rich protein 15 in blood serum" @@ -3858,8 +3858,8 @@ "arhinia, choanal atresia, and microphthalmia" "angiopoietin-related protein 3 measurement" "magnesium measurement" - "neurocutaneous syndrome" "184A1 cell" + "neurocutaneous syndrome" "level of density-regulated protein in blood serum" "obsolete_paternal uniparental disomy of chromosome 7" "protein phosphatase methylesterase 1" @@ -3975,8 +3975,8 @@ "obsolete_adactyly of foot, unilateral" "stomach" "level of DNA topoisomerase 2-binding protein 1 in blood serum" - "carotid artery endothelium" "Ehlers-Danlos syndrome, progeroid type" + "carotid artery endothelium" "erucate" "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities" "symptomatic form of hemophilia A in female carriers" @@ -3994,8 +3994,8 @@ "vasopressin secretion" "immunoglobulin superfamily DCC subclass member 3 measurement" "palmitoyl-linoleoyl-glycerol (16:0/18:2) [1] measurement" - "facial dysmorphism-immunodeficiency-livedo-short stature syndrome" "obsolete_Ruvalcaba syndrome" + "facial dysmorphism-immunodeficiency-livedo-short stature syndrome" "oxoadipic acid measurement" "cyclin-H" "hypervalinemia and hyperleucine-isoleucinemia" @@ -4150,16 +4150,16 @@ "X-linked intellectual disability, Sutherland-Haan type" "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" "obsolete_snowflake vitreoretinal degeneration" - "Dyspareunia" "ferulylglycine (2) measurement" + "Dyspareunia" "RNA-binding protein 24" "posterior thigh muscle volume"@en "Sheldon-hall syndrome" "oxylipin" "striatonigral degeneration" + "progeroid features-hepatocellular carcinoma predisposition syndrome" "4-(4-Hydroxyphenyl)-2-butanol" "carpal tunnel syndrome" - "progeroid features-hepatocellular carcinoma predisposition syndrome" "MKN28" "glycine betaine" "spermatogenic failure 64" @@ -4243,9 +4243,9 @@ "myopathy" "obsolete_ascending colon" "growth condition design" - "obsolete_familial isolated arrhythmogenic ventricular dysplasia, left dominant form" "microcephaly with lissencephaly and/or hydranencephaly" "bathing suit ichthyosis" + "obsolete_familial isolated arrhythmogenic ventricular dysplasia, left dominant form" "metastatic malignant neoplasm in the eye" "malignant cardiac germ cell tumor" "pre-mRNA-processing factor 6 measurement" @@ -4325,9 +4325,9 @@ "diacylglycerol 36:5 measurement" "beta-thalassemia HBB/LCRB" "free cholesterol in HDL measurement " + "Niemann-Pick disease type E" "umbilical vein" "Hyperphosphatemia" - "Niemann-Pick disease type E" "2,4-D" "Meckel syndrome" "level of Rho-related GTP-binding protein RhoC in blood serum" @@ -4347,14 +4347,14 @@ "extranodal nasal NK/T cell lymphoma" "Toll-like receptor 10" "COLO 800" - "sperm motility measurement" + "pregnenediol disulfate (C21H34O8S2) measurement" "citalopram" + "sperm motility measurement" "inclusion conjunctivitis" "liver disease" "diffuse type adenocarcinoma" "hemolytic anemia due to diphosphoglycerate mutase deficiency" "level of protein FAM171A2 in blood serum" - "pregnenediol disulfate (C21H34O8S2) measurement" "intercellular adhesion molecule 3 measurement" "Wheat streak mosaic virus" "CACNA1A-related complex neurodevelopmental disorder" @@ -4389,8 +4389,8 @@ "HiTS-Flip" "Perrault syndrome 1" "age of onset of myopia" - "obsolete_X-linked neurodegenerative syndrome, Bertini type" "GM17811" + "obsolete_X-linked neurodegenerative syndrome, Bertini type" "obsolete_sclerosteosis" "S-adenosylhomocysteine hydrolase-like protein 1" "pregnancy-specific beta-1-glycoprotein 2 measurement" @@ -4412,8 +4412,8 @@ "central retinal vein" "non-typhoidal Salmonella bacteremia" "blastic plasmacytoid dendritic cell neoplasm" - "obsolete_lethal occipital encephalocele-skeletal dysplasia syndrome" "developmental and epileptic encephalopathy 97" + "obsolete_lethal occipital encephalocele-skeletal dysplasia syndrome" "gliosarcoma" "Cutaneous Follicular Lymphoma" "non-syndromic limb reduction defect" @@ -4422,13 +4422,13 @@ "obsolete_hereditary sclerosing poikiloderma, Weary type" "GM17196" "obsolete_microform holoprosencephaly" - "alpha-mannosidosis, infantile form" "Small Intestinal Intraepithelial Neoplasia" + "alpha-mannosidosis, infantile form" "combined low LDL and fibrinogen" "Aspergillus fumigatus" "obsolete_pectoral fin skeleton" - "level of coiled-coil domain-containing protein 90B, mitochondrial in blood serum" "2-palmitoylglycerophosphocholine measurement" + "level of coiled-coil domain-containing protein 90B, mitochondrial in blood serum" "myopathy, distal, 7, adult-onset, X-linked" "heat shock-related 70 kDa protein 2" "syndromic X-linked intellectual disability Siderius type" @@ -4447,8 +4447,8 @@ "thoracic segment of trunk" "byssinosis" "Peripheral pulmonary artery stenosis" - "obsolete_craniofacial-deafness-hand syndrome" "level of ER membrane protein complex subunit 8 in blood serum" + "obsolete_craniofacial-deafness-hand syndrome" "M426"@en "level of diphosphoinositol polyphosphate phosphohydrolase 3-beta in blood serum" "level of plastin-1 in blood serum" @@ -4502,8 +4502,8 @@ "CV-1" "autosomal recessive distal renal tubular acidosis" "multinuclear odontoclast" - "1-palmitoyl-2-dihomo-linolenoyl-GPE (16:0/20:3) measurement" "glutamate dehydrogenase 1, mitochondrial" + "1-palmitoyl-2-dihomo-linolenoyl-GPE (16:0/20:3) measurement" "benzoic acid" "KARPAS 231" "leukocyte-specific transcript 1 protein measurement" @@ -4552,8 +4552,8 @@ "head mesenchyme from mesoderm" "AG10049" "Anti-cytomegalovirus IgG measurement" - "obsolete_primary localized amyloidosis" "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 measurement" + "obsolete_primary localized amyloidosis" "total campesterol measurement"@en "autosomal dominant nonsyndromic hearing loss 13" "interleukin 18 receptor 1 measurement" @@ -4638,9 +4638,9 @@ "Bardet-Biedl syndrome 15" "vinculin measurement" "retinaldehyde-binding protein 1 measurement" - "ephrin-A3 measurement" "cortisone reductase deficiency" "obsolete progressive cerebello-cerebral atrophy" + "ephrin-A3 measurement" "programmed death-ligand 1 measurement" "obsolete inherited tremor disorder" "Galloway-Mowat syndrome" @@ -4661,9 +4661,9 @@ "autosomal dominant nonsyndromic hearing loss 3A" "OE21" "obsolete_Axenfeld anomaly" - "epidermal growth factor receptor" - "rostral blood island" "p-coumaroyl vitisin A measurement" + "rostral blood island" + "epidermal growth factor receptor" "Arthroderma cajetani" "activated CD8-positive, alpha-beta T cell" "bone morphogenetic protein 15" @@ -4702,8 +4702,8 @@ "ichthyosis linearis circumflexa" "mitochondrial DNA depletion syndrome 13" "Pancreatic insufficiency - anemia - hyperostosis" - "level of serine protease inhibitor Kazal-type 5 in blood serum" "regulation of mitotic nuclear division" + "level of serine protease inhibitor Kazal-type 5 in blood serum" "lower extremity fracture" "oxypurinol measurement" "Hordeolum" @@ -4752,9 +4752,9 @@ "Polyneuropathy - hand defect" "obsolete_X-linked Emery-Dreifuss muscular dystrophy" "Hypertelorism - hypospadias - polysyndactyly syndrome" - "Hereditary proximal myopathy with early respiratory failure" "Müllerian derivatives - lymphangiectasia - polydactyly" "autosomal recessive osteopetrosis 2" + "Hereditary proximal myopathy with early respiratory failure" "level of polyadenylate-binding protein 5 in blood serum" "thyroid hormone receptor alpha measurement" "Hs 695T" @@ -4763,9 +4763,9 @@ "Immunodeficiency syndrome with hypopigmentation" "HCC0033" "obsolete_flag leaf" - "Medullary Cystic Kidney Disease Type I" "CME-W1-Cl.8+" "mimecan" + "Medullary Cystic Kidney Disease Type I" "level of a disintegrin and metalloproteinase with thrombospondin motifs 6 in blood serum" "psychosexual disorder" "ileum" @@ -4824,8 +4824,8 @@ "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" "protein HEXIM2" "Echinochloa glabrescens" - "BTB/POZ domain-containing protein KCTD6" "docosapentaenoate (n6 DPA; 22:5n6) measurement" + "BTB/POZ domain-containing protein KCTD6" "phosphatidylcholine 38:7 measurement" "obsolete_neurofibromatosis" "T1 (174 x CEM.T1) cell" @@ -4942,8 +4942,8 @@ "O-oleoylcarnitine" "chromoblastomycosis" "obsolete_congenital trochlear nerve palsy" - "childhood T acute lymphoblastic leukemia" "Phe-Gly" + "childhood T acute lymphoblastic leukemia" "autoimmune myocarditis" "protein O-glucosyltransferase 3" "human herpesvirus 8-related tumor" @@ -4991,10 +4991,10 @@ "microcephaly-micromelia syndrome" "polyunsaturated fatty acid lipoxygenase ALOX15B" "Pan troglodytes troglodytes" - "Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation" "non-POU domain-containing octamer-binding protein" "3-mercaptopyruvate sulfurtransferase" "level of (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol in blood serum" + "Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation" "diacylglycerol 38:3 measurement" "rhizomelic limb shortening with dysmorphic features" "TATL-seq" @@ -5089,9 +5089,9 @@ "sphinganine" "GTP-binding protein GEM" "pregnancy-specific beta-1-glycoprotein 6 measurement" - "nerve conduction velocity" "Smooth philtrum" "SM1" + "nerve conduction velocity" "Abnormal erythrocyte morphology" "dilated cardiomyopathy 1GG" "obsolete_fragile X syndrome" @@ -5138,10 +5138,10 @@ "Poppelsdorf ecotype" "obsolete_Moyamoya disease" "Congenital muscular dystrophy due to dystroglycanopathy" - "triacylglycerol 56:8 measurement"@en "breast invasive ductal carcinoma cell" "FL.00 first flower(s) open stage" "2-hydroxyacid oxidase 1" + "triacylglycerol 56:8 measurement"@en "obsolete_coronary artery" "obsolete_Bardet-Biedl syndrome" "RCC-4 cell" @@ -5161,8 +5161,8 @@ "hemolytic anemia due to erythrocyte adenosine deaminase overproduction" "multi fate stem cell" "obsolete_perinatal lethal hypophosphatasia" - "Psoas abscess" "punctate palmoplantar keratoderma type III" + "Psoas abscess" "endothelin-2 measurement" "vanillylmandelate" "occipital lobe" @@ -5192,10 +5192,10 @@ "level of semaphorin-4B in blood serum" "COLO 849" "obsolete_rhizomelic dysplasia, Patterson-Lowry type" - "risk-taking behaviour" "Burkholderia thailandensis" - "infectious ectromelia" + "risk-taking behaviour" "cirrhosis of liver" + "infectious ectromelia" "cutaneous focal mucinosis" "level of MORF4 family-associated protein 1-like 1 in blood serum" "thrombocytopenia 1" @@ -5208,8 +5208,8 @@ "ubiquitin-conjugating enzyme E2 variant 1 measurement" "blepharocheilodontic syndrome 1" "secreted frizzled-related protein 2" - "Hs 675.T" "Yersinia infectious disease" + "Hs 675.T" "thrombomodulin measurement" "Vero" "floor plate of neural tube" @@ -5316,8 +5316,8 @@ "epidural neoplasm" "obsolete_hereditary hemorrhagic telangiectasia" "obsolete_cortex" - "SIR2-like protein 2 measurement" "Lethal hemolytic anemia - genital anomalies" + "SIR2-like protein 2 measurement" "health study participation" "unswitched memory B cell" "akkermansia seropositivity" @@ -5438,8 +5438,8 @@ "response to interferon" "Leber congenital amaurosis 2" "MethylCap-Seq" - "obsolete_congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" "future brain" + "obsolete_congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" "Melospiza melodia" "isolated congenital hypoglossia/aglossia" "hypospadias" @@ -5485,8 +5485,8 @@ "pulsed doppler echocardiography" "lower epidermis" "cholesterol to total lipids in large LDL percentage " - "level of RELT-like protein 2 in blood serum" "urine protein measurement" + "level of RELT-like protein 2 in blood serum" "gonad primordium" "3-methyl-2-oxobutyrate measurement" "mitochondrial pyruvate carrier deficiency" @@ -5508,17 +5508,17 @@ "apocrine sweat gland" "hTERT-RPE1"@en "obsolete homozygous 2p21 microdeletion syndrome" + "14q22q23 microdeletion syndrome" "zardaverine" "Bacteroides vulgatus" "erythrocytosis, familial, 4" - "14q22q23 microdeletion syndrome" "pregnancy" "phosphatidylcholine 39:5 measurement" + "obsolete_Rh deficiency syndrome" "Eca-109 cell" "substance unit" - "obsolete_Rh deficiency syndrome" - "collagen 6-related myopathy" "obsolete_Klippel-Trenaunay syndrome" + "collagen 6-related myopathy" "level of leucine-rich repeat-containing protein 3 in blood serum" "level of methanethiol oxidase in blood serum" "Microcephaly - seizures - intellectual disability - heart disease" @@ -5528,8 +5528,8 @@ "autosomal recessive hereditary sensory and autonomic neuropathy" "flagellin seropositivity" "proteasome-associated autoinflammatory syndrome 5" - "Kilquist syndrome" "oleoyl-arachidonoyl-glycerol (18:1/20:4) [2] measurement" + "Kilquist syndrome" "aorta" "developmental and epileptic encephalopathy, 45" "sterol biosynthesis disorder" @@ -5553,9 +5553,9 @@ "phosphopantothenoylcysteine decarboxylase measurement" "mutARS-Seq" "level of acyl-coenzyme A thioesterase THEM4 in blood serum" - "Gyrate atrophy of choroid and retina" "Choroideremia - deafness - obesity" "UDP-glucuronosyltransferase 1-6" + "Gyrate atrophy of choroid and retina" "GM17145" "glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form" "level of protein N-terminal glutamine amidohydrolase in blood serum" @@ -5603,8 +5603,8 @@ "blepharophimosis-impaired intellectual development syndrome" "Lacrimation abnormality" "Jeffries-Lakhani neurodevelopmental syndrome" - "childhood T lymphoblastic lymphoma" "level of protein Red in blood serum" + "childhood T lymphoblastic lymphoma" "Agrotis ipsilon" "DMS153" "congenital" @@ -5706,8 +5706,8 @@ "free cholesterol in LDL measurement " "Microscopic hematuria" "22q11.2 deletion syndrome" - "dendritic epidermal T cell" "obsolete_Monosomy 18q" + "dendritic epidermal T cell" "level of RING-type E3 ubiquitin-protein ligase PPIL2 in blood serum" "VIP36-like protein measurement" "Bacillus cereus G9842" @@ -5792,19 +5792,19 @@ "obsolete PIK3CA-related overgrowth syndrome" "adrenomyodystrophy" "obsolete_cerebrotendinous xanthomatosis" - "1-oleoylglycerol (18:1) measurement" "Gossypium hirsutum" "NT-1" "embryonic labial sensory complex" + "1-oleoylglycerol (18:1) measurement" "HSD10 disease" "insulin gene enhancer protein ISL-1" + "obsolete_Barth syndrome" "KARPAS-620" - "level of actin-related protein 2/3 complex subunit 3 in blood serum" "level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 in blood serum" + "level of actin-related protein 2/3 complex subunit 3 in blood serum" "level of Phosphatidylinositol (18:0_18:1) in blood serum" "trichostrongylosis" "Oncorhynchus kisutch" - "obsolete_Barth syndrome" "CDGSH iron-sulfur domain-containing protein 2" "Theiler stage 14" "level of chymotrypsin-C in blood serum" @@ -5854,8 +5854,8 @@ "rho guanine nucleotide exchange factor 1 measurement" "asparagylleucine measurement" "Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability" - "Short tarsus - absence of lower eyelashes" "obsolete_pseudounicornuate uterus" + "Short tarsus - absence of lower eyelashes" "iPS-NIHi11" "Rare thrombotic disorder due to a constitutional platelet anomaly" "complement decay-accelerating factor measurement" @@ -5888,10 +5888,10 @@ "Cerebral visual impairment" "total iron binding capacity" "(lyso)-N-acylphosphatidylethanolamine lipase" - "4-androsten-3alpha,17alpha-diol monosulfate (2) measurement" "UV excision repair protein RAD23 homolog B" "benign male reproductive system neoplasm" "autosomal recessive omodysplasia" + "4-androsten-3alpha,17alpha-diol monosulfate (2) measurement" "Prominent forehead" "obsolete_secondary dysgenetic glaucoma" "N-lignoceroyl taurine measurement" @@ -6095,9 +6095,9 @@ "partial duplication of the long arm of chromosome 6" "Chronic Obstructive Asthma" "obsolete_Leydig cell hypoplasia due to partial LH resistance" - "coiled-coil domain-containing protein 134 measurement" "trunk bone mineral density"@en "Nail dystrophy" + "coiled-coil domain-containing protein 134 measurement" "level of RNA-binding protein Nova-1 in blood serum" "obsolete_axial mesodermal dysplasia spectrum" "ectodermal dysplasia-sensorineural deafness syndrome" @@ -6144,10 +6144,10 @@ "microbiome measurement" "Coxa vara" "Neuroblastic Tumor" - "obsolete_Glycogen storage disease due to LAMP-2 deficiency" "level of alpha-galactosidase A in blood serum" "endocrine disruptor" "Crohn's disease" + "obsolete_Glycogen storage disease due to LAMP-2 deficiency" "coiled-coil domain-containing protein 149" "WSU-NHL" "GM11832" @@ -6215,8 +6215,8 @@ "level of reelin in blood serum" "urine glucose measurement" "ribonucleoside metabolic process" - "torsion dystonia 4" "3-methyl-2-oxovalerate measurement" + "torsion dystonia 4" "thioredoxin" "Abnormality of chromosome segregation" "fetal akinesia deformation sequence" @@ -6267,8 +6267,8 @@ "level of hedgehog-interacting protein in blood serum" "leucine-rich repeat transmembrane neuronal protein 2" "obsolete_familial digital arthropathy-brachydactyly" - "obsolete_saccharopinuria" "level of arginine/serine-rich protein 1 in blood serum" + "obsolete_saccharopinuria" "phosphoribosyl pyrophosphate synthase-associated protein 1 measurement" "level of THO complex subunit 1 in blood serum" "Cenani-Lenz syndactyly syndrome" @@ -6286,9 +6286,9 @@ "thrombopoietin receptor measurement" "acquired" "Beckwith-Wiedemann syndrome due to CDKN1C mutation" - "abdominal:gluteofemoral adipose tissue ratio measurement" "TraB domain-containing protein" "villitis" + "abdominal:gluteofemoral adipose tissue ratio measurement" "Ribo-seq" "KYSE-150" "Rap1 GTPase-GDP dissociation stimulator 1" @@ -6328,8 +6328,8 @@ "level of cyclin-dependent kinase-like 2 in blood serum" "fGS/OSS" "conjunctival degeneration" - "Penicillium fellutanum" "obsolete_lower limb hypertrophy" + "Penicillium fellutanum" "calpastatin measurement" "Arteritis" "alopecia-epilepsy-pyorrhea-intellectual disability syndrome" @@ -6347,8 +6347,8 @@ "medulloblastoma with extensive nodularity" "obsolete_sigmoid colon" "CB189" - "early-onset anterior polar cataract" "Amelo-onycho-hypohidrotic syndrome" + "early-onset anterior polar cataract" "obsolete_familial isolated hypoparathyroidism due to agenesis of parathyroid gland" "freckles" "intellectual disability-balding-patella luxation-acromicria syndrome" @@ -6414,9 +6414,9 @@ "intellectual disability, autosomal dominant 2" "obsolete_caudal tuberal nucleus" "conducting system of heart" + "Rare genetic deafness" "external ear cancer" "glomerular endothelium" - "Rare genetic deafness" "glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form" "serotonin" "osteomodulin measurement" @@ -6437,12 +6437,12 @@ "level of lutropin subunit beta in blood serum" "cyanine dye" "Canis lupus" - "GSK3-beta interaction protein measurement" "immature dermal dendritic cell" "obsolete_lateral cord surface glia" "B melanoma antigen 3" "F123-CASTx129" "level of killer cell immunoglobulin-like receptor 2DS2 in blood serum" + "GSK3-beta interaction protein measurement" "tumor necrosis factor measurement"@en "familial partial epilepsy" "Combined immunodeficiency T+ B+ due to partial RAG1 deficiency" @@ -6524,10 +6524,10 @@ "obsolete_acrorenal syndrome" "low-level copy number loss" "Cystic fibrosis - gastritis - megaloblastic anemia" - "2-oleoylglycerol (18:1) measurement" - "triacylglycerol 58:10 measurement"@en "pneumonia caused by chlamydia" + "2-oleoylglycerol (18:1) measurement" "viral pericarditis" + "triacylglycerol 58:10 measurement"@en "level of actin-related protein 2/3 complex subunit 5 in blood serum" "osteoclast-stimulating factor 1" "SALK_037727" @@ -6555,9 +6555,9 @@ "erucic acid" "pulmonary aspergillosis" "ephrin type-B receptor 3 measurement" - "Autosomal recessive cerebellar ataxia - blindness - deafness" "MAX gene-associated protein" "childhood medulloblastoma" + "Autosomal recessive cerebellar ataxia - blindness - deafness" "GM12760" "diacylglycerol 38:5 measurement" "CPT-seq" @@ -6624,9 +6624,9 @@ "humero-radio-ulnar synostosis, unilateral" "Glaucoma associated with neural crest cell migration anomaly" "Fusarium avenaceum" - "sorting nexin-17 measurement" "transcription factor IIIb 90 kda subunit measurement" "Tented upper lip vermilion" + "sorting nexin-17 measurement" "Bartter syndrome" "3-Indolepropionic acid to LysoPC 20:2 ratio" "obsolete non-syndromic limb overgrowth" @@ -6671,11 +6671,11 @@ "diffuse gastric adenocarcinoma" "Tietz syndrome" "transmembrane and ubiquitin-like domain-containing protein 2 measurement" - "Mitochondrial disease with peripheral neuropathy" "obsolete_thecal cell layer" - "partial pressure of oxygen measurement" "level of phospholipid transfer protein in blood serum" + "partial pressure of oxygen measurement" "EKVX" + "Mitochondrial disease with peripheral neuropathy" "laryngitis" "human gut metagenome" "tubulin-specific chaperone E" @@ -6842,8 +6842,8 @@ "Hordeum vulgare subsp. spontaneum" "fatal infantile encephalocardiomyopathy" "intraductal cribriform breast adenocarcinoma" - "nasopharyngeal squamous cell carcinoma" "Central polydactyly of toes, unilateral" + "nasopharyngeal squamous cell carcinoma" "pseudotumor cerebri" "vascular cancer" "Pseudomonas fluorescens Pf0-1" @@ -6874,8 +6874,8 @@ "bladder urachal adenocarcinoma" "level of CDK5 regulatory subunit-associated protein 3 in blood serum" "3-(5-fluorouracil-1-yl)-L-alanine" - "Blood Cell Count Ratio Measurement" "level of inositol oxygenase in blood serum" + "Blood Cell Count Ratio Measurement" "glucagon measurement" "intellectual disability-seizures-macrocephaly-obesity syndrome" "Ovarian Microcystic Stromal Tumor" @@ -6889,9 +6889,9 @@ "PCARE-related retinopathy" "bladder signet ring cell adenocarcinoma" "cancer aggressiveness measurement" - "obsolete_Familial aortic dissection" "glioma susceptibility 2" "myeloid leukemia factor 1" + "obsolete_Familial aortic dissection" "haemophilus influenzae seropositivity" "spermatogenic failure 51" "eukaryotic-type small ribosomal subunit protein uS11" @@ -6992,8 +6992,8 @@ "ideomotor apraxia" "Sorsby's fundus dystrophy" "Absence of fingerprints - congenital milia" - "obsolete_Wolf-Hirschhorn syndrome" "obsolete_Hunter-McAlpine craniosynostosis" + "obsolete_Wolf-Hirschhorn syndrome" "homocitrate(1-)" "level of protein regulator of cytokinesis 1 in blood serum" "Insulin resistance" @@ -7002,8 +7002,8 @@ "level of tryptase alpha/beta-1 in blood serum" "blood pressure change measurement" "obsolete_primary bone dysplasia with disorganized development of skeletal components" - "whole-brain volume" "eosinophilic promyelocyte" + "whole-brain volume" "Lesch-Nyhan syndrome" "Hepatic hemangioma" "UMC11" @@ -7245,8 +7245,8 @@ "obsolete_focal palmoplantar keratoderma with joint keratoses" "Vaginal Squamous Cell Carcinoma" "diacylglycerol 42:7 measurement" - "CRE-Seq" "Jurkat" + "CRE-Seq" "cold-induced sweating syndrome" "free cholesterol in medium LDL measurement " "herpetic whitlow" @@ -7396,8 +7396,8 @@ "caudal duplication" "protein jagged-2 measurement" "platelet glycoprotein 4 measurement" - "hereditary poikiloderma" "Ankyloblepharon - ectodermal defects - cleft lip/palate" + "hereditary poikiloderma" "PDZ domain-containing protein 7" "diplegia of upper limb" "Abnormality of the anus" @@ -7463,8 +7463,8 @@ "M-phase inducer phosphatase 1" "enthesitis" "GM14467" - "papillary carcinoma" "columnar neuron" + "papillary carcinoma" "mesenteric lymph node" "level of calcium-dependent secretion activator 2 in blood serum" "G protein-coupled receptor kinase 5" @@ -7531,15 +7531,15 @@ "GTP-binding protein Di-Ras3" "low-density lipoprotein receptor class A domain-containing protein 4" "heart cancer" + "integral membrane protein 2C measurement" "skin disorder caused by infection" "urethral syndrome" "transcription factor HES-3" - "integral membrane protein 2C measurement" "level of von Willebrand factor A domain-containing protein 2 in blood serum" "syncytiotrophoblast" "level of 40S ribosomal protein S12 in blood serum" - "obsolete_mal de Meleda" "skeletal dysplasia, mild, with joint laxity and advanced bone age" + "obsolete_mal de Meleda" "lipomatous cancer" "Sertoli cell" "cerebral dopamine neurotrophic factor measurement" @@ -7563,9 +7563,9 @@ "level of 13-hydroxyoctadecadienoic acid in blood plasma" "level of EH domain-binding protein 1 in blood serum" "hereditary sensory and autonomic neuropathy with spastic paraplegia" + "obsolete_congenital unilateral hypoplasia of depressor anguli oris" "V-type proton ATPase subunit C 1" "level of spermatogenesis-associated protein 24 in blood serum" - "obsolete_congenital unilateral hypoplasia of depressor anguli oris" "level of prominin-1 in blood serum" "soluble transferrin receptor measurement" "all-trans-retinol dehydrogenase [NAD(+)] ADH1B" @@ -7614,8 +7614,8 @@ "sn-glycerol 3-phosphate" "small nuclear ribonucleoprotein F measurement" "Ovarian Mixed Epithelial Tumor" - "hereditary spastic paraplegia 11" "Blood Cell Count with Differential" + "hereditary spastic paraplegia 11" "level of MIT domain-containing protein 1 in blood serum" "Crassostrea virginica" "glucose-dependent insulinotropic peptide measurement" @@ -7705,9 +7705,9 @@ "nuclear factor NF-kappa-B p105 subunit" "carotid-femoral pulse wave velocity" "ubiquitin-conjugating enzyme E2 T measurement" - "level of ubiquitin-conjugating enzyme E2 E3 in blood serum" "sialic acid-binding Ig-like lectin 8" "fatty acid oxidation" + "level of ubiquitin-conjugating enzyme E2 E3 in blood serum" "eccrine sweat gland" "transcription factor 4" "carbonic anhydrase 13 measurement" @@ -7722,8 +7722,8 @@ "gastrula 90%-epiboly" "8-hydroxydeoxyguanosine measurement"@en "classic medulloblastoma" - "GM11881" "CB306" + "GM11881" "corneal topography" "obsolete coralliform cataract" "leucine-rich repeat and fibronectin type-III domain-containing protein 3" @@ -7748,9 +7748,9 @@ "Eosinophilic Myelocyte Count" "matrix metalloproteinase 8 measurement" "W syndrome" - "triacylglycerol 49:1 measurement" "tissue factor measurement"@en "tonsillectomy risk measurement" + "triacylglycerol 49:1 measurement" "disease susceptibility" "postsynaptic density" "obsolete symbiotic process mediated by secreted substance" @@ -7761,8 +7761,8 @@ "obsolete_congenital brain dysgenesis due to glutamine synthetase deficiency" "LAMA2-related muscular dystrophy" "myofibrillar myopathy 11" - "chronic hepatitis" "neurodevelopmental disorder with hyperkinetic movements and dyskinesia" + "chronic hepatitis" "cefuroxime" "partial deletion of the short arm of chromosome 1" "Anxiety" @@ -7794,8 +7794,8 @@ "epilepsy, juvenile myoclonic, susceptibility to, 6" "arthrogryposis-like syndrome" "level of NF-kappa-B inhibitor beta in blood serum" - "cerebral cortex volume measurement"@en "protein FAM221B" + "cerebral cortex volume measurement"@en "infancy electroclinical syndrome" "urea transporter 2" "LHCN-M2" @@ -7831,8 +7831,8 @@ "Megaloblastic anemia" "zinc finger protein 580" "classic pantothenate kinase-associated neurodegeneration" - "Laryngeal Adenoid Cystic Carcinoma" "basophil progenitor cell" + "Laryngeal Adenoid Cystic Carcinoma" "integrin-linked kinase-associated serine/threonine phosphatase 2C" "DMS79" "carboxypeptidase B2 measurement" @@ -7850,8 +7850,8 @@ "dodecanedioic acid" "neoplasm of neck" "asparaginase activity measurement" - "ileal neoplasm" "congenital bile acid synthesis defect 2" + "ileal neoplasm" "Delayed fine motor development" "extragonadal germinoma" "obsolete microblepharon-ablephara syndrome" @@ -7906,8 +7906,8 @@ "level of Phosphatidylinositol (18:0_20:4) in blood serum" "trombiculiasis" "SUDHL1" - "level of thymocyte nuclear protein 1 in blood serum" "radical prostatectomy"@en + "level of thymocyte nuclear protein 1 in blood serum" "type 2 collagenopathy" "SAPHO syndrome" "spondyloepiphyseal dysplasia congenita" @@ -7945,8 +7945,8 @@ "ETS homologous factor" "orofacial cleft 5" "CD8-positive, CD25-positive, alpha-beta regulatory T cell" - "optic nerve disorder" "obsolete_severe early-childhood-onset retinal dystrophy" + "optic nerve disorder" "childhood gonadal germ cell tumor" "SET-binding protein" "postburn hypertrophic scarring severity measurement" @@ -8099,8 +8099,8 @@ "Theiler stage 18" "obsolete_cryptogenic late-onset epileptic spasms" "eicosenoyl sphingomyelin measurement" - "Premature eruption of permanent teeth" "2-stearoyl-GPE (18:0) measurement" + "Premature eruption of permanent teeth" "combined carcinoid and adenocarcinoma" "kynureninase measurement" "3-hydroxysebacate" @@ -8126,8 +8126,8 @@ "upper lobe of left lung" "obsolete_rostral blood island" "ectocervix" - "MANSC domain-containing protein 1 measurement" "obsolete_anlage" + "MANSC domain-containing protein 1 measurement" "follow-up" "Abnormal semicircular canal morphology" "necatoriasis" @@ -8156,10 +8156,10 @@ "Streptococcus mutans" "citrus intake measurement"@en "Antimigraine preparation use measurement" + "neuralgia" "urinary albumin to creatinine ratio" "islet amyloid polypeptide" "thyroid gland oncocytic adenoma" - "neuralgia" "global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome" "mature B cell" "obsolete endometrial hyperplasia" @@ -8236,8 +8236,8 @@ "45,X/46,XY mixed gonadal dysgenesis" "Methanobacteria" "fatty acid-binding protein, epidermal measurement" - "3P-Seq" "3q27.3 microdeletion syndrome" + "3P-Seq" "B10.NOD_H2g7_Idd3" "pelvic varices" "level of EH domain-containing protein 1 in blood serum" @@ -8324,8 +8324,8 @@ "obsolete_torus semicircularis" "C38:7 phosphatidylcholine plasmalogen measurement" "progesterone receptor status" - "gastrula 75%-epiboly" "ciliary dyskinesia, primary, 40" + "gastrula 75%-epiboly" "SLAM family member 8" "blood vessel" "plasma fibronectin deficiency" @@ -8392,8 +8392,8 @@ "fever of unknown origin" "obsolete_intermediate nemaline myopathy" "Lymphoplasmacyte-Rich Meningioma" - "TNF receptor-associated factor 4 measurement" "Abnormality of body weight" + "TNF receptor-associated factor 4 measurement" "level of CDGSH iron-sulfur domain-containing protein 2 in blood serum" "Spinal instability" "angiotensin converting enzyme activity measurement" @@ -8464,9 +8464,9 @@ "obsolete_lipomyelomeningocele" "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor" "CB1370" - "46,XY gonadal dysgenesis - motor and sensory neuropathy" "early-onset nuclear cataract" "human granulocytic anaplasmosis" + "46,XY gonadal dysgenesis - motor and sensory neuropathy" "genotyping by array" "phacogenic glaucoma" "sodium-independent sulfate anion transporter" @@ -8487,8 +8487,8 @@ "T4b tumor stage" "lethal occipital encephalocele-skeletal dysplasia syndrome" "obsolete_narcolepsy with cataplexy" - "Bromus inermis" "Xeroderma pigmentosum complementation group A" + "Bromus inermis" "L-Asparagine anhydrous measurement" "obsolete_methylmalonic acidemia with homocystinuria, type cblX" "immunoglobulin complex" @@ -8501,12 +8501,12 @@ "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" "obsolete interaction with host via secreted substance" "childhood electroclinical syndrome" + "obsolete_partial deletion of the short arm of chromosome 2" "sperm-associated antigen 11B" "obsolete Heimler syndrome" - "obsolete_partial deletion of the short arm of chromosome 2" + "RNA-Seq" "OCI-LY3" "ABCA4-related retinopathy" - "RNA-Seq" "hereditary hypophosphatemic rickets with hypercalciuria" "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2" "astrocytoma" @@ -8644,8 +8644,8 @@ "Synechococcus elongatus" "obsolete_alopecia totalis" "syngnathia-cleft palate syndrome" - "enhancer of filamentation 1" "Rare hyperopia and astigmatism" + "enhancer of filamentation 1" "phytanoyl-CoA dioxygenase domain-containing protein 1" "small EDRK-rich factor 1 measurement" "cotranscriptional regulator ARB2A" @@ -8670,11 +8670,11 @@ "EH" "peripheral nerve lesion" "nuclear RNA export factor 1" + "GM19043" "ketamine" "metastasis from malignant tumor of colon" "chorioamnionitis" "GM07348" - "GM19043" "obsolete disorder of lipid absorption and transport" "congenital stromal corneal dystrophy" "oculoauriculovertebral spectrum with radial defects" @@ -8705,8 +8705,8 @@ "N'Dama" "Atelis syndrome" "beta-lactam" - "gentisate measurement" "obsolete_dyskeratosis congenita" + "gentisate measurement" "Limb muscle weakness" "linoleate 18:2n6-to-X-12442-5,8-tetradecadienoate ratio"@en "46,XX disorder of sex development-anorectal anomalies syndrome" @@ -8744,8 +8744,8 @@ "Ichthyosis - hepatosplenomegaly - cerebellar degeneration" "leukocyte adhesion deficiency 3" "ribonucleoside-diphosphate reductase subunit M2 B" - "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome" "streptococcus pneumoniae discitis" + "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome" "urothelial papilloma" "DNA-binding protein RFX5" "RECON progeroid syndrome" @@ -8770,12 +8770,12 @@ "level of arylsulfatase K in blood serum" "level of Phosphatidylinositol (18:1_18:1) in blood serum" "tropical spastic paraparesis" - "obsolete_congenital contractural arachnodactyly" "level of progonadoliberin-2 in blood serum" - "level of tether containing UBX domain for GLUT4 in blood serum" + "obsolete_congenital contractural arachnodactyly" "prominin-1" - "level of transcription cofactor vestigial-like protein 4 in blood serum" + "level of tether containing UBX domain for GLUT4 in blood serum" "level of nucleolysin TIAR in blood serum" + "level of transcription cofactor vestigial-like protein 4 in blood serum" "cornea squamous cell carcinoma" "Theiler stage 19" "level of sulfotransferase 4A1 in blood serum" @@ -8789,14 +8789,14 @@ "anatomy basic component" "obsolete_Dorfman-Chanarin disease" "autosomal recessive osteopetrosis 7" + "ER membrane protein complex subunit 1 measurement" + "PAXC002"@en "HCjE" "SW684" - "ER membrane protein complex subunit 1 measurement" "intellectual disability, autosomal dominant 13" "early endosome antigen 1" "ornithine translocase deficiency" "Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell" - "PAXC002"@en "Foster-Kennedy syndrome" "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase" "toll/interleukin-1 receptor domain-containing adapter protein measurement" @@ -8826,17 +8826,17 @@ "sporadic amyotrophic lateral sclerosis" "N-acetyl-2-aminooctanoate measurement" "ureter benign neoplasm" - "obsolete_LAMB2-related infantile-onset nephrotic syndrome" "infective vaginitis" "carcinoma ex pleomorphic adenoma" "CL1-0 cell" "retinal cell" + "obsolete_LAMB2-related infantile-onset nephrotic syndrome" "obsolete_hypothyroidism due to deficient transcription factors involved in pituitary development or function" - "stearoyl-arachidonoyl-glycerophosphoinositol (1) measurement" "Camptodactyly" "right aortic arch" "ichthyosiform erythroderma, corneal involvement, and hearing loss" "protein FAM162B" + "stearoyl-arachidonoyl-glycerophosphoinositol (1) measurement" "receptor-interacting serine/threonine-protein kinase 2 measurement" "transaldolase deficiency" "obsolete_PEHO syndrome" @@ -8852,8 +8852,8 @@ "exosome complex component RRP43" "level of acidic fibroblast growth factor intracellular-binding protein in blood serum" "rectocele" - "amelogenesis imperfecta type 1" "skeletal age"@en + "amelogenesis imperfecta type 1" "frontotemporal dementia with motor neuron disease" "female organism" "hypaphorine" @@ -8924,9 +8924,9 @@ "fatty acid-binding protein, heart measurement" "transmembrane gamma-carboxyglutamic acid protein 4 measurement" "embryonic stage 14" - "obsolete synaptic congenital myasthenic syndrome" "Toscana virus" "tetrasomy 21" + "obsolete synaptic congenital myasthenic syndrome" "Ogden syndrome" "keratin, type I cytoskeletal 16" "Coffea arabica" @@ -8940,10 +8940,10 @@ "anti-hepatitis E virus antibody measurement" "obsolete MSH3-related attenuated familial adenomatous polyposis" "transcription factor HES-5" + "Abnormal circulating serine family amino acid concentration" "level of NudC domain-containing protein 2 in blood serum" "level of 40S ribosomal protein S19 in blood serum" "dystroglycan 1" - "Abnormal circulating serine family amino acid concentration" "neoplasm of endocardium" "myelinating Schwann cell" "chloride intracellular channel protein 1 measurement" @@ -8972,8 +8972,8 @@ "aleurone layer" "level of Sterol ester (27:1/16:1) in blood serum" "Oscheius tipulae" - "obsolete_Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type" "snowflake vitreoretinal degeneration" + "obsolete_Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type" "Ataxia - oculomotor apraxia type 1" "n-acetylglutamate synthase, mitochondrial measurement" "JT709" @@ -9052,8 +9052,8 @@ "obsolete_upper thoracic spina bifida aperta" "level of unique cartilage matrix-associated protein in blood serum" "obsolete_congenital myopathy with internal nuclei and atypical cores" - "X-11497 measurement" "obsolete_aortic arch" + "X-11497 measurement" "obsolete_aromatase deficiency" "white matter integrity" "Lactobacillus sanfranciscensis" @@ -9107,8 +9107,8 @@ "partial duplication of the short arm of chromosome 19" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" "RNA binding protein fox-1 homolog 1" - "response to ximelagatran" "obsolete_odonto-onycho-dermal dysplasia" + "response to ximelagatran" "hemangioma of gingiva" "synpolydactyly type 1" "X-linked diffuse leiomyomatosis - Alport syndrome" @@ -9171,12 +9171,12 @@ "Hereditary cerebral hemorrhage with amyloidosis, Italian type" "Pili torti - developmental delay - neurological abnormalities" "C-C motif chemokine 22 measurement" - "Cercocebus atys" "3-methyladipic acid measurement"@en + "Cercocebus atys" "Immature Plasma Cell Count" + "Felty's syndrome" "WIDR" "Kohlschutter-Tonz syndrome-like" - "Felty's syndrome" "tyrosinemia type II" "chronic conjunctivitis" "toxic or drug-related embryofetopathy" @@ -9317,8 +9317,8 @@ "cortical blindness-intellectual disability-polydactyly syndrome" "level of G0/G1 switch protein 2 in blood serum" "obsolete_isolated cryptophthalmia" - "ScaleBio single cell RNA sequencing"@en "bursitis" + "ScaleBio single cell RNA sequencing"@en "promyelocyte" "Neuronal intestinal pseudoobstruction" "receptor-type tyrosine-protein kinase flt3 measurement" @@ -9498,8 +9498,8 @@ "phosphatidylcholine diacyl C40:6 measurement" "catechol sulfate measurement" "post-traumatic stress disorder" - "obsolete_congenital muscular dystrophy with cerebellar involvement" "level of arsenite methyltransferase in blood serum" + "obsolete_congenital muscular dystrophy with cerebellar involvement" "obsolete_Beckwith-Wiedemann syndrome" "level of golgin subfamily A member 7 in blood serum" "eye-antennal disc" @@ -9517,10 +9517,10 @@ "duodenal neuroendocrine neoplasm" "obsolete_syndromic hyperopia" "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" - "obsolete_alpha-mannosidosis" "anterior segment dysgenesis 7" "chromosome 17q23.1-q23.2 deletion syndrome" "mannose" + "obsolete_alpha-mannosidosis" "Bacteroides thetaiotaomicron VPI-5482" "obsolete_animal component" "obsolete_neutral lipid storage myopathy" @@ -9578,8 +9578,8 @@ "nuclear envelope phosphatase-regulatory subunit 1" "Humero-radial synostosis" "milliliter per liter" - "Malignant Germ Cell Tumor" "midline glial cell" + "Malignant Germ Cell Tumor" "fas apoptotic inhibitory molecule 3 measurement" "glycogen storage disease XV" "lysophosphatidylcholine 16:0 measurement"@en @@ -9604,9 +9604,9 @@ "anaplastic large cell lymphoma" "exercise-induced hyperinsulinism" "cartilage acidic protein 1" - "embryonic stage 15" "mosaic trisomy 4" "level of serine/threonine-protein kinase PAK 5 in blood serum" + "embryonic stage 15" "level of protein HID1 in blood serum" "interleukin-7 receptor subunit alpha measurement" "Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells" @@ -9640,8 +9640,8 @@ "Mowat-Wilson syndrome due to monosomy 2q22" "sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0) measurement" "Spinal Cord Ischemia" - "adrenal medulla chromaffin cell" "fibrinogen gamma chain measurement" + "adrenal medulla chromaffin cell" "transmembrane protease serine 11A measurement" "keratin, type I cytoskeletal 17" "Male infertility due to sperm disorder" @@ -9670,8 +9670,8 @@ "disintegrin and metalloproteinase domain-containing protein 29 measurement" "L-Leucine measurement" "advanced glycosylation end product-specific receptor ligand measurement" - "Ovalocyte Count" "splenic manifestation of prolymphocytic leukemia" + "Ovalocyte Count" "homogentisic acid" "Stevens-Johnson syndrome" "Hypoalbuminemia" @@ -9711,8 +9711,8 @@ "obsolete_16p11.2p12.2 microduplication syndrome" "smooth surface dental caries" "level of polyunsaturated fatty acid lipoxygenase ALOX15B in blood serum" - "sepal" "obsolete_hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency" + "sepal" "hereditary spastic paraplegia 23" "vitamin D dietary intake measurement" "obsolete_caudal fin" @@ -9745,8 +9745,8 @@ "nasal cavity" "Apis dorsata" "calcyclin-binding protein" - "endosome/lysosome-associated apoptosis and autophagy regulator family member 2" "obsolete_autosomal recessive congenital ichthyosis" + "endosome/lysosome-associated apoptosis and autophagy regulator family member 2" "Amblyopia" "obsolete_hereditary mucoepithelial dysplasia" "obsolete_amelia of upper limb" @@ -9796,8 +9796,8 @@ "ubiquitin-fold modifier-conjugating enzyme 1 measurement" "congenital primary megaureter, obstructed form" "syndactyly type 3" - "level of protein lin-28 homolog B in blood serum" "glycochenodeoxycholate" + "level of protein lin-28 homolog B in blood serum" "level of EH domain-containing protein 3 in blood serum" "kidney injury" "obsolete_autosomal dominant brachyolmia" @@ -9807,8 +9807,8 @@ "ski-like protein measurement" "X-12906 measurement" "Wiskott-Aldrich syndrome" - "obsolete_pulmonary sclerosing hemangioma" "level of Diacylglycerol (16:1_18:1) in blood serum" + "obsolete_pulmonary sclerosing hemangioma" "C-C motif chemokine 24 measurement" "facial morphology measurement" "C1GALT1-specific chaperone 1" @@ -9927,15 +9927,15 @@ "hippocampal neuron" "obsolete_congenital non-communicating hydrocephalus" "obsolete_symptomatic form of hemophilia B in female carriers" - "Major Salivary Gland Carcinoma" "obsolete Toe walking" + "Major Salivary Gland Carcinoma" "obsolete_isolated ankyloblepharon filiforme adnatum" "pyridoxal kinase measurement" "2-deoxy-D-glucose" "fasting blood glucose measurement" "LIG4 syndrome" - "obsolete_collective leaf structure" "reticulon-4 measurement" + "obsolete_collective leaf structure" "aorta angiosarcoma" "collagen alpha-2(XI) chain" "Carica papaya" @@ -9968,8 +9968,8 @@ "HEK-293-EBNA"@en "CD72 molecule" "periarthritis" - "chromosome 15q13.3 microdeletion syndrome" "transforming protein RhoA measurement" + "chromosome 15q13.3 microdeletion syndrome" "obsolete_familial mesial temporal lobe epilepsy with febrile seizures" "obsolete_familial bicuspid aortic valve" "inflammatory breast carcinoma" @@ -10023,9 +10023,9 @@ "ovarian mucinous neoplasm" "Fc receptor-like protein 6" "E3 ubiquitin-protein ligase RNF34 measurement" - "X-16938 measurement" "pseudorabies" "DNA dC->dU-editing enzyme APOBEC-3G" + "X-16938 measurement" "8-(3-chlorostyryl)caffeine" "adipose tissue derived mesenchymal stem cell" "respiratory gaseous exchange by respiratory system" @@ -10042,8 +10042,8 @@ "X-linked dominant intellectual disability-epilepsy syndrome" "obsolete_gene" "lobular breast carcinoma" - "glycylpeptide n-tetradecanoyltransferase 1 measurement" "tibial hemimelia, unilateral" + "glycylpeptide n-tetradecanoyltransferase 1 measurement" "pulmonary artery-aorta diameter ratio measurement" "lissencephaly type 3-familial fetal akinesia sequence syndrome" "peak insulin response measurement" @@ -10106,8 +10106,8 @@ "obsolete_SELEX" "Butyrivibrio proteoclasticus B316" "level of leukocyte immunoglobulin-like receptor subfamily A member 5 in blood serum" - "ossification anomalies-psychomotor developmental delay syndrome" "acylphosphatase-2 measurement" + "ossification anomalies-psychomotor developmental delay syndrome" "nanomole" "level of calcium and integrin-binding protein 1 in blood serum" "level of cullin-associated NEDD8-dissociated protein 1 in blood serum" @@ -10154,10 +10154,10 @@ "cadherin-4" "obsolete_hereditary stomatocytosis" "isoleucine measurement" + "protein s100-a9 measurement" "level of Golgi membrane protein 1 in blood serum" "Fc receptor-like B" "benign meningioma" - "protein s100-a9 measurement" "level of von Hippel-Lindau-like protein in blood serum" "level of Rho guanine nucleotide exchange factor TIAM2 in blood serum" "zinc finger protein 696" @@ -10285,11 +10285,11 @@ "buttock" "Escherichia coli B" "arteriosclerosis disorder" - "mosaic trisomy 5" "embryonic stage 16" + "mosaic trisomy 5" "cystadenofibroma" - "obsolete_qualitative or quantitative defects of integrin alpha-7" "cytarabine" + "obsolete_qualitative or quantitative defects of integrin alpha-7" "junctional adhesion molecule B measurement" "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias" "phospholipids in IDL measurement" @@ -10333,8 +10333,8 @@ "benign infantile focal epilepsy with midline spikes and wave during sleep" "femur-fibula-ulna complex" "N-methylformamide" - "fungal component" "Desminopathy" + "fungal component" "Autosomal dominant spastic paraplegia type 10" "DNA-binding protein inhibitor ID-2" "obsolete_X-linked intellectual disability, Kroes type" @@ -10347,9 +10347,9 @@ "obsolete_congenital tracheal stenosis" "decubitus ulcer" "obsolete_hereditary glaucoma" + "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" "corpus callosum agenesis-abnormal genitalia syndrome" "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome" - "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" "Ebola hemorrhagic fever" "tanespimycin" "obsolete_posterior lateral mesoderm" @@ -10425,8 +10425,8 @@ "EC 2.7.11.13 (protein kinase C) inhibitor" "p-cresol sulfate measurement" "obsolete_hemophilia B" - "CD38-positive IgG-negative class switched memory B cell" "valine-to-isovalerylcarnitine ratio" + "CD38-positive IgG-negative class switched memory B cell" "obsolete_corneal stroma" "DN3 thymocyte" "sexual dysfunction" @@ -10580,8 +10580,8 @@ "level of ferritin heavy chain in blood serum" "neuronal pentraxin-1" "F-actin-capping protein subunit beta" - "TSA-seq" "hepatocyte nuclear factor 4-alpha measurement" + "TSA-seq" "suntan" "killer cell immunoglobulin-like receptor 3DL2 measurement" "human african trypanosomiasis" @@ -10656,8 +10656,8 @@ "level of calsequestrin-1 in blood serum" "coxopodopatellar syndrome" "phosphatidylcholine acyl-alkyl C44:6 measurement" - "atypical coarctation of aorta" "noninfective encephalitis"@en + "atypical coarctation of aorta" "innate immune response" "trait in response to cytarabine" "Rubinstein-Taybi syndrome" @@ -10668,12 +10668,12 @@ "obsolete_benign Samaritan congenital myopathy" "pharyngeal squamous cell carcinoma" "level of endophilin-B1 in blood serum" - "X-linked intellectual disability - cardiomegaly - congestive heart failure" "monoblast" - "perinatal jaundice due to hepatocellular damage" + "X-linked intellectual disability - cardiomegaly - congestive heart failure" "glypican-2 measurement" "insulin secretion measurement" "Streptococcus sp. 'group A'" + "perinatal jaundice due to hepatocellular damage" "obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome" "short stature, oligodontia, dysmorphic facies, and motor delay" "tyrosinemia type III" @@ -10699,9 +10699,9 @@ "formin-binding protein 1" "Rare otorhinolaryngological malformation" "CRK-like protein measurement" - "sympathetic nervous system disorder" "protocadherin beta-10" "partial deletion of the short arm of chromosome 5" + "sympathetic nervous system disorder" "iPS-20b" "level of NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 in blood serum" "Familial dysautonomia" @@ -10716,17 +10716,17 @@ "level of interleukin-1 alpha in blood serum" "X-16944 measurement" "Spondylocarpotarsal synostosis" - "level of Thr-Phe in blood" "endosialin" + "level of Thr-Phe in blood" "Abnormality of the tonsils" "recessive aplasia cutis congenita of limbs" - "Müllerian aplasia" "E3 ubiquitin-protein ligase LNX" "acute myeloid leukemia, Monosomy 5" + "Müllerian aplasia" "obsolete_hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation" + "Bartter disease type 3" "lysophosphatidylethanolamine 18:0 measurement"@en "level of epididymal secretory protein E3-beta in blood serum" - "Bartter disease type 3" "susceptibility to chickenpox measurement" "sodium channel subunit beta-2 measurement" "obsolete_isobutyryl-CoA dehydrogenase deficiency" @@ -10771,10 +10771,10 @@ "congenital generalized lipodystrophy" "beta-defensin 116" "creatine metabolic process" + "1-nonadecanoyl-GPC (19:0) measurement" "hair follicle dermal papilla cell" "fibroblast growth factor 7 measurement" "gamma-tocopherol" - "1-nonadecanoyl-GPC (19:0) measurement" "PHGDH deficiency" "SW1088" "renal artery disease" @@ -10846,17 +10846,17 @@ "obsolete_Alport syndrome" "chromosome 16 trisomy" "obsolete_autosomal recessive palmoplantar keratoderma and congenital alopecia" - "Submandibular Gland Adenoid Cystic Carcinoma" "retinitis pigmentosa 93" "Brassica rapa" + "Submandibular Gland Adenoid Cystic Carcinoma" "parietal lobe volume measurement" "obsolete_guanidinoacetate methyltransferase deficiency" "ovarian clear cell malignant adenofibroma" "X-25519 measurement" "CS57811" "obsolete_response to losartan" - "Disorder of vitamin and non-protein cofactor absorption and transport " "Kit-positive megakaryocyte progenitor cell" + "Disorder of vitamin and non-protein cofactor absorption and transport " "Eye Burns" "vesicle transport through interaction with t-SNAREs homolog 1A measurement" "level of proteasome subunit alpha type-3 in blood serum" @@ -10873,8 +10873,8 @@ "lacrimal gland adenocarcinoma" "putative uncharacterized protein TXNRD3NB" "benign neoplasm of heart" - "episodic ataxia type 2" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2I" + "episodic ataxia type 2" "obsolete_Monosomy 13q14" "fetal genotype effect measurement" "acute laryngitis" @@ -10974,12 +10974,12 @@ "level of methyltransferase-like protein 11A in blood serum" "DNA dC->dU-editing enzyme APOBEC-3G measurement" "electroneutral sodium bicarbonate exchanger 1" + "caspase-8 measurement" "level of protein S100-A8 in blood serum" "Precursor Plasma Cell Count" - "caspase-8 measurement" "autosomal recessive severe congenital neutropenia" - "non-infectious anterior uveitis" "Porphyromonas gingivalis" + "non-infectious anterior uveitis" "blistering, acantholytic, of oral and laryngeal mucosa" "phosphatidylcholine diacyl C42:1 measurement" "level of interferon alpha-1/13 in blood serum" @@ -11101,9 +11101,9 @@ "ependymal tumor of spinal cord" "fibroblast growth factor 10 measurement" "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome" - "methenyltetrahydrofolate synthase domain-containing protein" - "MOGS-congenital disorder of glycosylation" "pheochromocytoma-paraganglioma"@en + "MOGS-congenital disorder of glycosylation" + "methenyltetrahydrofolate synthase domain-containing protein" "level of leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 in blood serum" "level of ETS homologous factor in blood serum" "increased respiratory secretion" @@ -11197,8 +11197,8 @@ "N6,N6-dimethyllysine measurement" "obsolete_familial cylindromatosis" "autosomal recessive spastic ataxia" - "Saccharopolyspora erythraea" "HG02798" + "Saccharopolyspora erythraea" "GM5659" "Ulnar/fibula ray defect - brachydactyly" "level of serine/threonine-protein phosphatase 2A regulatory subunit B' in blood serum" @@ -11261,15 +11261,15 @@ "obsolete_hyperkeratosis-hyperpigmentation syndrome" "lethal infantile mitochondrial myopathy" "Lui-Jee-Baron syndrome" - "obsolete_duplication/inversion 15q11" + "geography-based population category"@en "central nervous system development" "octadecanoate" "Drosophila santomea" - "geography-based population category"@en + "Abnormal circulating glucose-6-phosphate dehydrogenase concentration" "Clostridium butyricum" "finishing sequencing assay" "endoplasmin" - "Abnormal circulating glucose-6-phosphate dehydrogenase concentration" + "obsolete_duplication/inversion 15q11" "clinical modifier"@en "GM17800" "plasma clusterin measurement" @@ -11315,21 +11315,21 @@ "Dyschondrosteosis - nephritis" "spondylocostal dysostosis" "Unilateral renal dysplasia" + "early endosome antigen 1 measurement" "chloride intracellular channel protein 5 measurement" "nephrotoxicity" "childhood testicular germ cell tumor" "obsolete_hereditary genetic disorder" "smoking status measurement" - "early endosome antigen 1 measurement" "ATP-binding cassette sub-family F member 3" "urinary tract smooth muscle contraction" "restrictive cardiomyopathy" "obsolete_long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" "syntenin-1" "diquat" + "Developmental delay - deafness, Hildebrand type" "level of calsequestrin-2 in blood serum" "Increased blood urea nitrogen" - "Developmental delay - deafness, Hildebrand type" "acute myeloid leukemia, Trisomy 8" "Unilateral aplasia of the Müllerian ducts" "sphingomyeline C16:0 measurement" @@ -11341,8 +11341,8 @@ "1-carboxyethyltyrosine measurement" "leukoplakia of gingiva" "obsolete_atelosteogenesis type III" - "glypican-3 measurement" "fibular hemimelia, unilateral" + "glypican-3 measurement" "Leukocytosis" "physical activity measurement" "Chlorocebus aethiops" @@ -11365,10 +11365,10 @@ "leucine-rich repeat-containing protein 4C measurement" "malate(2-)" "hypospadias-intellectual disability, Goldblatt type syndrome" - "obsolete_autosomal dominant spastic ataxia" "in situ HiC" - "parathyroid hormone secretion" "heterogeneous nuclear ribonucleoproteins C1/C2 measurement" + "parathyroid hormone secretion" + "obsolete_autosomal dominant spastic ataxia" "obsolete_atrioventricular node" "erythroleukemia cell" "obsolete_palpebral nevus" @@ -11478,8 +11478,8 @@ "BLOC-1-related complex subunit 5" "obsolete_Kleefstra syndrome due to 9q34 microdeletion" "mitochondrial glutamate carrier 2 measurement" - "Herpetic encephalitis" "N(omega),N'(omega)-dimethyl-L-arginine" + "Herpetic encephalitis" "RNA-binding protein FXR1" "level of coenzyme Q-binding protein COQ10 homolog A, mitochondrial in blood serum" "Cardiac shunt" @@ -11563,8 +11563,8 @@ "obsolete_abdominal aorta" "N-formylmethionine measurement" "spastic ataxia 1" - "L-Histidine to Uric acid ratio" "Mv1Lu" + "L-Histidine to Uric acid ratio" "pleomorphic rhabdomyosarcoma" "obsolete_lymphatic system" "obsolete_lethal Kniest-like dysplasia" @@ -11662,8 +11662,8 @@ "neural cell adhesion molecule 1" "vesicle-associated membrane protein 3 measurement" "meningitis caused by poliovirus" - "obsolete_posterior lateral plate mesoderm" "Vigna unguiculata subsp. unguiculata" + "obsolete_posterior lateral plate mesoderm" "level of X antigen family member 2 in blood serum" "Hydroureter" "gallbladder lymphoma" @@ -11687,10 +11687,10 @@ "Appendicular hypotonia" "myelin sheath" "MOLT-4" + "cytochrome c oxidase assembly factor 3 homolog, mitochondrial measurement" "NCI-H747" "X-linked calvarial hyperostosis" "left ventricular systolic function measurement" - "cytochrome c oxidase assembly factor 3 homolog, mitochondrial measurement" "digestive system neuroendocrine neoplasm" "acyl-CoA-binding domain-containing protein 7" "obsolete_permanent congenital hypothyroidism" @@ -11711,8 +11711,8 @@ "Fc receptor-like protein 5 measurement" "norrin" "intellectual disability-brachydactyly-Pierre Robin syndrome" - "obsolete_Bencze syndrome" "obsolete_Denys-Drash syndrome" + "obsolete_Bencze syndrome" "integrator complex subunit 3" "Porphyria variegata" "mesoaxial synostotic syndactyly with phalangeal reduction" @@ -11794,10 +11794,10 @@ "kernicterus due to isoimmunization" "Thr-Phe" "obsolete_X-linked complicated spastic paraplegia type 1" + "DNA excision repair protein ERCC-1 measurement" "autoantibody measurement" "exocrine pancreatic insufficiency" "memory" - "DNA excision repair protein ERCC-1 measurement" "keratosis follicularis-dwarfism-cerebral atrophy syndrome" "alcohol-induced mental disorder" "lipoma of the rectum" @@ -11815,15 +11815,15 @@ "level of endothelial lipase in blood serum" "level of EP300-interacting inhibitor of differentiation 3 in blood serum" "laryngotracheoesophageal cleft" - "obsolete_partial deletion of chromosome 5" "bronchoconstriction" + "obsolete_partial deletion of chromosome 5" "level of Sterol ester (27:1/18:2) in blood serum" "anonychia-onychodystrophy syndrome" "photosensitive epilepsy" "von Hippel-Lindau disease" "proximal pulmonary artery diameter measurement"@en - "methylmalonic aciduria, cblA type" "cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1" + "methylmalonic aciduria, cblA type" "Low-set ears" "X-13507 measurement" "nephrocalcinosis" @@ -11866,9 +11866,9 @@ "Anomalous pulmonary venous return" "hereditary neuromuscular disease" "N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming" - "1,2-dibromoethane" "level of serum paraoxonase/arylesterase 1 in blood serum" "level of phosphatidylcholine-sterol acyltransferase in blood serum" + "1,2-dibromoethane" "reproductive system cancer" "obsolete_McKusick-Kaufman syndrome" "Jackson-Weiss syndrome" @@ -11912,8 +11912,8 @@ "oxoglutarate measurement" "soluble gp130 measurement"@en "catecholaminergic polymorphic ventricular tachycardia 4" - "GM07056" "peanut allergy measurement" + "GM07056" "patellar tendinitis" "Scleroderma" "SLBS" @@ -11935,9 +11935,9 @@ "obsolete_induced pluripotent stem cell" "obsolete_thyrotoxic periodic paralysis" "X-linked recessive mitochondrial myopathy" - "Inherited giant platelet disorder" "heterogeneous nuclear ribonucleoprotein M measurement" "tacrolimus measurement" + "Inherited giant platelet disorder" "autonomic nervous system disease" "obsolete_cervix" "obsolete_mosaic trisomy 10" @@ -11945,8 +11945,8 @@ "guttate psoriasis" "CTS (Concatenated Tag Sequencing)" "Anemia due to adenosine triphosphatase deficiency" - "cerebrospinal fluid clusterin measurement" "GM17801" + "cerebrospinal fluid clusterin measurement" "level of high mobility group protein B3 in blood serum" "phosphatidylcholine O-44:4" "anterior horn disorder" @@ -11991,16 +11991,16 @@ "mCT-seq" "transmembrane gamma-carboxyglutamic acid protein 1 measurement" "Rho guanine nucleotide exchange factor 1" + "Microblepharon - ablephara" "23132/87" "isolated congenital hypogonadotropic hypogonadism" - "Microblepharon - ablephara" "long term hematopoietic stem cell" "ACHN" - "obsolete_multiple epiphyseal dysplasia type 4" - "obsolete_Seckel syndrome" "sphingomyeline C16:1 measurement" "mitochondrial complex III deficiency" + "obsolete_multiple epiphyseal dysplasia type 4" "occular toxicity"@en + "obsolete_Seckel syndrome" "obsolete_split hand, unilateral" "obsolete_maternally-inherited mitochondrial dystonia" "Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay" @@ -12016,8 +12016,8 @@ "hair defect with photosensitivity and intellectual disability syndrome" "congenital hereditary facial paralysis-variable hearing loss syndrome" "lip disorder" - "obsolete_coloboma of choroid and retina" "histone H1.10" + "obsolete_coloboma of choroid and retina" "Abnormal morphology of left ventricular trabeculae" "level of glucose-induced degradation protein 8 homolog in blood serum" "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" @@ -12074,12 +12074,12 @@ "ubiquitin carboxyl-terminal hydrolase 4" "obsolete_partial duplication of the long arm of chromosome 14" "obsolete_brachydactyly type A4" - "N-methylpipecolate measurement" "Illumina native qseq format" "level of protein FAM221A in blood serum" - "probable RNA-binding protein 46" + "N-methylpipecolate measurement" "GM17797" "software variation design" + "probable RNA-binding protein 46" "glutaminyl-peptide cyclotransferase" "RERF-LC-MS" "Pinus strobus" @@ -12093,8 +12093,8 @@ "combined oxidative phosphorylation deficiency 48" "viral conjunctivitis" "tracheitis" - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" "polyp of middle ear" + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" "positive regulation of gastric acid secretion" "level of pancreatic lipase-related protein 2 in blood serum" "carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1" @@ -12258,7 +12258,6 @@ "adolescent/adult-onset epilepsy syndrome" "Primary amenorrhea" "Avulavirus infectious disease" - "Recurrent infections-myelofibrosis-nephromegaly syndrome" "obsolete_congenital absence of both forearm and hand" "X-linked intellectual disability - epilepsy" "TBY-2" @@ -12267,6 +12266,7 @@ "Hyperkeratosis" "Blepharophimosis-intellectual disability syndrome, Verloes type" "Aneurysm, False" + "Recurrent infections-myelofibrosis-nephromegaly syndrome" "obsolete_orofaciodigital syndrome type 12" "level of transcription factor MafG in blood serum" "level of ephrin type-A receptor 8 in blood serum" @@ -12277,9 +12277,9 @@ "uncharacterized protein C19orf84" "small nuclear ribonucleoprotein Sm D2" "myelin regulatory factor measurement" + "LM-Seq" "haemopoietic system cell line" "beta-defensin 119" - "LM-Seq" "regulation of cell adhesion" "Vitis vinifera" "fibroblast growth factor 8 isoform b measurement" @@ -12382,9 +12382,9 @@ "voltage-dependent L-type calcium channel subunit beta-3" "mitogen-activated protein kinase 11 measurement" "prostate neuroendocrine neoplasm" + "hereditary lethal multiple congenital anomalies/dysmorphic syndrome" "salicylic acid" "ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome" - "hereditary lethal multiple congenital anomalies/dysmorphic syndrome" "10x 3' v4"@en "benign neoplasm of cornea" "dilated cardiomyopathy 3B" @@ -12459,10 +12459,10 @@ "Skin rash" "blepharophimosis-epicanthus inversus-ptosis due to copy number variations" "obsolete_Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency" + "obsolete_Infantile neuroaxonal dystrophy" "fibroblast growth factor 16 measurement" "X-21467 measurement"@en "level of Bcl-2-modifying factor in blood serum" - "obsolete_Infantile neuroaxonal dystrophy" "blood N-acetylproline measurement" "Genetic syndrome with a Dandy-Walker malformation as major feature" "Quant-seq" @@ -12478,8 +12478,8 @@ "X-12680 measurement" "juvenile cataract-microcornea-renal glucosuria syndrome" "guard cell" - "WHCO6"@en "glucocorticoid therapy, response to" + "WHCO6"@en "respiratory disease biomarker" "BTB/POZ domain-containing protein KCTD15" "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial" @@ -12492,12 +12492,12 @@ "Abnormal ciliary motility" "aortic valve disease" "Craniosynostosis - fibular aplasia" - "hydroxytetradecenoylcarnitine measurement" "Kimura disease" + "hydroxytetradecenoylcarnitine measurement" "cholesteryl ester 24:5 measurement" + "growth arrest-specific protein 1 measurement" "colchicine" "HIV-1 infection" - "growth arrest-specific protein 1 measurement" "level of N6-adenosine-methyltransferase catalytic subunit in blood serum" "geleophysic dysplasia" "DNA polymerase eta measurement" @@ -12507,9 +12507,9 @@ "colorectal lipoma" "Triphalangeal thumbs - brachyectrodactyly" "CCL20 measurement" - "hypopharynx anlage in statu nascendi" "autosomal recessive limb-girdle muscular dystrophy type 2Q" "level of potassium channel regulatory protein in blood serum" + "hypopharynx anlage in statu nascendi" "serine palmitoyltransferase 1" "Acanthopleura" "level of lithostathine-1-alpha in blood serum" @@ -12607,8 +12607,8 @@ "obsolete aortic malformation" "obsolete_Activated PIK3-delta syndrome" "cleavage 32-cell" - "Caliciviridae infectious disease" "lormetazepam measurement" + "Caliciviridae infectious disease" "peroxisome biogenesis disorder 14B" "leucine-rich repeat-containing protein 59" "GM07345" @@ -12688,8 +12688,8 @@ "obsolete_coloboma of eye lens" "acromesomelic dysplasia 3" "AA amyloidosis" - "serine protease inhibitor Kazal-type 13 measurement" "PEO6" + "serine protease inhibitor Kazal-type 13 measurement" "UMI Method" "facioscapulohumeral muscular dystrophy 4, digenic" "spondylocostal dysostosis-hypospadias-intellectual disability syndrome" @@ -12697,13 +12697,13 @@ "psychomotor performance" "hearing loss, autosomal dominant 83" "obsolete_oropharynx" - "1-palmitoylglycerophosphoinositol measurement" "petaloid toenail" + "1-palmitoylglycerophosphoinositol measurement" "integumentary system disease"@en - "Nanogrid RNA-Seq" "Ras-related protein Rab-5C" "obsolete Sparse and thin eyebrow" "normal cell line" + "Nanogrid RNA-Seq" "fluoranthene" "Testicular Germ Cell Tumor" "CFPAC-1" @@ -12783,8 +12783,8 @@ "erythrocyte disorder" "obsolete_Lynch syndrome" "baicalin" - "protein APCDD1 measurement" "optic disc area measurement" + "protein APCDD1 measurement" "dilated cardiomyopathy 1BB" "isolated Klippel-Feil syndrome" "level of integral membrane protein DGCR2/IDD in blood serum" @@ -12934,11 +12934,11 @@ "obsolete_stigma" "obsolete autosomal dominant hereditary sensory and autonomic neuropathy" "1-palmitoyl-2-eicosapentaenoyl-GPE (16:0/20:5) measurement" - "synaptosomal-associated protein 25 measurement" "pyruvate kinase PKLR" + "synaptosomal-associated protein 25 measurement" "level of adhesion G protein-coupled receptor B1 in blood serum" - "macrodactyly of fingers, bilateral" "odonto-onycho-dermal dysplasia" + "macrodactyly of fingers, bilateral" "N-acetylaspartic acid measurement" "level of E3 ubiquitin-protein ligase TRIM21 in blood serum" "N-acetylmuramoyl-L-alanine amidase" @@ -12982,11 +12982,11 @@ "nutritional biotin deficiency" "disorder of defective peroxisomal and mitochondrial fission" "DDX41-related hematologic malignancy predisposition syndrome" + "obsolete_corticobasal degeneration" "chikungunya virus seropositivity" "Branchio-skeleto-genital syndrome" - "obsolete_corticobasal degeneration" - "trafficking protein particle complex subunit 4" "BOR syndrome" + "trafficking protein particle complex subunit 4" "perphenazine maleate measurement" "chondrosarcoma-associated gene 1 protein" "babesiosis" @@ -13020,17 +13020,17 @@ "glycosyltransferase 8 domain-containing protein 1" "Thermotoga maritima" "Aniridia - cerebellar ataxia - intellectual disability" - "Myasthenic syndrome with eye involvement" "pterygium colli-intellectual disability-digital anomalies syndrome" + "Myasthenic syndrome with eye involvement" "lymph node adenoid cystic carcinoma" "level of acyl-coenzyme A thioesterase 8 in blood serum" "Rare constitutional hemolytic anemia due to an enzyme disorder" "rectum" - "Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes" "Illumina HiSeq 1000" - "photoreceptor cell layer thickness measurement" + "Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes" "obsolete_cranial ganglion" "Mumps virus infectious disease" + "photoreceptor cell layer thickness measurement" "phosphatidylcholine 38:2" "vitreous disorder" "level of sulfite oxidase, mitochondrial in blood serum" @@ -13066,15 +13066,15 @@ "Colonic diverticula" "mixed germ cell-sex cord-stromal tumor" "level of nociceptin in blood serum" - "Mesomelic dwarfism - cleft palate - camptodactyly" "Elevated circulating hepatic transaminase concentration" + "Mesomelic dwarfism - cleft palate - camptodactyly" "obsolete_CEMC1" "benign neoplasm of retina" "NCI-H810" - "obsolete_posterior corneal dystrophy" "leukocyte immunoglobulin-like receptor subfamily B member 1 measurement" "obsolete_congenital enterocyte heparan sulfate deficiency" "5'-nucleotidase measurement" + "obsolete_posterior corneal dystrophy" "dorsal longitudinal anastomotic vessel" "obsolete congenital trochlear nerve palsy" "N,N-dimethylalanine measurement" @@ -13093,8 +13093,8 @@ "sotalol" "level of nuclear factor of activated T-cells, cytoplasmic 4 in blood serum" "level of proteasome subunit alpha type-7 in blood serum" - "response to biological dust exposure" "fetal and adult testis-expressed transcript protein measurement" + "response to biological dust exposure" "anophthalmia-microphthalmia syndrome" "calcium-binding and coiled-coil domain-containing protein 2" "5-oxoproline measurement" @@ -13147,8 +13147,8 @@ "C-type lectin domain family 10 member A" "Pruritus" "eukaryotic translation initiation factor 4E type 2" - "Tetralogy of Fallot with absent pulmonary valve" "Bm5 B cell" + "Tetralogy of Fallot with absent pulmonary valve" "level of putative protein-lysine deacylase ABHD14B in blood serum" "SCOPE-chip" "biphasic synovial sarcoma" @@ -13157,9 +13157,9 @@ "cot filtration for moderately repetitive genomic DNA" "intrahepatic cholestasis" "obsolete_thoracolaryngopelvic dysplasia" - "diffusing capacity of the lung for carbon monoxide" "obsolete_presumptive ectoderm" "obsolete_H322T" + "diffusing capacity of the lung for carbon monoxide" "chronic fatigue syndrome" "obsolete_duplication of the pituitary gland" "pemphigus vegetans" @@ -13185,8 +13185,8 @@ "level of gastric inhibitory polypeptide in blood serum" "volumetric brain MRI" "DNA polymerase iota measurement" - "intracranial hemangioma" "level of procollagen C-endopeptidase enhancer 2 in blood serum" + "intracranial hemangioma" "mucinous cystadenofibroma" "protein max" "obsolete_dorsal metathoracic disc" @@ -13222,9 +13222,9 @@ "interleukin-17 receptor A measurement" "cholesteryl ester 24:6 measurement" "head and neck squamous cell carcinoma" + "obsolete_mesomelic and rhizo-mesomelic dysplasia" "growth hormone receptor measurement" "level of microfibrillar-associated protein 1 in blood serum" - "obsolete_mesomelic and rhizo-mesomelic dysplasia" "indole-3-carboxylic acid" "X-24544 measurement" "phosphoenolpyruvate carboxykinase, cytosolic [GTP]" @@ -13235,17 +13235,17 @@ "obsolete_camptodactyly of fingers" "level of lithostathine-1-beta in blood serum" "lipocalin-1 measurement" - "10x 5' v3"@en "ichthyosis-intellectual disability-dwarfism-renal impairment syndrome" "coelomocyte" + "10x 5' v3"@en "HLA class II histocompatibility antigen, DQ alpha 2 chain measurement" "X-linked recessive hereditary axonal motor and sensory neuropathy" "cytochrome c oxidase subunit 6C measurement" - "4-hydroxycoumarin measurement" "Barth syndrome" - "spastic paraplegia, intellectual disability, nystagmus, and obesity" "ubiquitin carboxyl-terminal hydrolase 5" "obsolete_mitochondrial disorder" + "4-hydroxycoumarin measurement" + "spastic paraplegia, intellectual disability, nystagmus, and obesity" "obsolete_Familial hyperaldosteronism" "pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 measurement" "acute transudative otitis media" @@ -13304,8 +13304,8 @@ "NCI-H661" "rosette growth complete stage" "Juvenile Xanthogranuloma" - "129S/SvEv"@en "Ly49H-positive natural killer cell, mouse" + "129S/SvEv"@en "antiphospholipid syndrome" "lung cancer" "sialic acid-binding Ig-like lectin 10 measurement" @@ -13354,8 +13354,8 @@ "level of alpha-actinin-2 in blood serum" "hereditary spastic paraplegia 39" "lymphogranuloma venereum" - "in-situ hybridization assay" "obsolete_essential strabismus" + "in-situ hybridization assay" "CITE-seq (sample multiplexing)" "obsolete accelerated tumor formation, susceptibility to" "obsolete_paternal uniparental disomy of chromosome 13" @@ -13364,10 +13364,10 @@ "obsolete autosomal monosomy" "mitochondrial complex IV deficiency, nuclear type 23" "Griscelli disease type 2" - "obsolete_episodic ataxia type 7" "Endometrial Undifferentiated Carcinoma" "corticoliberin measurement" "short-rib thoracic dysplasia 21 without polydactyly" + "obsolete_episodic ataxia type 7" "alpha-tocopherol" "oncocytic neoplasm" "obsolete_Atypical Mayer-Rokitansky-Küster-Hauser syndrome" @@ -13403,8 +13403,8 @@ "cleft larynx, posterior" "Leydig cell hypoplasia due to partial LH resistance" "response to antineoplastic agent" - "pasteurellosis" "N-acetylgalactosamine-6-sulfatase" + "pasteurellosis" "familial adenomatous polyposis 2" "1-aminocyclopropane-1-carboxylic acid meaaurement"@en "cecum lymphoma" @@ -13448,8 +13448,8 @@ "Syndrome associated with Pierre Robin syndrome" "3-ureidopropionate measurement"@en "Digenome-seq" - "lysine-specific demethylase 4C" "vitreous humor" + "lysine-specific demethylase 4C" "hemoglobinopathy" "obsolete_high bone mass osteogenesis imperfecta" "level of ubiquitin-conjugating enzyme E2 Q1 in blood serum" @@ -13473,9 +13473,9 @@ "familial meningioma" "E3 ubiquitin-protein ligase pellino homolog 1" "GM17281" - "obsolete_brachydactyly type A2" "benign neoplasm of maxillary sinus" "not rare" + "obsolete_brachydactyly type A2" "obsolete_partial deletion of the short arm of chromosome 8" "Illumina native fastq format" "sialolithiasis" @@ -13522,15 +13522,15 @@ "scavenger receptor cysteine-rich domain-containing group B protein" "filamin-related bone disorder" "obsolete_tetrasomy 5p" - "obsolete_tubular aggregate myopathy" "congenital disorder of deglycosylation 1" "interleukin-13" "APOE carrier status" "spinal cord lateral wall" "level of hydroxymethylglutaryl-CoA synthase, cytoplasmic in blood serum" + "obsolete_tubular aggregate myopathy" "response to intravenous immunoglobulin therapy" - "embryonic epipharynx" "carnitine palmitoyl transferase II deficiency, neonatal form" + "embryonic epipharynx" "Thrombocytopenia" "Ehlers-Danlos syndrome, classic-like, 2" "level of mitotic checkpoint serine/threonine-protein kinase BUB1 in blood serum" @@ -13542,8 +13542,8 @@ "obsolete_Brugada syndrome" "level of thymidine kinase 2, mitochondrial in blood serum" "Autosomal recessive spastic paraplegia type 55" - "lissencephaly spectrum disorder with complex brainstem malformation" "multiple synostoses syndrome 1" + "lissencephaly spectrum disorder with complex brainstem malformation" "level of far upstream element-binding protein 2 in blood serum" "level of apelin in blood serum" "CS57628" @@ -13568,8 +13568,8 @@ "long QT syndrome 3" "otosclerosis" "cartilage disease" - "Desulfovibrio alaskensis G20" "megalodactyly" + "Desulfovibrio alaskensis G20" "level of ceramide phosphoethanolamine in blood serum" "VirScan" "level of nesprin-2 in blood serum" @@ -13602,9 +13602,9 @@ "Congenital disorder of glycosylation with hepatic involvement" "cryptococcosis" "Primary bone dysplasia with defective bone mineralization" - "obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" "level of nucleobindin-2 in blood serum" "Labial hypoplasia" + "obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" "squamous cell breast carcinoma, acantholytic variant" "obsolete_Dent disease type 2" "Abnormal thrombosis" @@ -13677,8 +13677,8 @@ "level of 5'-nucleotidase domain-containing protein 1 in blood serum" "cell cycle checkpoint protein RAD1 measurement" "leprosy" - "obsolete_oromandibular-limb anomalies syndrome" "sclerocornea" + "obsolete_oromandibular-limb anomalies syndrome" "1-palmitoyl-2-palmitoleoyl-GPC (16:0/16:1) measurement" "N-arachidonoyl dopamine measurement" "level of zinc finger protein RFP in blood serum" @@ -13713,8 +13713,8 @@ "high grade malignant neoplasm" "Spontaneous pneumothorax" "surfeit locus protein 1 measurement" - "KPL1" "ephrin type-B receptor 2 measurement" + "KPL1" "Abnormality of the liver" "S-acyl fatty acid synthase thioesterase, medium chain" "Y-box-binding protein 1" @@ -13731,8 +13731,8 @@ "obsolete_1p21.3 microdeletion syndrome" "aniridia-cerebellar ataxia-intellectual disability syndrome" "coxsackievirus seropositivity" - "neuroblastoma, susceptibility to, 1" "adult malignant hemangiopericytoma" + "neuroblastoma, susceptibility to, 1" "X-23780 measurement" "autoinflammation with episodic fever and lymphadenopathy" "chromosome 4 disorder" @@ -13766,10 +13766,10 @@ "level of staphylococcal nuclease domain-containing protein 1 in blood serum" "level of BRO1 domain-containing protein BROX in blood serum" "odontogenic neoplasm" - "outer nuclear layer thickness measurement" "level of patatin-like phospholipase domain-containing protein 2 in blood serum" "obsolete_trigeminal ganglion" "muscle cancer" + "outer nuclear layer thickness measurement" "obsolete_Feingold syndrome type 2" "Xenopus laevis x Xenopus muelleri" "influenza A (H1N1)" @@ -13829,10 +13829,10 @@ "1-docosahexaenoyl-GPC (22:6) measurement" "nocodazole" "Primary dystonia, DYT13 type" - "obsolete_dicarboxylic aminoaciduria" - "enterococcus faecalis seropositivity" "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" + "enterococcus faecalis seropositivity" "obsolete_meristem" + "obsolete_dicarboxylic aminoaciduria" "level of protein dpy-30 in blood serum" "Kluyveromyces lactis" "perinatal lethal hypophosphatasia" @@ -13853,9 +13853,9 @@ "Camptodactyly - tall stature - scoliosis - hearing loss" "thrombospondin type-1 domain-containing protein 7A measurement" "phosphatidylinositol 5-phosphate 4-kinase type-2 alpha measurement" + "Neuro-2a" "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" "cot filtration for highly repetitive genomic DNA" - "Neuro-2a" "tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria" "obsolete_lymph vessel" "Aortic Coarctation" @@ -13868,8 +13868,8 @@ "obsolete_lethal omphalocele-cleft palate syndrome" "myocardial zonula adherens protein measurement" "obsolete_Marie Unna hereditary hypotrichosis" - "breast cancer cell line" "obsolete_Coffin-Siris syndrome" + "breast cancer cell line" "m1A mapping" "obsolete_common mesentery" "Preauricular pit" @@ -13939,8 +13939,8 @@ "core histone macro-H2A.1" "level of regenerating islet-derived protein 3-alpha in blood serum" "diacylglycerol 44:6 measurement" - "Male infertility due to obstructive azoospermia of genetic origin" "level of sulfotransferase 1E1 in blood serum" + "Male infertility due to obstructive azoospermia of genetic origin" "obsolete_Langer mesomelic dysplasia" "IMAGe syndrome" "antigen profiling" @@ -13955,8 +13955,8 @@ "serine/threonine-protein kinase 17B measurement" "Enterococcus casseliflavus" "malignant tumor of nasopharynx" - "autoimmune hypoparathyroidism" "next to BRCA1 gene 1 protein" + "autoimmune hypoparathyroidism" "N-(3E-hexadecenoyl)-deoxysphing-4-enine-1-sulfonate" "macrophage" "syndromic breast hypoplasia/aplasia" @@ -14060,9 +14060,9 @@ "serine--tRNA ligase, mitochondrial" "Steatocystoma multiplex - natal teeth" "obsolete_trisomy 4p" - "blood ethylparaben sulfate measurement" "ethylmalonate measurement"@en "level of bone morphogenetic protein 15 in blood serum" + "blood ethylparaben sulfate measurement" "4-Hydroxybenzaldehyde measurement" "carcinogenicity" "protocadherin gamma-A1" @@ -14160,20 +14160,20 @@ "Calf muscle hypertrophy" "famotidine" "hatipoglu immunodeficiency syndrome" + "obsolete_occipital pachygyria and polymicrogyria" "dihydropyrimidinuria" + "hypertensive encephalopathy" "partial duplication of the long arm of chromosome 10" "autosomal recessive ataxia due to PEX10 deficiency" - "obsolete_occipital pachygyria and polymicrogyria" - "hypertensive encephalopathy" - "ribose-phosphate pyrophosphokinase 2" "integrin alpha-V: beta-5 complex measurement" + "ribose-phosphate pyrophosphokinase 2" "pterygium" "lymphoplasmacytic lymphoma" - "acquired hemoglobinopathy" "mandibular cancer" + "acquired hemoglobinopathy" "level of ubiquitin-conjugating enzyme E2 Q2 in blood serum" - "progressive cerebello-cerebral atrophy" "cup-to-disc ratio measurement" + "progressive cerebello-cerebral atrophy" "Ly49D-negative natural killer cell, mouse" "FVB"@en "telencephalic ventricle" @@ -14202,13 +14202,13 @@ "level of DNA/RNA-binding protein KIN17 in blood serum" "obsolete_subependymal nodular heterotopia" "hypersensitivity pneumonitis, familial" - "oleoyl-oleoyl-glycerol (18:1/18:1) [2] measurement" "X-12798-to-phenylalanine ratio" "MATQ-seq" "B cell derived cell line" "vulvovaginal candidiasis" "congenital hematological disorder" "level of protein MENT in blood serum" + "oleoyl-oleoyl-glycerol (18:1/18:1) [2] measurement" "level of serine/threonine-protein kinase tousled-like 1 in blood serum" "obsolete_hypophosphatasia" "Autosomal recessive spastic paraplegia type 28" @@ -14223,9 +14223,9 @@ "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" "gangrene" "function" - "Microphthalmia - brain atrophy" "hepatic stellate cell" "nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis" + "Microphthalmia - brain atrophy" "Streptomyces venezuelae" "GM17794" "gastroenteritis" @@ -14372,8 +14372,8 @@ "Epidermal thickening" "Benign Ovarian Surface Epithelial-Stromal Tumor" "GlcNAc sulfate conjugate of C21H34O2 steroid measurement" - "protein argonaute-1 measurement" "free cholesterol to total lipids in very large HDL percentage " + "protein argonaute-1 measurement" "Pelvic kidney" "epilepsy, idiopathic generalized, susceptibility to, 8" "McLeod neuroacanthocytosis syndrome" @@ -14467,8 +14467,8 @@ "embryonic precursor of adult hindgut" "long bone" "ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features" - "neogenin" "uncultured Acidobacteria bacterium" + "neogenin" "WD repeat-containing protein 26" "Cryptopygus antarcticus" "Anopheles arabiensis" @@ -14484,8 +14484,8 @@ "level of pyridoxine-5'-phosphate oxidase in blood serum" "hereditary breast carcinoma" "transient myeloproliferative syndrome" - "rotenone" "Epithelio-exfoliative colitis - deafness" + "rotenone" "linolenic acid" "Gastric Mucosa-Associated Lymphoid Tissue Lymphoma" "obsolete Juberg-Marsidi syndrome" @@ -14518,11 +14518,11 @@ "seed structure" "probable dimethyladenosine transferase measurement" "obsolete_ring chromosome 14" - "HS-68 cell" "obsolete prenatal benign hypophosphatasia" "benign phyllodes tumor" "Delirium" "X-14977--vanillin measurement" + "HS-68 cell" "immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte" "cadmium atom" "chewing tobacco behavior" @@ -14562,9 +14562,9 @@ "osteopathia striata with cranial sclerosis" "obsolete_hypothyroidism due to TSH receptor mutations" "obsolete_hereditary methemoglobinemia" - "obsolete_Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement" "escherichia seropositivity" "obsolete Abnormality of the bronchi" + "obsolete_Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement" "level of dihydropyrimidinase in blood serum" "dystrotelin" "5 prime tag" @@ -14579,9 +14579,9 @@ "Ochoa syndrome" "apolipoprotein C-II" "obsolete 46,XX sex reversal 1" + "Torticollis - keloids - cryptorchidism - renal dysplasia" "alanine glyoxylate aminotransferase deficiency" "Mycoplasma pneumoniae pneumonia" - "Torticollis - keloids - cryptorchidism - renal dysplasia" "microvascular complications of diabetes, susceptibility to, 4" "global developmental delay, progressive ataxia, and elevated glutamine" "tubulin--tyrosine ligase" @@ -14653,8 +14653,8 @@ "level of regenerating islet-derived protein 3-gamma in blood serum" "ubiquinone biosynthetic process" "level of tetratricopeptide repeat protein 9A in blood serum" - "obsolete_4-hydroxybutyric aciduria" "obsolete_mesomelic dwarfism, Nievergelt type" + "obsolete_4-hydroxybutyric aciduria" "immunoglobulin lambda-like polypeptide 1 measurement" "sulfate transporter-related osteochondrodysplasia"@en "infantile-onset mesial temporal lobe epilepsy with severe cognitive regression" @@ -14710,8 +14710,8 @@ "Severe achondroplasia - developmental delay - acanthosis nigricans" "CD14 molecule" "induced myeloid leukemia cell differentiation protein Mcl-1 measurement" - "HITS-KIN" "ChIP" + "HITS-KIN" "bromochloroacetic acid" "hypermanganesemia with dystonia 2" "Candidatus Pelagibacter ubique HTCC1062" @@ -14721,13 +14721,13 @@ "obsolete_Partington syndrome" "macular dystrophy with or without cone dysfunction" "obsolete_familial thrombocytosis" + "obsolete_campomelic dysplasia" "Kidney Cyst" "RDH5-related retinopathy" "level of Ceramide (d40:2) in blood serum" "high content screen of cells in a gene deletion library" "level of lymphocyte antigen 75 isoform 4 and LY75-CD302 fusion isoforms V34-2/V33-2 (human) in blood serum" "CS57560" - "obsolete_campomelic dysplasia" "Hypertyrosinemia" "sialic acid-binding Ig-like lectin 12 measurement" "obsolete_COFS syndrome" @@ -14760,10 +14760,10 @@ "E3 ISG15--protein ligase HERC5" "level of Xaa-Pro aminopeptidase 3 in blood serum" "gRNA-seq" - "obsolete_congenital amegakaryocytic thrombocytopenia" "L-urobilin measurement" "transitional cell neoplasm" "Charcot-Marie-Tooth disease, dominant intermediate G" + "obsolete_congenital amegakaryocytic thrombocytopenia" "ectodermal dysplasia and immune deficiency" "Genetic urogenital tract malformation" "obsolete_fin bud" @@ -14787,8 +14787,8 @@ "cerebral sarcoma" "creatine" "flavin-containing monooxygenase 3" - "central hearing loss" "X-24571 measurement" + "central hearing loss" "ChIP-chip by array" "Hypogonadotropic hypogonadism - retinitis pigmentosa" "distal 7q11.23 microdeletion syndrome" @@ -14887,15 +14887,15 @@ "glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form" "ureter tuberculosis" "obsolete_autosomal recessive frontotemporal pachygyria" - "obsolete Bartter disease type 1" "level of NAD kinase 2, mitochondrial in blood serum" + "obsolete Bartter disease type 1" "operator variation" "GM11830" "B-cell antigen receptor complex-associated protein alpha chain measurement" "MBD-seq" "obsolete partial duplication of the long arm of chromosome 11" - "hypertensive retinopathy" "phosphoribosyl pyrophosphate synthase-associated protein 1" + "hypertensive retinopathy" "obsolete_rat strain" "trimethylbenzene" "hemoglobinuria" @@ -14920,8 +14920,8 @@ "n-terminal Xaa-Pro-Lys N-methyltransferase 1 measurement" "level of mucosa-associated lymphoid tissue lymphoma translocation protein 1 in blood serum" "level of carbohydrate sulfotransferase 10 in blood serum" - "obsolete multiple epiphyseal dysplasia and pseudoachondroplasia" "alternating hemiplegia of childhood 2" + "obsolete multiple epiphyseal dysplasia and pseudoachondroplasia" "obsolete_genetic peripheral neuropathy" "level of Rho GTPase-activating protein 45 in blood serum" "benign eccrine neoplasm" @@ -14944,8 +14944,8 @@ "CS57630" "ischemic bowel disorder" "Poor speech" - "obsolete_X-linked complicated corpus callosum dysgenesis" "protocadherin gamma-A10" + "obsolete_X-linked complicated corpus callosum dysgenesis" "central nervous system toxicity" "autosomal recessive nonsyndromic hearing loss 2" "prostate intraepithelial neoplasia" @@ -14965,15 +14965,15 @@ "inherited dystonia" "obsolete_frontal lobe" "fornix volume measurement"@en + "obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "myofibrillar myopathy 4" "melanoma, cutaneous malignant, susceptibility to, 2" "obsolete_hypertelorism-preauricular sinus-punctual pits-deafness syndrome" "Epithelioid Cell Uveal Melanoma" - "obsolete_autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" + "obsolete_macrodactyly of fingers, bilateral" "obsolete_hereditary hypophosphatemic rickets with hypercalciuria" "level of synaptojanin-2-binding protein in blood serum" "thyroid hormone metabolism, abnormal" - "obsolete_macrodactyly of fingers, bilateral" "Pearson syndrome" "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" "brain density measurement"@en @@ -14996,8 +14996,8 @@ "obsolete_spinocerebellar ataxia type 1" "Arabidopsis halleri" "Juberg-Hayward syndrome" - "pancytopenia-developmental delay syndrome" "response to antimetabolite" + "pancytopenia-developmental delay syndrome" "precursor T-cell lymphoblastic leukemia-lymphoma" "nucleoside phosphate metabolic process" "neuronal tumor" @@ -15032,8 +15032,8 @@ "Papaver somniferum" "3-aminophenol" "hypophosphatemic nephrolithiasis/osteoporosis 1" - "Benign Renal Pelvis Neoplasm" "Cleft lip/palate - deafness - sacral lipoma" + "Benign Renal Pelvis Neoplasm" "tyrosine change measurement" "Increased circulating IgE level" "anterior segment dysgenesis" @@ -15083,12 +15083,12 @@ "Genetic susceptibility to infections due to particular pathogens" "Lethal restrictive dermopathy" "GM17233" - "type 1 diabetes nephropathy" "obsolete_presumptive spinal cord" "systemic mycosis" + "type 1 diabetes nephropathy" "mirror movements 2" - "autosomal dominant pure spastic paraplegia" "switch-associated protein 70 measurement" + "autosomal dominant pure spastic paraplegia" "Alexandrium tamarense" "adult central nervous system germinoma" "KYSE30" @@ -15135,10 +15135,10 @@ "obsolete_isolated Dandy-Walker malformation without hydrocephalus" "viral RNA data" "Gliosis" - "obsolete_corneal-cerebellar syndrome" "Non-dystrophic myopathy with collagen 6 anomaly" "Appendix Adenocarcinoma" "hepatic and glial cell adhesion molecule" + "obsolete_corneal-cerebellar syndrome" "obsolete_mucopolysaccharidosis type 6, rapidly progressing" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1" "KBM-3"@en @@ -15249,15 +15249,15 @@ "synovial membrane" "SYNCRIP-related neurodevelopmental disorder" "Magnetospirillum magneticum AMB-1" + "crypt" "obsolete_Beckwith-Wiedemann syndrome due to 11p15 microduplication" "phosphatidylcholine diacyl C28:1 measurement" - "crypt" "ceftriaxone" "ACCES syndrome" "obsolete_cobblestone lissencephaly without muscular or ocular involvement" "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase" - "potassium bicarbonate measurement" "WAP four-disulfide core domain protein 10A" + "potassium bicarbonate measurement" "protein mono-ADP-ribosyltransferase PARP11" "keratin, type I cuticular Ha4" "intellectual disability, autosomal recessive 58" @@ -15336,8 +15336,8 @@ "Guanarito virus" "level of gap junction delta-2 protein in blood serum" "Abnormal cardiac atrium morphology" - "Estrogen resistance syndrome" "Epidermolysis bullosa simplex, Ogna type" + "Estrogen resistance syndrome" "SCP2 sterol-binding domain-containing protein 1 measurement" "Yersinia pestis" "gonadal agenesis" @@ -15380,10 +15380,10 @@ "histone acetyltransferase kat6a measurement" "level of heat shock protein HSP 90-alpha in blood serum" "level of proteasome subunit beta type-3 in blood serum" + "obsolete_maternally-inherited diabetes and deafness" "obsolete cytoplasmic part" "testis-expressed protein 29" "response to diisocyanate" - "obsolete_maternally-inherited diabetes and deafness" "fibronectin seropositivity" "homeobox protein Mohawk" "T cell immunoreceptor with Ig and ITIM domains" @@ -15450,9 +15450,9 @@ "short rib-polydactyly syndrome, Majewski type" "neurodegeneration with brain iron accumulation 8" "Autosomal dominant Charcot-Marie-Tooth disease type 2L" + "tyrosine-protein phosphatase non-receptor type 6 measurement" "obsolete_platyspondylic dysplasia, Torrance type" "2'-5'-oligoadenylate synthase 1 measurement" - "tyrosine-protein phosphatase non-receptor type 6 measurement" "spondyloepimetaphyseal dysplasia, matrilin-3 type" "astaxanthin measurement" "linguistic error measurement" @@ -15497,9 +15497,9 @@ "obsolete isolated Klippel-Feil syndrome" "ovarian serous tumor" "Charcot-Marie-Tooth disease type 4F" + "X-linked severe congenital neutropenia" "laryngeal sarcoma" "neurogenic palpebral tumor" - "X-linked severe congenital neutropenia" "immunoglobulin superfamily member 8" "obsolete_pelvic fin bud" "obsolete_STT3A-CDG" @@ -15512,8 +15512,8 @@ "liver disease biomarker" "intestinal polyp" "cation-dependent mannose-6-phosphate receptor measurement" - "insect visual primordium" "obsolete_benign familial nocturnal alternating hemiplegia of childhood" + "insect visual primordium" "cubilin measurement" "Rhodopseudomonas palustris" "Abnormality of the kidney" @@ -15526,8 +15526,8 @@ "X-24574 measurement" "methylation profiling by high throughput sequencing" "anterior compartment syndrome" - "porencephaly-microcephaly-bilateral congenital cataract syndrome" "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" + "porencephaly-microcephaly-bilateral congenital cataract syndrome" "multiple epiphyseal dysplasia, Al-Gazali type" "Hepatosplenomegaly" "central nervous system endodermal sinus tumor" @@ -15548,8 +15548,8 @@ "X inactivation, familial skewed, 1" "cadmium chloride measurement"@en "subacute bacterial endocarditis" - "A2780" "UL16-binding protein 2" + "A2780" "ATTRV122I amyloidosis" "chronic respiratory distress with surfactant metabolism deficiency" "Autosomal dominant cerebellar ataxia type 2" @@ -15593,8 +15593,8 @@ "Pierre Robin syndrome associated with miscellaneous anomalies" "Teleopsis thaii" "Umbilical hernia" - "obsolete_3-hydroxyisobutyric aciduria" "PA-TU-8988S" + "obsolete_3-hydroxyisobutyric aciduria" "congenital hereditary endothelial dystrophy of cornea" "mucoepidermoid carcinoma of submandibular gland" "Kidney Medullary Carcinoma" @@ -15622,8 +15622,8 @@ "obsolete_Camurati-Engelmann disease" "glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form" "Gait imbalance" - "level of glycosaminoglycan xylosylkinase in blood serum" "obsolete_median nodule of the upper lip" + "level of glycosaminoglycan xylosylkinase in blood serum" "differential expression analysis data" "myristate 14:0-to-myristoleate 14:1n5 ratio" "Rab11 family-interacting protein 3" @@ -15646,10 +15646,10 @@ "cullin-3 measurement" "octadecenedioylcarnitine (C18:1-DC) measurement" "obsolete_Oci-Ly-3" - "cervical disc degenerative disorder" "chromosome 15 disorder" "susceptibility to respiratory infections associated with CD8alpha chain mutation" "obsolete_pharyngeal pouch 3" + "cervical disc degenerative disorder" "ankyloglossia" "adenylosuccinate synthetase isozyme 1" "NAD kinase measurement" @@ -15721,10 +15721,10 @@ "GM23338" "calcium-binding protein 8" "3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial" + "allograft inflammatory factor 1 measurement" "hematopoietic lineage cell-specific protein" "obsolete_labial sensory complex primordium" "Theiler stage 21" - "allograft inflammatory factor 1 measurement" "Developmental delay with variable intellectual impairment and behavioural abnormalities"@en "obsolete_anguloarticular" "sweetening agent" @@ -15754,9 +15754,9 @@ "Rare genetic odontologic disease" "putative protein-lysine deacylase ABHD14B" "obsolete_epilepsy syndrome" + "obsolete_hepatoerythropoietic porphyria" "level of DnaJ homolog subfamily B member 13 in blood serum" "oropharynx squamous cell carcinoma" - "obsolete_hepatoerythropoietic porphyria" "obsolete_fat body sensu invertebrata" "level of PRKCA-binding protein in blood serum" "R-6-Hydroxywarfarin" @@ -15805,10 +15805,10 @@ "obsolete_congenital myasthenic syndromes with glycosylation defect" "translin measurement" "fatal familial insomnia" - "Qualitative or quantitative defects of collagen 6" "Pavo cristatus" - "glycylvaline measurement" + "Qualitative or quantitative defects of collagen 6" "level of ubiquitin carboxyl-terminal hydrolase 8 in blood serum" + "glycylvaline measurement" "interleukin-23 measurement" "laurin-Sandrow syndrome" "GM17793" @@ -15825,22 +15825,22 @@ "neoplasm of temporal lobe" "cotyledon abaxial epidermis" "autosomal recessive complex spastic paraplegia" - "Wieacker-Wolff syndrome (spectrum)" "small intestine Peyer's patch T cell" - "Kasumi2" + "Wieacker-Wolff syndrome (spectrum)" "Fc receptor-like protein 3 measurement" - "killer cell immunoglobulin-like receptor 3DL1" + "Kasumi2" "skin infection" + "killer cell immunoglobulin-like receptor 3DL1" "disorder of manganese transport" "Kabuki syndrome" "tiller" "malignant tumor of palpebral epidermis" "response to methazolamide"@en "Pulmonary capillary hemangiomatosis" + "Paraganglioma" "tumor necrosis factor receptor superfamily member 10D measurement" "developmental and epileptic encephalopathy 100" "4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride" - "Paraganglioma" "3-hydroxyoctanoate measurement" "thoracic aortic raised atherosclerotic lesion" "acquired hemangioma" @@ -15997,12 +15997,12 @@ "X-23974 measurement" "Aristolochia fimbriata" "myelin protein P0 measurement" - "elongation factor 1-beta measurement" "DCN1-like protein 3" "retroarticular" "autosomal dominant wooly hair" - "level of putative melanoma-associated antigen 5P in blood serum" "Sickle cell - hemoglobin E disease" + "elongation factor 1-beta measurement" + "level of putative melanoma-associated antigen 5P in blood serum" "obsolete_genetic vascular anomaly" "temporal measurement" "hypomagnesemia 7, renal, with or without dilated cardiomyopathy" @@ -16062,10 +16062,10 @@ "indifference to pain, congenital, autosomal dominant" "decidua basalis" "Periventricular heterotopia" - "sphingomyelin 18:1" "obsolete_frontotemporal dementia with motor neuron disease" - "LC2/AD" + "sphingomyelin 18:1" "Familial porphyria cutanea tarda" + "LC2/AD" "inbred" "secreted frizzled-related protein 2 measurement" "Generalized junctional epidermolysis bullosa, non-Herlitz type" @@ -16161,9 +16161,9 @@ "episodic ataxia type 5" "obsolete_pseudohyperaldosteronism type 2" "hereditary geniospasm" - "obsolete_pancytopenia-developmental delay syndrome" "3-Indolepropionic acid to N,N-Dimethylglycine ratio" "level of phosphatidylcholine transfer protein in blood serum" + "obsolete_pancytopenia-developmental delay syndrome" "mature CD11c-low plasmacytoid dendritic cell" "m-hydroxyhippurate" "obsolete_46,XX disorder of gonadal development" @@ -16171,11 +16171,11 @@ "Hb Bart's hydrops fetalis" "CMRF35-like molecule 8" "intellectual developmental disorder with macrocephaly, seizures, and speech delay" - "alpha-CEHC glucuronide measurement" "adenylate kinase 4, mitochondrial" - "cancer cell line sample" "level of aminopeptidase N in blood serum" + "cancer cell line sample" "muscular pseudohypertrophy-hypothyroidism syndrome" + "alpha-CEHC glucuronide measurement" "syntactic complexity measurement" "serous neoplasm" "basophilic promyelocyte" @@ -16218,8 +16218,8 @@ "aarF domain-containing protein kinase 4 measurement" "ficolin-1 measurement" "obsolete_Machado-Joseph disease type 3" - "obsolete_hyper-IgM syndrome type 2" "transmembrane protein 154" + "obsolete_hyper-IgM syndrome type 2" "obsolete_LMNA-related cardiocutaneous progeria syndrome" "Toledo" "obsolete_type II diabetes mellitus" @@ -16252,8 +16252,8 @@ "level of Tryptophyl-Asparagine in blood" "anterior ischemic optic neuropathy" "protein-tyrosine sulfotransferase 1 measurement" - "thymic basaloid carcinoma" "obsolete esophageal malformation" + "thymic basaloid carcinoma" "level of RELT-like protein 1 in blood serum" "level of protein shisa-like-2A in blood serum" "Parkinson disease, dominant"@en @@ -16274,8 +16274,8 @@ "level of peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 in blood serum" "level of frizzled-2 in blood serum" "pituitary gland disease" - "nerve root" "Genetic motor neuron disease" + "nerve root" "hereditary spastic paraplegia 4" "level of glutamate receptor ionotropic, delta-1 in blood serum" "lethal Larsen-like syndrome" @@ -16283,8 +16283,8 @@ "oleoyl-arachidonoyl-glycerol (18:1/20:4) [1] measurement" "Vang-like protein 1" "weight-to-muscle ratio"@en - "phospholipids in very large VLDL measurement " "engulfment and cell motility protein 2" + "phospholipids in very large VLDL measurement " "stearoylcarnitine measurement" "smad5" "interstitial dendritic cell" @@ -16301,8 +16301,8 @@ "HG03095" "DNase-hypersensitivity seq" "periosteal chondrosarcoma" - "level of microtubule nucleation factor SSNA1 in blood serum" "Autosomal dominant Charcot-Marie-Tooth disease type 2A1" + "level of microtubule nucleation factor SSNA1 in blood serum" "craniotelencephalic dysplasia" "ubiquitin carboxyl-terminal hydrolase isozyme L1 measurement" "level of motor neuron and pancreas homeobox protein 1 in blood serum" @@ -16328,11 +16328,11 @@ "HGADFN167" "bone inflammation disease" "tiadinil measurement" - "obsolete_pharyngeal pouch 6" "obsolete_distal trisomy 1p36" + "obsolete_pharyngeal pouch 6" + "obsolete_Oguchi disease" "chronic inflammatory demyelinating polyneuropathy" "SCMDA" - "obsolete_Oguchi disease" "octenoylcarnitine measurement" "cholesteryl ester 22:1 measurement" "level of endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase in blood serum" @@ -16364,8 +16364,8 @@ "sarcomatoid transitional cell carcinoma" "obsolete_occipital lobe" "BRCA1-related cancer predisposition" - "Ethmoid Sinus Adenoid Cystic Carcinoma" "Liddle syndrome" + "Ethmoid Sinus Adenoid Cystic Carcinoma" "(N(omega)-L-arginino)succinic acid" "folate intake measurement"@en "chromosome 16 disorder" @@ -16429,10 +16429,10 @@ "hFib2-iPS4" "serine/threonine-protein kinase OSR1" "autosomal recessive spondylocostal dysostosis" + "alpha-(1,3)-fucosyltransferase 5 measurement" "muscular dystrophy-dystroglycanopathy, type C" "obsolete_labral sensory complex primordium" "Theiler stage 22" - "alpha-(1,3)-fucosyltransferase 5 measurement" "X-09706 measurement" "Cardiac-urogenital syndrome"@en "obsolete_trunk musculature" @@ -16499,9 +16499,9 @@ "Human papillomavirus" "level of hepatoma-derived growth factor-like protein 1 in blood serum" "obsolete_alopecia" + "obsolete_developmental delay with autism spectrum disorder and gait instability" "Congenital atransferrinemia" "tRNA (guanine-N(7)-)-methyltransferase" - "obsolete_developmental delay with autism spectrum disorder and gait instability" "NAD-dependent protein deacylase sirtuin-5, mitochondrial measurement" "GRIL-seq" "fibrous dysplasia" @@ -16578,8 +16578,8 @@ "Pectobacterium carotovorum infection" "Amish nemaline myopathy" "nebulin-related early-onset distal myopathy" - "eosinophilic gastroenteritis" "AG10941" + "eosinophilic gastroenteritis" "GM09585" "myristoleoylcarnitine (C14:1) measurement" "short stature-valvular heart disease-characteristic facies syndrome" @@ -16624,10 +16624,10 @@ "obsolete_pure or complex autosomal recessive spastic paraplegia" "obsolete_Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia" "level of coiled-coil domain-containing protein 69 in blood serum" - "3-hydroxybutyrate change measurement" "in situ sequencing" - "small integral membrane protein 9" "Anterior creases of earlobe" + "small integral membrane protein 9" + "3-hydroxybutyrate change measurement" "Non-steroidal anti-inflammatory and antirheumatic product use measurement" "Streptococcus sanguinis" "knee" @@ -16659,8 +16659,8 @@ "Lilium hybrid division I" "level of Ras-related protein Rab-14 in blood serum" "obsolete_glycogen storage disease due to lactate dehydrogenase deficiency" - "malignant cornea melanoma" "N-acetyltyrosine measurement"@en + "malignant cornea melanoma" "66cl4" "phosphatidylcholine diacyl C32:0 measurement" "cell culture supernatant"@en @@ -16668,8 +16668,8 @@ "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11" "heart leiomyosarcoma" "Hypotonia - failure to thrive - microcephaly" - "amyotrophic lateral sclerosis 26 with or without frontotemporal dementia" "Morvan syndrome" + "amyotrophic lateral sclerosis 26 with or without frontotemporal dementia" "infantile epileptic encephalopathy" "combined immunodeficiency due to LRBA deficiency" "obsolete_lysinuric protein intolerance" @@ -16708,9 +16708,9 @@ "anophthalmia/microphthalmia-esophageal atresia syndrome" "cholecystolithiasis" "neuronal ceroid lipofuscinosis 5" + "glutathione S-transferase Mu 1 measurement" "Charcot-Marie-Tooth disease type 1E" "periventricular nodular heterotopia" - "glutathione S-transferase Mu 1 measurement" "X-23997 measurement" "lacrimal gland carcinoma ex pleomorphic adenoma" "tinea manuum" @@ -16722,8 +16722,8 @@ "Rho-associated protein kinase 2" "obsolete_Tolosa-Hunt syndrome" "X-linked spinocerebellar ataxia type 4" - "obsolete_Tay-Sachs disease" "Seckel syndrome 8" + "obsolete_Tay-Sachs disease" "Gastrostomy tube feeding in infancy" "obsolete_auriculocondylar syndrome" "neuronopathy, distal hereditary motor, type 5" @@ -16746,9 +16746,9 @@ "Junctional epidermolysis bullosa - pyloric atresia" "obsolete_Cornelia de Lange syndrome" "Absent vas deferens" + "tuftelin-interacting protein 11 measurement" "PhIP-seq" "childhood malignant melanoma" - "tuftelin-interacting protein 11 measurement" "obsolete_immunoglobulin heavy chain deficiency" "level of GDP-fucose protein O-fucosyltransferase 1 in blood serum" "neuron projection" @@ -16770,10 +16770,10 @@ "Fibrofolliculoma" "level of heat shock 70 kDa protein 13 in blood serum" "NCI-H2452" - "acetylcholine-gated monoatomic cation-selective channel activity" "obsolete intracellular organelle part" "DOMON domain-containing protein FRRS1L" "Culex quinquefasciatus" + "acetylcholine-gated monoatomic cation-selective channel activity" "probable RNA-binding protein EIF1AD measurement" "obsolete_pituitary deficiency" "obsolete_pectoral fin musculature" @@ -16797,8 +16797,8 @@ "bronchoalveolar adenocarcinoma" "A/G-specific adenine DNA glycosylase measurement" "transcriptional adapter 1-like protein" - "obsolete non-syndromic esophageal malformation" "short stature and microcephaly with genital anomalies" + "obsolete non-syndromic esophageal malformation" "level of zinc finger protein 843 in blood serum" "familial scaphocephaly syndrome, McGillivray type" "cardiomyopathy, dilated, 2G" @@ -16852,11 +16852,11 @@ "cytochrome c oxidase subunit 5A, mitochondrial" "level of Rho GTPase-activating protein 25 in blood serum" "endoplasmic reticulum resident protein 29 measurement" - "vascular smooth muscle hypertrophy" "bone benign neoplasm" + "vascular smooth muscle hypertrophy" "nucleus of medial longitudinal fasciculus of medulla" - "high content screening stage" "level of Ceramide (d42:1) in blood serum" + "high content screening stage" "level of transmembrane protein 225B (human) in blood serum" "Multiple prenatal fractures" "level of transmembrane protein 59-like in blood serum" @@ -16921,10 +16921,10 @@ "level of myelin-oligodendrocyte glycoprotein in blood serum" "childhood central nervous system germ cell tumor" "testicular non-seminomatous germ cell cancer" + "carboxyethyl-GABA measurement" "dorsolateral prefrontal cortex functional measurement" "formiminoglutamic aciduria" "level of neuferricin in blood serum" - "carboxyethyl-GABA measurement" "obsolete_glutaryl-CoA dehydrogenase deficiency" "percent glycated albumin" "Type I truncus arteriosus" @@ -17083,8 +17083,8 @@ "peripheral plasma membrane protein CASK" "obsolete_congenital sucrase-isomaltase deficiency" "maleate(1-)" - "obsolete_hereditary sensory and autonomic neuropathy type 7" "Vascular skin abnormality" + "obsolete_hereditary sensory and autonomic neuropathy type 7" "interleukin-31 receptor subunit alpha measurement" "GTP cyclohydrolase 1 feedback regulatory protein" "mesenchymal tumor of small intestine" @@ -17109,12 +17109,12 @@ "White matter hypoplasia - corpus callosum agenesis - intellectual disability" "oculogastrointestinal muscular dystrophy" "lisinopril measurement" - "genetic non-acquired premature ovarian failure"@en "obsolete_head mesoderm anlage" "Theiler stage 24" - "hepatitis B virus induced hepatocellular carcinoma" + "genetic non-acquired premature ovarian failure"@en "peritonsillar abscess" "septum of telencephalon" + "hepatitis B virus induced hepatocellular carcinoma" "Schinzel-Giedion syndrome" "spondyloepimetaphyseal dysplasia, Handigodu type" "AB SOLiD System 3.0" @@ -17134,12 +17134,12 @@ "collagen alpha-2(XI) chain measurement" "dihomo-linolenate 20:3n3 or n6 measurement" "temporal lobe cancer" - "Antiglaucoma preparations and miotics use measurement" "renal pelvis inverted papilloma" "Aplasia/Hypoplasia of the cerebellum" "valine--tRNA ligase" - "lung disease severity measurement" + "Antiglaucoma preparations and miotics use measurement" "microcephaly, short stature, and limb abnormalities" + "lung disease severity measurement" "obsolete_Li-Fraumeni syndrome" "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" "infectious otitis media" @@ -17200,10 +17200,10 @@ "serine/threonine-protein kinase ULK3" "basic salivary proline-rich protein 4 measurement" "Teleopsis whitei" - "E3 ubiquitin-protein ligase RBBP6 measurement" "obsolete_PFAPA syndrome" - "3-Indolepropionic acid to Methylmalonic acid ratio" + "E3 ubiquitin-protein ligase RBBP6 measurement" "trichodysplasia-xeroderma syndrome" + "3-Indolepropionic acid to Methylmalonic acid ratio" "interleukin-3 measurement" "alternating hemiplegia" "myofibrillar myopathy 10" @@ -17340,10 +17340,10 @@ "anus cancer" "biotin-responsive basal ganglia disease" "actin-related protein 2/3 complex subunit 5" - "Perturb-Seq" "obsolete_coralliform cataract" - "obsolete familial patent arterial duct" + "Perturb-Seq" "dodecenedioate (C12:1-DC) measurement" + "obsolete familial patent arterial duct" "Usher syndrome type 2" "AG08048" "phosphoserine aminotransferase" @@ -17408,9 +17408,9 @@ "Rare genetic systemic or rheumatologic disease" "level of acyl-CoA-binding domain-containing protein 4 in blood serum" "HCC2429"@en + "neoplasm of cerebral hemisphere" "otopalatodigital syndrome spectrum disorder" "Kyasanur forest disease virus" - "neoplasm of cerebral hemisphere" "brain inflammatory disease" "spondyloepiphyseal dysplasia, Cantu type" "2-arachidonoyl-GPC (20:4) measurement" @@ -17452,9 +17452,9 @@ "late cornified envelope protein 3B" "resistance training" "passage number" - "obsolete_neurofibromatosis type 3" "insulin-like growth factor-binding protein-like 1 measurement" "N2-methylguanosine measurement" + "obsolete_neurofibromatosis type 3" "NCI-H2461" "meconium aspiration syndrome" "ubiquitin-conjugating enzyme E2 C" @@ -17511,8 +17511,8 @@ "4-methoxyphenol sulfate measurement" "obsolete_cardiospondylocarpofacial syndrome" "lateral line ganglion" - "animal allergen seropositivity" "obsolete_congenital microcoria" + "animal allergen seropositivity" "obsolete_anterior lateral line system" "establishment of localization in cell" "X-11478 measurement" @@ -17557,8 +17557,8 @@ "cervical spina bifida aperta" "icosanoate" "aspartoacylase" - "3-Indolepropionic acid to 2-(dimethylamino) guanosine ratio" "methapyrilene" + "3-Indolepropionic acid to 2-(dimethylamino) guanosine ratio" "folding of antihelix" "central polydactyly of fingers" "obsolete_acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" @@ -17805,8 +17805,8 @@ "Eucalyptus nitens" "Pimephales promelas" "young-onset Parkinson disease" - "obsolete_isolated dystonia" "immunodeficiency, common variable, 14" + "obsolete_isolated dystonia" "hepatitis C virus induced hepatocellular carcinoma" "sodium channel subunit beta-4" "partial deletion of the long arm of chromosome 15" @@ -17892,8 +17892,8 @@ "cerebellar ataxia" "autosomal recessive intermediate Charcot-Marie-Tooth disease" "protein assay" - "male infertility due to globozoospermia" "ochratoxin A" + "male infertility due to globozoospermia" "Smart-seq3"@en "level of SH2 domain-containing protein 1B in blood serum" "SCN4A-related channelopathy" @@ -17932,8 +17932,8 @@ "Complex Endometrial Hyperplasia" "Laryngomalacia" "level of disintegrin and metalloproteinase domain-containing protein 19 in blood serum" - "obsolete_isolated congenital microcephaly" "Bifidobacterium" + "obsolete_isolated congenital microcephaly" "Picea glauca" "tick-borne infectious disease" "CD8-Positive T-Lymphocytes" @@ -18024,10 +18024,10 @@ "LRP5-related primary osteoporosis" "Trichoderma reesei QM6a" "CS57850" - "obsolete_short stature, Brussels type" "level of small RNA 2'-O-methyltransferase in blood serum" - "obsolete_complement component 3 deficiency" + "obsolete_short stature, Brussels type" "bilateral microtia-deafness-cleft palate syndrome" + "obsolete_complement component 3 deficiency" "phakomatosis pigmentovascularis" "Lilium regale" "Alar cartilages hypoplasia - coloboma - telecanthus" @@ -18069,8 +18069,8 @@ "thyroid hypoplasia" "tRNA-splicing endonuclease subunit Sen34" "AG11513" - "HOMA-IR" "3-Indolepropionic acid to alpha-Linolenic acid (C18:3n3) ratio" + "HOMA-IR" "interleukin-3 receptor subunit alpha measurement" "heat shock protein beta-1 measurement"@en "gait measurement" @@ -18206,8 +18206,8 @@ "parietal foramina 2" "immature CD8_alpha-low Langerhans cell" "octadecanedioate measurement" - "uncharacterized protein KIAA0040 measurement" "obsolete_adrenogenital syndrome" + "uncharacterized protein KIAA0040 measurement" "spermatogenic failure 26" "Streptococcus suis" "Waardenburg syndrome type 2E" @@ -18233,8 +18233,8 @@ "EPHB4-associated vascular malformation spectrum" "obsolete_posterior lateral line system" "obsolete_22q11.2 deletion syndrome" - "obsolete_incontinentia pigmenti achromians" "childhood trauma measurement" + "obsolete_incontinentia pigmenti achromians" "D,L-2-hydroxyglutaric aciduria" "thyrocerebrorenal syndrome" "DNA ligase IV deficiency" @@ -18304,15 +18304,15 @@ "Spermophilus tridecemlineatus" "synaptotagmin-1" "ribosomal protein S6 kinase beta-1" - "Alpha-thalassemia - X-linked intellectual disability syndrome" "ubiquitin-like domain-containing CTD phosphatase 1" + "Alpha-thalassemia - X-linked intellectual disability syndrome" "brevican core protein measurement" "primary cutaneous lymphoma" "presumptive rhombomere 7" "obsolete_severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" "MT2 cell" - "mitofusin-1" "L-2-aminobutyrate" + "mitofusin-1" "sulcal opening distance"@en "DU 145" "plasma clozapine measurement" @@ -18331,10 +18331,10 @@ "obsolete_Vitamin B12-unresponsive methylmalonic acidemia" "X-linked intellectual disability - spastic quadriparesis" "A172" - "hemorrhagic stroke"@en "post-operative sensory disturbance" "spinal muscular atrophy-progressive myoclonic epilepsy syndrome" "acquired mineral metabolism disease" + "hemorrhagic stroke"@en "klotho" "N-desmethyltoremifene measurement" "level of protein WFDC11 in blood serum" @@ -18362,9 +18362,9 @@ "obsolete_primary segmental branch primordium" "ADAMTS13 measurement" "cardiovascular measurement" + "nasal cavity lymphoma" "obsolete disorder of retroperitoneum" "GM17214" - "nasal cavity lymphoma" "obsolete_prootic" "low grade glioma" "ILSXISS50/TejJ" @@ -18374,8 +18374,8 @@ "RC-K8" "Rib fusion" "Cucumber mosaic virus" - "B-cell neoplasm" "DNA repair protein XRCC4 measurement" + "B-cell neoplasm" "level of lymphocyte function-associated antigen 3 in blood serum" "Mitral stenosis" "Colletotrichum graminicola" @@ -18446,9 +18446,9 @@ "X-11849 measurement" "butyrophilin subfamily 1 member A1" "endocervix" + "Thymoma Type AB" "axon guidance" "vitelliform macular dystrophy 2" - "Thymoma Type AB" "CD56-negative, CD161-positive immature natural killer cell, human" "ciliary dyskinesia, primary, 45" "high output heart failure" @@ -18478,9 +18478,9 @@ "obsolete_hereditary palmoplantar keratoderma, Gamborg-Nielsen type" "GATA zinc finger domain-containing protein 1" "adenocarcinoma in situ" - "non-distal monosomy 12q" "mandibular hypoplasia-deafness-progeroid syndrome" "nucleate erythrocyte" + "non-distal monosomy 12q" "obsolete_inner ear structure" "obsolete_cambium" "eunuchism" @@ -18506,8 +18506,8 @@ "blepharocheilodontic syndrome" "Fc receptor-like protein 1" "level of TraB domain-containing protein in blood serum" - "atazanavir measurement" "bud" + "atazanavir measurement" "Gastrointestinal inflammation" "obsolete_congenital primary megaureter, refluxing form" "acute dacryoadenitis" @@ -18544,8 +18544,8 @@ "Cementoma" "deltoid" "collectin-10" - "acidosis" "interferon alpha/beta receptor 1 measurement" + "acidosis" "spermatogenic failure 20" "exudative vitreoretinopathy" "short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis" @@ -18688,8 +18688,8 @@ "neuron-specific vesicular protein calcyon" "methylmalonic aciduria and homocystinuria type cblF" "metformin measurement" - "level of triggering receptor expressed on myeloid cells 2 in blood serum" "obsolete_sensory nervous system primordium" + "level of triggering receptor expressed on myeloid cells 2 in blood serum" "X-10395 measurement" "N,N,N-trimethyl-5-aminovalerate measurement" "BSC-40" @@ -18716,15 +18716,15 @@ "complement C1q subcomponent subunit C measurement" "inborn error of immunity" "level of protein phosphatase 1 regulatory subunit 29 in blood serum" - "cholelithiasis" "X-17685 measurement" + "cholelithiasis" "visceral Leishmaniasis" "MLS 2645-94" "level of SAGA-associated factor 29 in blood serum" "hypertrophic cardiomyopathy 25" "cAMP-dependent protein kinase type II-beta regulatory subunit" - "overall survival" "non-alcoholic fatty liver disease severity measurement" + "overall survival" "permanent neonatal diabetes mellitus" "level of phosphatidylinositol 3-kinase catalytic subunit type 3 in blood serum" "ras-related protein Rab-27B measurement" @@ -18756,8 +18756,8 @@ "obsolete_colonic atresia" "infarction" "level of dehydrogenase/reductase SDR family member 6 in blood serum" - "Pelizaeus-Merzbacher disease in female carriers" "gSELEX-Seq" + "Pelizaeus-Merzbacher disease in female carriers" "obsolete type 1 interferonopathy" "hydroxycarboxylic acid receptor 2" "histone-lysine N-methyltransferase SETD2 measurement" @@ -18770,8 +18770,8 @@ "brain development" "Chorioretinal lacunae" "level of TLD domain-containing protein 2 in blood serum" - "level of bifunctional polynucleotide phosphatase/kinase in blood serum" "obsolete_qualitative or quantitative defects of merosin" + "level of bifunctional polynucleotide phosphatase/kinase in blood serum" "3-Indolepropionic acid to S-Sulfo-L-cysteine ratio" "interleukin-34 measurement" "triglyceride change measurement" @@ -18807,8 +18807,8 @@ "bovine respiratory disease complex" "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" "substance-related disorder" - "obsolete_Gorlin-Chaudhry-Moss syndrome" "GM17242" + "obsolete_Gorlin-Chaudhry-Moss syndrome" "level of serine protease HTRA1 in blood serum" "level of aspartyl/asparaginyl beta-hydroxylase in blood serum" "Infantile dystonia-parkinsonism" @@ -18843,8 +18843,8 @@ "Melkersson-Rosenthal syndrome" "chronic eosinophilic pneumonia" "spitz nevus" - "unilateral retinoblastoma" "level of tyrosine-protein kinase Mer in blood serum" + "unilateral retinoblastoma" "obsolete_multiple metaphyseal dysplasia" "ethmoidal sinus neoplasm" "X12442--5,8-tetradecadienoate measurement" @@ -18875,9 +18875,9 @@ "level of lysosome-associated membrane glycoprotein 1 in blood serum" "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement" "CS57854" - "obsolete_seq library selection" "uncharacterized protein KIAA2013 measurement" "hereditary elliptocytosis" + "obsolete_seq library selection" "regenerating fin" "geotrichosis" "glycoprotein change measurement" @@ -18984,8 +18984,8 @@ "isolated congenital microcephaly" "X-linked mandibulofacial dysostosis" "Metaplastic Meningioma" - "gastric triacylglycerol lipase measurement" "sci-CAR" + "gastric triacylglycerol lipase measurement" "17alpha-ethynylestradiol" "obsolete_hemoglobin C disease" "spotted antibody reporter" @@ -19056,11 +19056,11 @@ "phosphatidylcholine acyl-alkyl C42:3 measurement" "autosomal dominant myoglobinuria" "Geobacillus sp. E263" + "N-hexadecanoylpyrrolidine measurement" "childhood testicular mixed germ cell cancer" "glycoprotein endo-alpha-1,2-mannosidase" "papillary adenoma" "transcription initiation factor TFIID subunit 10" - "N-hexadecanoylpyrrolidine measurement" "lung capillary endothelial cell"@en "sparganosis" "level of protein WFDC13 in blood serum" @@ -19087,9 +19087,9 @@ "tripartite motif-containing protein 55" "obsolete_X-linked intellectual disability, Stocco dos Santos type" "milliliter per kilogram" + "anterior uveitis" "level of peroxisomal carnitine O-octanoyltransferase in blood serum" "life expectancy" - "anterior uveitis" "mucin-producing carcinoma" "GM17217" "spinocerebellar ataxia type 17" @@ -19142,8 +19142,8 @@ "spondylocostal dysostosis-anal and genitourinary malformations syndrome" "obsolete_lysosomal acid lipase deficiency" "kallikrein-4 measurement" - "chromosome 3q29 microdeletion syndrome" "combined oxidative phosphorylation deficiency 51" + "chromosome 3q29 microdeletion syndrome" "nuclear pore complex-interacting protein family member B3" "Thymoma Type B3" "level of neuromedin-S in blood serum" @@ -19167,8 +19167,8 @@ "short day length regimen" "gastroesophageal junction adenocarcinoma" "atrial fibrillation, familial, 10" - "overweight body mass index status" "obsolete_apical shoot meristem" + "overweight body mass index status" "endothelial differentiation-related factor 1" "posterior cortical atrophy" "presumptive rhombomere 8" @@ -19267,12 +19267,12 @@ "familial isolated arrhythmogenic ventricular dysplasia, biventricular form" "dodecadienoate (12:2) measurement" "congenital primary megaureter" - "thrombin generation potential measurement" "hand-foot-genital syndrome" "obsolete_floor plate rhombomere 5" "retinitis pigmentosa 32" "forelimb zeugopod" "level of phosphatidylinositol 5-phosphate 4-kinase type-2 beta in blood serum" + "thrombin generation potential measurement" "angiomotin" "non-small cell lung carcinoma" "Hyperandrogenism due to cortisone reductase deficiency" @@ -19429,8 +19429,8 @@ "Papio anubis" "megacystis-microcolon-intestinal hypoperistalsis syndrome" "sweat gland disease" - "obsolete_adactyly of foot, bilateral" "methylmalonic aciduria and homocystinuria type cblC" + "obsolete_adactyly of foot, bilateral" "obsolete_ventral sensory complex primordium" "obsolete_X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" "X-10429 measurement" @@ -19618,12 +19618,12 @@ "Chondroid Chordoma" "alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B measurement" "obsolete_central polydactyly of fingers, unilateral" - "potassium deficiency" "vulvar leiomyoma" "renal hypoplasia, bilateral" "triacylglycerol 48:0" - "Malignant Bone Neoplasm" + "potassium deficiency" "C3H10T1/2" + "Malignant Bone Neoplasm" "level of ERO1-like protein beta in blood serum" "immunodeficiency 25" "allergic respiratory disease" @@ -19632,10 +19632,10 @@ "level of BAG family molecular chaperone regulator 5 in blood serum" "axon" "Posterior polar cataract" - "X-12038 measurement" "lichen planus, familial" "insulin-like growth factor-binding protein complex acid labile chain" "T3 B cell" + "X-12038 measurement" "central hypoventilation syndrome, late-onset"@en "SiMSen-Seq" "level of DnaJ homolog subfamily C member 12 in blood serum" @@ -19710,8 +19710,8 @@ "bronchopulmonary dysplasia" "Epileptic encephalopathy with global cerebral demyelination" "phospholipid scramblase 3" - "caspofungin" "A375" + "caspofungin" "level of SAM pointed domain-containing Ets transcription factor in blood serum" "monounsaturated fatty acids; 16:1, 18:1 measurement" "episodic ataxia type 1" @@ -19722,12 +19722,12 @@ "Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" "Actinobacillus pleuropneumoniae serovar 5" "obsolete_seq instrument model" - "peroxisomal membrane protein PEX14 measurement" "carbon dioxide" - "SPLASH" "level of oxytocin-neurophysin 1 in blood serum" "PWWP domain-containing protein 2B" + "peroxisomal membrane protein PEX14 measurement" "APOBEC1 complementation factor" + "SPLASH" "Broad toe" "obsolete_Curry-Jones syndrome" "Progressive ventriculomegaly" @@ -19768,8 +19768,8 @@ "adenine phosphoribosyltransferase deficiency" "amygdala" "X-linked cerebral adrenoleukodystrophy" - "obsolete_partial deletion of the long arm of chromosome 4" "level of nuclear inhibitor of protein phosphatase 1 in blood serum" + "obsolete_partial deletion of the long arm of chromosome 4" "Microcephaly - deafness - intellectual disability" "gigaxonin measurement" "nucleus accumbens volume" @@ -19787,8 +19787,8 @@ "embryonic anal pad" "spina bifida cystica" "Constitutional deficiency anemia" - "obsolete_response to zileuton" "optimization design" + "obsolete_response to zileuton" "multiple intestinal atresia" "Thrombophlebitis" "head injury" @@ -19833,9 +19833,9 @@ "level of pleckstrin homology domain-containing family B member 1 in blood serum" "Thymoma Type B1" "developmental stage" - "mild heart failure" "level of glycylpeptide N-tetradecanoyltransferase 2 in blood serum" "Rajab interstitial lung disease with brain calcifications 1" + "mild heart failure" "cardia cancer" "event-related brain oscillation" "indolin-2-one measurement" @@ -19859,21 +19859,21 @@ "phosphorus atom" "salpingitis" "obsolete_hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" - "regulation of pH" "obsolete_HMEC S1" + "regulation of pH" "North Korea" "glycocholate" "fascioloidiasis" - "LS 180" "monosomy 13q34" "age-related macular degeneration" "lateral shoot meristem" + "LS 180" "intestinal endoderm" "Stargardt disease 4" "EGF-like repeat and discoidin I-like domain-containing protein 3" "genomic DNA" - "tonsillar macrophage" "Rare genetic refraction anomaly" + "tonsillar macrophage" "C57BL/10J"@en "pontocerebellar hypoplasia type 13" "eosinophil-derived neurotoxin measurement"@en @@ -19965,14 +19965,14 @@ "keratin-associated protein 2-4 measurement" "hereditary spastic paraplegia 45" "Aspergillus oryzae" + "obsolete_Leber plus disease" "obsolete_Alpha delta granule deficiency" "obsolete_cingulate cortex" - "obsolete_Leber plus disease" "Camptosynpolydactyly, complex" "cysteine-rich secretory protein LCCL domain-containing 2" "obsolete_Ehlers-Danlos syndrome due to tenascin-X deficiency" - "CD4-negative, CD8-negative type I NK T cell secreting interleukin-4" "renal afferent arteriole" + "CD4-negative, CD8-negative type I NK T cell secreting interleukin-4" "signal-regulatory protein beta-1" "alkaline ceramidase 3 deficiency" "level of SHC-transforming protein 4 in blood serum" @@ -20152,9 +20152,9 @@ "TERV-AntiSenseB56" "fructose-bisphosphate aldolase measurement" "familial bicuspid aortic valve" - "obsolete_mucolipidosis type IV" "PK-59" "agammaglobulinemia 7, autosomal recessive" + "obsolete_mucolipidosis type IV" "cardiac ventricle" "Picea mariana" "level of ribonuclease-like protein 10 in blood serum" @@ -20177,9 +20177,9 @@ "retinal ganglion" "oral opening" "epithelial recurrent erosion dystrophy" + "obsolete_pyruvate dehydrogenase deficiency" "external carotid artery" "STT3A-congenital disorder of glycosylation" - "obsolete_pyruvate dehydrogenase deficiency" "childhood-onset autosomal recessive myopathy with external ophthalmoplegia" "loxtidine" "age at medical procedure"@en @@ -20276,8 +20276,8 @@ "Leuconostoc pseudomesenteroides" "sulfite oxidase deficiency due to molybdenum cofactor deficiency type A" "level of ephrin type-A receptor 4 in blood serum" - "colorectal leiomyoma" "level of neuropilin and tolloid-like protein 2 in blood serum" + "colorectal leiomyoma" "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 measurement" "deoxycytidine kinase" "adult oligodendroglioma" @@ -20301,9 +20301,9 @@ "receptacle" "parkinsonian-pyramidal syndrome" "Canavan disease" - "obsolete_14q11.2 microdeletion syndrome" "hyperinsulinemic hypoglycemia" "protein modification process" + "obsolete_14q11.2 microdeletion syndrome" "obsolete_fundus albipunctatus" "tumor susceptibility gene 101 protein" "Cayman type cerebellar ataxia" @@ -20326,8 +20326,8 @@ "Pectobacterium carotovorum" "X-23665 measurement" "Chondroid Hamartoma" - "Induced vaginal delivery" "cysts and fistulae of the face and oral cavity" + "Induced vaginal delivery" "Liang-Wang syndrome" "unilateral multicystic dysplastic kidney" "obesity" @@ -20564,8 +20564,8 @@ "pineal region meningioma" "level of prostaglandin reductase 2 in blood serum" "X-12850 measurement" - "chromosome 2q31.1 duplication syndrome" "intentional overdose"@en + "chromosome 2q31.1 duplication syndrome" "ichthyosis vulgaris" "hepatocellular clear cell carcinoma" "synaptotagmin-like protein 1 measurement" @@ -20582,8 +20582,8 @@ "Salmonella enterica subsp. enterica serovar Saintpaul" "level of ubiquitin-conjugating enzyme E2 W in blood serum" "obsolete_Distal myopathy with early respiratory muscle involvement" - "obsolete_Malpighian tubule primordium" "GM17757" + "obsolete_Malpighian tubule primordium" "obsolete_interleukin-12 subunit B measurement" "17alpha-hydroxypregnenolone 3-sulfate measurement" "CHO-K1" @@ -20682,12 +20682,12 @@ "benign concentric annular macular dystrophy" "Thyroglossal Duct Cyst" "triokinase and FMN cyclase deficiency syndrome" + "obsolete_B4GALT1-CDG" "childhood apraxia of speech" "GM12144" "acute eustachian salpingitis" "telomere" "aldosterone measurement"@en - "obsolete_B4GALT1-CDG" "tert-butyl hydroperoxide" "ribonuclease K6" "myofibrillar myopathy 2" @@ -20791,8 +20791,8 @@ "upper digestive tract disorder" "synaptic vesicle glycoprotein 2A measurement" "obsolete_palpebral sebaceous gland tumor" - "level of interferon alpha-8 in blood serum" "genome" + "level of interferon alpha-8 in blood serum" "obsolete autosomal dominant hereditary axonal motor and sensory neuropathy" "Ehlers-Danlos syndrome, kyphoscoliotic type 1" "2-hydroxyglutarate measurement"@en @@ -20800,8 +20800,8 @@ "autosomal recessive disease" "obsolete_hyperphalangy, bilateral" "obsolete_qualitative or quantitative defects of desmin" - "level of testis-specific serine/threonine-protein kinase 1 in blood serum" "trypsin-1 measurement" + "level of testis-specific serine/threonine-protein kinase 1 in blood serum" "familial sick sinus syndrome" "syndromic craniosynostosis" "Gout" @@ -20846,8 +20846,8 @@ "origin recognition complex subunit 6" "poikiloderma with neutropenia" "obsolete_cerebral hemisphere" - "IgG digalactosylation measurement" "amyloid beta A4 precursor protein-binding family B member 2 measurement" + "IgG digalactosylation measurement" "beta-hydroxyisovalerate measurement" "arachidonic acid measurement" "Turner syndrome due to structural X chromosome anomalies" @@ -20856,11 +20856,11 @@ "neonatal diabetes mellitus with congenital hypothyroidism" "phosphatidylcholine diacyl C36:4 measurement" "obsolete_branchiogenic deafness syndrome" - "obsolete_iniencephaly" "indol-3-ylacetyl-myo-inositol L-arabinoside measurement" "insulin-like growth factor-binding protein 5 measurement" "level of adenylyltransferase and sulfurtransferase MOCS3 in blood serum" "Roussy-Levy syndrome" + "obsolete_iniencephaly" "Globozoospermia" "familial clubfoot due to PITX1 point mutation" "obsolete_congenital absence of upper arm and forearm with hand present" @@ -20957,18 +20957,18 @@ "hexanoylglutamine measurement" "obsolete_Gitelman syndrome" "vitamin B12- and folate-independent constitutional megaloblastic anemia" - "obsolete_2q24 microdeletion syndrome" "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 measurement" "prolyl hydroxylase EGLN3" "protein S100-A10" "brain oligodendroglioma" "HKB-11"@en "chronic hepatic porphyria" - "3-hydroxyisobutyrate measurement" + "obsolete_2q24 microdeletion syndrome" "jaw disease" "level of pre-mRNA-splicing regulator WTAP in blood serum" "level of sorting nexin-27 in blood serum" "spindle cell nevus" + "3-hydroxyisobutyrate measurement" "obsolete chemically-induced disorder" "complement C1r subcomponent-like protein measurement" "level of nucleotidyltransferase MB21D2 in blood serum" @@ -20996,9 +20996,9 @@ "surgical shock" "CS57867" "branchiostegal ray 3" + "ONT MinION" "level of GDNF family receptor alpha-like in blood serum" "embryonic central brain glial cell" - "ONT MinION" "glucosephosphate dehydrogenase deficiency" "obsolete_mucopolysaccharidosis type 1" "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia" @@ -21049,8 +21049,8 @@ "morbid obesity" "level of hepatocyte cell adhesion molecule in blood serum" "xyloside xylosyltransferase 1" - "Schrenkiella parvula" "Huntington disease" + "Schrenkiella parvula" "level of BET1-like protein in blood serum" "juvenile dermatomyositis" "obsolete_multiple intestinal atresia" @@ -21067,8 +21067,8 @@ "V-set and immunoglobulin domain-containing protein 2" "bronchiolitis obliterans" "qualitative or quantitative defects of plectin" - "Acromesomelic dysplasia, Grebe type" "obsolete_sympathetic nervous system" + "Acromesomelic dysplasia, Grebe type" "CDGSH iron-sulfur domain-containing protein 2 measurement" "NSAID use measurement" "E3 ubiquitin-protein ligase Itchy" @@ -21166,8 +21166,8 @@ "muscular atrophy" "spastic ataxia" "obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature" - "Craniosynostosis - intracranial calcifications" "Acheiropodia" + "Craniosynostosis - intracranial calcifications" "zinc finger protein 23 measurement" "obsolete_embryonic Malpighian tubule tip cell" "obsolete constriction rings syndrome" @@ -21178,8 +21178,8 @@ "glucagon-like peptide 1 receptor measurement" "tertiary syphilis" "46,XX gonadal dysgenesis" - "neonatal systemic lupus erythematosus" "pharyngula prim-5" + "neonatal systemic lupus erythematosus" "level of Phosphatidylcholine (O-16:0_20:4) in blood serum" "inflammatory bowel disease" "Poirier-Bienvenu neurodevelopmental syndrome" @@ -21257,8 +21257,8 @@ "Clostridium baratii" "endothelin-2" "laminopathy type Decaudain-Vigouroux" - "homeobox protein TGIF2LX" "plexin-A1 measurement" + "homeobox protein TGIF2LX" "obsolete congenital absence/hypoplasia of fingers excluding thumb, bilateral" "shc-transforming protein 1 measurement" "PEO1" @@ -21340,8 +21340,8 @@ "leukemia, acute lymphoblastic, susceptibility to, 3" "GM15850" "high mobility group protein 20A" - "sodium chloride" "granular corneal dystrophy type II" + "sodium chloride" "level of BRCA1-associated ATM activator 1 in blood serum" "Stuttering" "level of E3 ubiquitin-protein ligase Itchy in blood serum" @@ -21404,8 +21404,8 @@ "cystoid macular edema" "obsolete_Thyroid Gland Carcinoma" "Desmoplastic Ameloblastoma" - "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant" "CD27-low, CD11b-high natural killer cell, mouse" + "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant" "Thiel-Behnke corneal dystrophy" "GM12145" "1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride" @@ -21450,8 +21450,8 @@ "mild phenylketonuria" "endometrioid stromal and related neoplasms" "Osteoporosis - macrocephaly - blindness - joint hyperlaxity" - "2-hydroxypalmitate measurement"@en "1-stearoyl-2-arachidonoyl-GPC (18:0/20:4) measurement" + "2-hydroxypalmitate measurement"@en "vitamin B12-responsive methylmalonic acidemia" "obsolete_juvenile neuronal ceroid lipofuscinosis" "trypsin-3 measurement" @@ -21479,8 +21479,8 @@ "atrial fibrillation, familial, 3" "obsolete_congenital fiber-type disproportion myopathy" "cytokine receptor-like factor 1" - "Genetic vitreous-retinal disease" "smooth muscle cancer" + "Genetic vitreous-retinal disease" "hereditary methemoglobinemia" "Sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0) measurement" "hypermobility syndrome" @@ -21529,9 +21529,9 @@ "squamous carcinoma in situ" "autosomal recessive nemaline myopathy"@en "carbonyl reductase [NADPH] 3 measurement" - "endoplasmic reticulum lectin 1 measurement" "DL-P-hydroxyphenyllactic acid measurement" "SUDHL6" + "endoplasmic reticulum lectin 1 measurement" "short-rib thoracic dysplasia 7/20 with polydactyly, digenic" "obsolete_presumptive brain" "acyl-CoA dehydrogenase 9 deficiency" @@ -21567,8 +21567,8 @@ "obsolete_strain factor" "level of protocadherin alpha-7 in blood serum" "Caplan's syndrome" - "multiple epidermal growth factor-like domains protein 10 measurement" "type B pancreatic cell" + "multiple epidermal growth factor-like domains protein 10 measurement" "Peripheral neuropathy" "lethal Kniest-like dysplasia" "level of flap endonuclease 1 in blood serum" @@ -21597,8 +21597,8 @@ "1-palmitoyl-2-linoleoyl-GPI (16:0/18:2) measurement" "SHEF-1" "Illumina Genome Analyzer" - "bilirubin metabolism disease" "level of protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 in blood serum" + "bilirubin metabolism disease" "chromosome 5p13 duplication syndrome" "obsolete_SLC35A2-CDG" "non-obstructive coronary artery disease" @@ -21614,8 +21614,8 @@ "obsolete_cortex of kidney" "immunodeficiency 31B" "Autosomal recessive infantile hypercalcemia" - "GM14408" "level of transcriptional adapter 1-like protein in blood serum" + "GM14408" "obsolete_isolated encephalocele" "MARVEL domain-containing protein 2" "cytoplasmic vesicle membrane" @@ -21773,8 +21773,8 @@ "adrenal suppression measurement" "Kaposi's sarcoma" "obsolete_rhizomelic chondrodysplasia punctata type 2" - "obsolete_congenital short bowel syndrome" "collagen alpha-1(I) chain" + "obsolete_congenital short bowel syndrome" "D04 cell" "Enchytraeus albidus" "obsolete_seborrhea-like dermatitis with psoriasiform elements" @@ -21897,10 +21897,10 @@ "obsolete_mosaic trisomy 8" "openness measurement" "partial duplication of chromosome 8" + "obsolete_Tessier number 5 facial cleft" "C-X-C motif chemokine 11 measurement" "obsolete_endothelium" "SLC35A1-congenital disorder of glycosylation" - "obsolete_Tessier number 5 facial cleft" "Escherichia coli K-12" "margarate" "synaptonemal complex central element protein 1-like" @@ -21916,9 +21916,9 @@ "vulva verrucous carcinoma" "obsolete_parasympathetic nervous system" "GM15236" - "autosomal dominant retinitis pigmentosa"@en "fasting" "GM17155" + "autosomal dominant retinitis pigmentosa"@en "non-grapefruit juice consumption measurement" "U-251 MG" "cholesterol in small VLDL measurement " @@ -21968,8 +21968,8 @@ "phosphatidylinositol 3-kinase catalytic subunit type 3" "autosomal recessive spinocerebellar ataxia 15" "syntaxin-1B measurement" - "DN1 thymic pro-T cell" "right atrial fractional area change measurement"@en + "DN1 thymic pro-T cell" "derlin-1" "neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures" "postaxial polydactyly type A, unilateral" @@ -22043,10 +22043,10 @@ "purine ribonucleoside monophosphate metabolic process" "secondary dysgenetic glaucoma" "Autosomal recessive spastic paraplegia type 23" - "Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature" "lumican measurement" "phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase pten measurement" "macrophage scavenger receptor types I and II measurement" + "Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature" "familial isolated arrhythmogenic right ventricular dysplasia" "HER2 negative breast carcinoma" "autosomal recessive limb-girdle muscular dystrophy type 2B" @@ -22077,10 +22077,10 @@ "neuronal acetylcholine receptor subunit alpha-5" "cutaneous adenocystic carcinoma" "level of FAS-associated factor 2 in blood serum" - "leg injury" "colorectal cancer, susceptibility to, 1" "embryonic proventriculus outer layer" "level of spindlin-3 in blood serum" + "leg injury" "opioid dependence" "obsolete autosomal recessive axonal hereditary motor and sensory neuropathy" "hyperpigmentation with or without hypopigmentation, familial progressive" @@ -22125,8 +22125,8 @@ "Familial renal amyloidosis due to Apolipoprotein AI variant" "Dickeya dadantii" "response to ketogenic diet" - "Diffuse Melanocytosis" "syndromic X-linked intellectual disability Najm type" + "Diffuse Melanocytosis" "kallikrein-6" "common variable immunodeficiency" "CD27-high, CD11b-low natural killer cell, mouse" @@ -22181,11 +22181,11 @@ "classic phenylketonuria" "mediastinal soft tissue cancer" "orofacial cleft" + "obsolete_mitochondrial DNA depletion syndrome, myopathic form" + "obsolete_dystrophic epidermolysis bullosa, nails only" "4-hydroxyhippurate measurement"@en "congenital patella dislocation, unilateral" - "obsolete_dystrophic epidermolysis bullosa, nails only" "breast synovial sarcoma" - "obsolete_mitochondrial DNA depletion syndrome, myopathic form" "ulnar/fibula ray defect-brachydactyly syndrome" "level of deleted in malignant brain tumors 1 protein in blood serum" "organic heterocyclic compound" @@ -22218,8 +22218,8 @@ "cold temperature regimen" "triazolam" "PEHO syndrome" - "abdominal adipose tissue measurement" "interdigitating dendritic cell sarcoma" + "abdominal adipose tissue measurement" "Rep-Seq" "renal pelvis squamous cell carcinoma" "Fusarium sp." @@ -22233,8 +22233,8 @@ "obsolete_aprosencephaly cerebellar dysgenesis" "estrogen" "LP.13 thirteen leaves visible stage" - "Death in infancy" "obsolete_upper limb mesomelic dysplasia" + "Death in infancy" "AG04147" "antileukoproteinase measurement" "N-acetylputrescine measurement" @@ -22315,8 +22315,8 @@ "chromosome 17q11.2 deletion syndrome, 1.4Mb" "proximal" "Archaea" - "Incomplete partition of the cochlea type II" "synaptotagmin-3 measurement" + "Incomplete partition of the cochlea type II" "MAM domain-containing protein 2" "gamma-Glu-Val" "WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement" @@ -22356,12 +22356,12 @@ "obsolete_macrodactyly of fingers, unilateral" "EUFA121"@en "Pharyngeal Adenoid Cystic Carcinoma" - "prenylcysteine oxidase-like measurement" "level of NEDD4-like E3 ubiquitin-protein ligase WWP2 in blood serum" + "prenylcysteine oxidase-like measurement" "microangiopathy and leukoencephalopathy, pontine, autosomal dominant" "COP9 signalosome complex subunit 2 measurement" - "X-14626 measurement" "gestational diabetes" + "X-14626 measurement" "tyrosine metabolic process" "pancreatic stellate cell" "17q21.31 microdeletion syndrome" @@ -22487,16 +22487,16 @@ "Biliary atresia" "Rare pervasive developmental disorder" "obsolete_hereditary angioedema type 1" + "obsolete_otomandibular dysplasia" "GM00144" "Austrofundulus limnaeus" - "obsolete_otomandibular dysplasia" - "Abnormal occipital bone morphology" "congenital muscular dystrophy with cerebellar involvement" + "Abnormal occipital bone morphology" "neurexin-3-beta measurement" "mammalian vulva" "Rare male infertility due to adrenal disorder of genetic origin" - "isoursodeoxycholate sulfate (2) measurement" "hypopigmentation of the skin" + "isoursodeoxycholate sulfate (2) measurement" "CAL62" "transforming growth factor-alpha measurement" "apolipoprotein E measurement" @@ -22681,10 +22681,10 @@ "Rorippa amphibia" "level of spindlin-1 in blood serum" "level of butyrophilin subfamily 2 member A2 in blood serum" - "Cerebral hypoplasia" + "syntaxin-6 measurement" "HCS library protocol" + "Cerebral hypoplasia" "Aedes albopictus" - "syntaxin-6 measurement" "urgency urinary incontinence" "insect dorsal imaginal precursor" "naive thymus-derived CD4-positive, alpha-beta T cell" @@ -22692,8 +22692,8 @@ "postaxial polydactyly type A, bilateral" "immunodeficiency 72 with autoinflammation" "linear atrophoderma of Moulin" - "cancer-related condition" "anterior chamber depth measurement" + "cancer-related condition" "interleukin-31" "level of twinfilin-2 in blood serum" "signal transducer and activator of transcription 3 measurement" @@ -22721,8 +22721,8 @@ "Epstein-Barr virus infection" "patterned dystrophy of the retinal pigment epithelium" "E3 ubiquitin-protein ligase ZFP91" - "X-21658 measurement" "obsolete_central areolar choroidal dystrophy" + "X-21658 measurement" "SHP77" "DnaJ homolog subfamily B member 14 measurement" "obsolete hereditary dentin defect" @@ -22811,8 +22811,8 @@ "GM17284" "Thyroid Gland Hyalinizing Trabecular Tumor" "Digestive System Adenoma" - "cerebrospinal fluid otorrhea" "level of non-POU domain-containing octamer-binding protein in blood serum" + "cerebrospinal fluid otorrhea" "arginine measurement"@en "GM12154" "morphine dependence" @@ -22837,8 +22837,8 @@ "IST1 homolog" "obsolete_ovarian follicle stage II" "obsolete syndromic retinitis pigmentosa" - "obsolete_hyperostosis cranialis interna" "genomic data" + "obsolete_hyperostosis cranialis interna" "genetically isolated population"@en "level of tyrosine-protein phosphatase non-receptor type 9 in blood serum" "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" @@ -22854,9 +22854,9 @@ "hereditary spastic paraplegia 34" "infantile bilateral striatal necrosis" "Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells" + "obsolete_lateral meningocele syndrome" "level of protein BTG4 in blood serum" "superoxide dismutase [Cu-Zn]" - "obsolete_lateral meningocele syndrome" "1-stearoyl-2-arachidonoyl-GPS (18:0/20:4) measurement" "renal glomerulus" "obsolete_disorder of mineral absorption and transport" @@ -22868,10 +22868,10 @@ "X-12990--docosapentaenoic acid n6-DPA measurement" "Cervus elaphus hispanicus" "syntaxin-10" - "LP.09 nine leaves visible" - "qualitative" "cervical incompetence" + "LP.09 nine leaves visible" "level of coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial in blood serum" + "qualitative" "minocycline" "translin" "obsolete_primary bone dysplasia with increased bone density" @@ -22951,13 +22951,13 @@ "obsolete_von Willebrand disease type 2A" "deep cervical thymus" "phosphatidylcholine diacyl C38:0 measurement" - "memory performance" "light" "Bartholin gland adenocarcinoma" "pulmonary artery choriocarcinoma" - "Gr1-high myeloid suppressor cell" + "memory performance" "triacylglycerol 48:1" "level of receptor of activated protein C kinase 1 in blood serum" + "Gr1-high myeloid suppressor cell" "level of homeobox protein TGIF2LY in blood serum" "MHC class II histocompatibility antigen beta chain DRB3" "obsolete_branchial muscle" @@ -23053,8 +23053,8 @@ "childhood eosinophilic esophagitis" "X-14632 measurement" "Vgamma1.1-positive, Vdelta6.3-negative thymocyte" - "RNA-binding protein 3 measurement" "level of protein tyrosine phosphatase type IVA 2 in blood serum" + "RNA-binding protein 3 measurement" "obsolete_Coats disease" "granulocyte-macrophage colony-stimulating factor receptor subunit alpha measurement" "cellular localization" @@ -23124,8 +23124,8 @@ "nucleic acid sequencing protocol" "adenoma" "uroporphyrinogen decarboxylase" - "obsolete_Rare genetic gynecological and obstetrical diseases" "1-oleoyl-2-eicosapentaenoyl-GPC (18:1/20:5) measurement" + "obsolete_Rare genetic gynecological and obstetrical diseases" "triglycerides in large VLDL measurement" "duplication" "pyrimidine nucleobase metabolic process" @@ -23203,9 +23203,9 @@ "response to radiation" "cell division control protein 42" "stromal cell-derived factor 2-like protein 1" + "carboxypeptidase A4 measurement" "facial asymmetry measurement" "sequestosome-1" - "carboxypeptidase A4 measurement" "renal pelvis papillary urothelial carcinoma" "fungal meningitis" "platelet glycoprotein ib alpha chain measurement" @@ -23233,8 +23233,8 @@ "N-acetylglucosamine measurement" "obsolete_familial hyperreninemic hypoaldosteronism type 2" "autoimmune disorder of musculoskeletal system" - "obsolete_partial trisomy/tetrasomy of chromosome 18" "tyrosine-protein kinase YES measurement" + "obsolete_partial trisomy/tetrasomy of chromosome 18" "obsolete_progressive familial intrahepatic cholestasis type 3" "spinocerebellar ataxia type 25" "combined malonic and methylmalonic acidemia" @@ -23263,11 +23263,11 @@ "TUBO" "aldehyde dehydrogenase, mitochondrial" "Proptosis" - "Leydig cell hypoplasia due to LHB deficiency" "level of chloride intracellular channel protein 4 in blood serum" "obsolete syndrome with limb malformations as a major feature" "Elevated diastolic blood pressure" "obsolete_ventral nerve cord" + "Leydig cell hypoplasia due to LHB deficiency" "myxothiazol" "eukaryotic translation initiation factor 4E" "Bm3 B cell" @@ -23297,9 +23297,9 @@ "obsolete sickle cell disease associated with an other hemoglobin anomaly" "quinoxyfen measurement" "insulin (human)" + "Intellectual disability - spasticity - ectrodactyly" "anuria" "aniridia-absent patella syndrome" - "Intellectual disability - spasticity - ectrodactyly" "spasmodic dystonia" "L-Valine measurement" "caudal division of the internal carotid artery" @@ -23382,8 +23382,8 @@ "C57BL/6NTac"@en "obsolete_hereditary arterial and articular multiple calcification syndrome" "SCLC-21H" - "phospholipids in HDL measurement " "E3 ubiquitin-protein ligase RNF34" + "phospholipids in HDL measurement " "TPC-1 " "level of RING finger protein 150 in blood serum" "obsolete_oligocone trichromacy" @@ -23422,9 +23422,9 @@ "segmentation 5-9 somites" "odontotrichomelic syndrome" "Autosomal dominant deafness-onychodystrophy syndrome" - "obsolete_spinocerebellar ataxia type 30" "myristoyl-linoleoyl-glycerol (14:0/18:2) [1] measurement" "cocaine- and amphetamine-regulated transcript protein" + "obsolete_spinocerebellar ataxia type 30" "teasterone" "hyperprolinemia type 1" "epidemic pleurodynia" @@ -23531,8 +23531,8 @@ "obsolete_familial sick sinus syndrome" "obsolete_Trichophyton megninii" "Xeroderma pigmentosum complementation group F" - "social domain measurement" "pneumocystosis" + "social domain measurement" "GPR143-related foveal hypoplasia" "epidermal nevus syndrome" "ezrin" @@ -23618,8 +23618,8 @@ "GM17235" "obsolete_pancreas primordium" "obsolete visceral malformation of the liver, biliary tract, pancreas or spleen" - "level of kelch-like protein 7 in blood serum" "inflammatory diarrhea" + "level of kelch-like protein 7 in blood serum" "Otitis media" "aortic malignant tumor" "MOMO syndrome" @@ -23664,9 +23664,9 @@ "Angioleiomyoma" "Familial renal amyloidosis due to fibrinogen A alpha-chain variant" "obsolete_congenital achiasma" - "male genital tuberculosis" "level of collagen alpha-2(XI) chain in blood serum" "3-ketoacyl-CoA thiolase, peroxisomal" + "male genital tuberculosis" "bitter beverage consumption measurement" "obstructive hydrocephalus" "Birt-Hogg-Dube syndrome" @@ -23685,8 +23685,8 @@ "Metabolic disease due to other fatty acid oxidation disorder" "peroxisome biogenesis disorder, complementation group 7"@en "obsolete_bone of lower extremity" - "insulin-resistance syndrome type A" "Familial cold urticaria" + "insulin-resistance syndrome type A" "primary biliary cirrhosis" "prolylproline measurement" "Smith-McCort dysplasia 1" @@ -23821,8 +23821,8 @@ "obsolete_Popov-Chang syndrome" "brain meninx" "maple syrup urine disease" - "5-hydroxylysine" "mediastinal lymph node" + "5-hydroxylysine" "congenital neutropenia-myelofibrosis-nephromegaly syndrome" "nail-patella syndrome" "phenylacetylcarnitine measurement" @@ -23837,12 +23837,12 @@ "obsolete_periventricular nodular heterotopia" "obsolete_maternally-inherited progressive external ophthalmoplegia" "obsolete_ichthyosis-cheek-eyebrow syndrome" + "tartronate (hydroxymalonate) measurement" "GM17850" "pleomorphic xanthoastrocytoma" - "tartronate (hydroxymalonate) measurement" "autosomal recessive degenerative and progressive cerebellar ataxia" - "Herpes Labialis" "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" + "Herpes Labialis" "thioredoxin reductase 1, cytoplasmic measurement" "microfibrillar-associated protein 2" "obsolete_otic lateral line neuromast" @@ -23907,9 +23907,9 @@ "rhabdomyosarcoma of the cervix uteri" "Histiocytic and Dendritic Cell Neoplasm" "KOPN-8 cell" - "alpha-linoleic acid measurement" "coiled-coil domain-containing protein 56" "hepatoerythropoietic porphyria" + "alpha-linoleic acid measurement" "pigmented paravenous retinochoroidal atrophy" "Conotruncal defect" "level of cold shock domain-containing protein E1 in blood serum" @@ -23969,15 +23969,15 @@ "protein Frey 1" "familial schizencephaly" "X-12718 measurement" - "Pseudomonas aeruginosa PA14 infection" "sickle cell-beta-thalassemia disease syndrome" + "Pseudomonas aeruginosa PA14 infection" "adipose macrophage" "X-11795 measurement" "SAYSvFN domain-containing protein 1 measurement" + "Sensory ataxic neuropathy - dysarthria - ophthalmoparesis" "obsolete_autosomal recessive optic atrophy, OPA7 type" "atrial fibrillation, familial, 12" "midbrain tectum" - "Sensory ataxic neuropathy - dysarthria - ophthalmoparesis" "MOLP-8" "UKE1" "obsolete_body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency" @@ -24003,17 +24003,17 @@ "level of C1GALT1-specific chaperone 1 in blood serum" "obsolete_NARP syndrome" "T1 tumor stage" - "fructose-1,6-bisphosphatase 1" "transforming acidic coiled-coil-containing protein 3" "SLIT and NTRK-like protein 2" - "meningeal neoplasm" "draxin" "AG07307" "uterine ligament" + "fructose-1,6-bisphosphatase 1" "level of Sterol ester (27:1/20:2) in blood serum" + "meningeal neoplasm" "hypokalemic tubulopathy and deafness" - "elementary body" "carboxypeptidase Z measurement" + "elementary body" "thigh muscle measurement"@en "phospholipids in very small VLDL measurement " "level of myeloid zinc finger 1 in blood serum" @@ -24028,10 +24028,10 @@ "obsolete rare hereditary disease with peripheral neuropathy" "Lauric acid measurement" "Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure" - "anal gland neoplasm" "tripartite motif-containing protein 3" - "primary qualitative or quantitative defects of alpha-dystroglycan" + "anal gland neoplasm" "acetyl-coenzyme A thioesterase" + "primary qualitative or quantitative defects of alpha-dystroglycan" "Anemonia viridis" "choroidal sclerosis" "centriolar satellite-associated tubulin polyglutamylase complex regulator 1" @@ -24080,10 +24080,10 @@ "sclerosing cholangitis" "GM12869" "X-23637 measurement" - "PEAT" "UV excision repair protein RAD23 homolog A" "musculo-skeletal system cell" "temperature" + "PEAT" "GM17808" "embryonic day 9" "dipeptidase 1" @@ -24101,8 +24101,8 @@ "tenosynovial giant cell tumor, diffuse type" "segmentation 10-13 somites" "level of protein unc-119 homolog B in blood serum" - "scutianine F measurement" "protein phosphatase 1 regulatory subunit 3G" + "scutianine F measurement" "Rhodococcus jostii RHA1" "amitrole" "level of membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 in blood serum" @@ -24114,9 +24114,9 @@ "X-11452 measurement" "obsolete_infantile-onset autosomal recessive nonprogressive cerebellar ataxia" "gamma-crystallin C" + "alpha-2,8-sialyltransferase 8F measurement" "level of adenylate kinase 4, mitochondrial in blood serum" "mucosal type mast cell" - "alpha-2,8-sialyltransferase 8F measurement" "X-04499--3,4-dihydroxybutyrate-to-C-glycosyltryptophan ratio" "hemangiopericytoma, malignant" "obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature" @@ -24190,8 +24190,8 @@ "nephronectin" "OSS" "outer mitochondrial transmembrane helix translocase" - "response to radioiodine" "obsolete_distal hereditary motor neuropathy" + "response to radioiodine" "level of butyrophilin-like protein 3 in blood serum" "antibody" "histidine-rich glycoprotein measurement" @@ -24241,8 +24241,8 @@ "Myotonia" "mitochondrial import inner membrane translocase subunit Tim10" "phosphoglycerate kinase 1 measurement" - "Clinodactyly of the 4th toe" "carotid atherosclerosis" + "Clinodactyly of the 4th toe" "X-linked cerebellar ataxia" "Lactococcus lactis subsp. hordniae" "antibacterial drug" @@ -24279,8 +24279,8 @@ "tubulin polyglutamylase complex subunit 2" "Tracheomalacia" "level of alpha-2,8-sialyltransferase 8F in blood serum" - "lung colloid adenocarcinoma" "nuclear envelope phosphatase-regulatory subunit 1 measurement" + "lung colloid adenocarcinoma" "level of tight junction protein ZO-1 in blood serum" "level of NAD-dependent deacetylase sirtuin-5 in blood serum" "Persistent open anterior fontanelle" @@ -24302,8 +24302,8 @@ "CA1 field of hippocampus" "obsolete syndromic renal or urinary tract malformation" "Keloid" - "phospholipase A and acyltransferase 4" "level of eukaryotic-type peptidyl-prolyl cis-trans isomerase C in blood serum" + "phospholipase A and acyltransferase 4" "Sandhoff disease" "obsolete_Alagille syndrome" "level of microtubule-associated protein RP/EB family member 2 in blood serum" @@ -24349,8 +24349,8 @@ "feeling miserable measurement" "response to placebo" "autosomal dominant cataract" - "Rare constitutional hemolytic anemia" "level of receptor-type tyrosine-protein phosphatase H in blood serum" + "Rare constitutional hemolytic anemia" "Angiolipoma" "indole-3-propionate measurement"@en "hair shaft" @@ -24620,8 +24620,8 @@ "pancreatic neuroendocrine tumor G1" "upstream stimulatory factor 2" "distal 22q11.2 microduplication syndrome" - "proplastid" "1-(1-enyl-palmitoyl)-2-palmitoyl-GPC (P-16:0/16:0) measurement" + "proplastid" "complement factor H-related protein 2 measurement" "sulfotransferase 6B1" "bringing up phlegm, sputum or mucus on most days, self-reported" @@ -24667,12 +24667,12 @@ "retroperitoneal lymphoma" "krueppel-like factor 4" "obsolete palpebral piliary tumor" - "hepatorenal syndrome" "Congenital muscular dystrophy type 1B" + "hepatorenal syndrome" "eye allergy" "Mild malformation of cortical development" - "cranial neural crest" "Catel-Manzke syndrome" + "cranial neural crest" "nasal cavity adenocarcinoma" "pilocytic astrocytoma" "autosomal recessive syndromic cerebellar ataxia" @@ -24782,8 +24782,8 @@ "trochanter bone mineral density"@en "obsolete_renal dysplasia" "obsolete_lumbosacral spina bifida cystica" - "Camptodactyly - taurinuria" "phospholipids in medium HDL measurement " + "Camptodactyly - taurinuria" "level of 12-hydroxy-5,8,10,14-eicosatetraenoic acid in blood plasma" "Salivary Gland Adenosquamous Carcinoma" "CD4-positive T-lymphocyte count" @@ -24818,9 +24818,9 @@ "spermatogenesis-associated protein 31D4 (human)" "sodium nitroprusside dihydrate measurement" "F4/80-negative adipose macrophage" - "Rare genetic neurological disorder" "X-11799 measurement" "ear" + "Rare genetic neurological disorder" "polyploid" "response to anti-tuberculosis drug" "obsolete_Hereditary persistence of fetal hemoglobin - sickle cell disease" @@ -24879,11 +24879,11 @@ "autoimmune thrombocytopenia" "Vitis sp. cv. 'Norton'" "Non-progressive cerebellar ataxia with intellectual disability" - "obsolete_myostatin-related muscle hypertrophy" "obsolete response to paclitaxel" + "obsolete_myostatin-related muscle hypertrophy" "Pleural Epithelioid Mesothelioma" - "2P-Seq" "cyclic nucleotide-gated olfactory channel" + "2P-Seq" "level of epidermal growth factor receptor in blood serum" "hypertrophic cardiomyopathy 7" "Norman-Roberts syndrome" @@ -24899,8 +24899,8 @@ "glycine" "nucleobase-containing small molecule metabolic process" "peptidyl-prolyl cis-trans isomerase-like 1" - "level of thioredoxin-related transmembrane protein 1 in blood serum" "parasitic eye infection" + "level of thioredoxin-related transmembrane protein 1 in blood serum" "renal tubular dysgenesis of genetic origin" "acetoacetyl-CoA synthetase" "Neisseria flavescens" @@ -25037,8 +25037,8 @@ "1q21.1 microdeletion syndrome" "rieske domain-containing protein" "level of collagen alpha-1(XV) chain in blood serum" - "ectonucleoside triphosphate diphosphohydrolase 2" "lysosomal acid lipase deficiency" + "ectonucleoside triphosphate diphosphohydrolase 2" "chromosome-defective micronuclei" "inborn errors of metabolism" "X-12261 measurement" @@ -25111,9 +25111,9 @@ "epidermolysis bullosa simplex due to plakophilin deficiency" "Schizoaffective disorder-bipolar type" "docosapentaenoic acid" + "triacylglycerol 56:6 measurement"@en "ubiquitin carboxyl-terminal hydrolase 11" "eye lymphoma" - "triacylglycerol 56:6 measurement"@en "level of Phosphatidylinositol (16:0_18:1) in blood serum" "guanine nucleotide-binding protein G(i) subunit alpha-3" "obsolete_2q31.1 microdeletion syndrome" @@ -25153,14 +25153,14 @@ "BHP5-16" "benign colon neoplasm" "pneumonic plague" - "lumbar disc degeneration" "level of kallikrein-15 in blood serum" + "lumbar disc degeneration" "Intellectual disability-developmental delay-contractures syndrome" "isobutyryl-CoA dehydrogenase, mitochondrial" "otic placode" "familial mesial temporal lobe epilepsy with febrile seizures" - "tumor necrosis factor receptor superfamily member 1A measurement" "level of chromodomain Y-like protein 2 in blood serum" + "tumor necrosis factor receptor superfamily member 1A measurement" "duplication of the pituitary gland" "response to tafenoquine"@en "hyperphenylalaninemia due to DNAJC12 deficiency" @@ -25295,11 +25295,11 @@ "spondyloepimetaphyseal dysplasia-hypotrichosis syndrome" "cell" "Subcutaneous hemorrhage" + "obsolete_Marshall-Smith syndrome" + "hidradenitis suppurativa" "CHO-IR" "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" "squamous cell carcinoma of liver and intrahepatic biliary tract" - "obsolete_Marshall-Smith syndrome" - "hidradenitis suppurativa" "B6.Cg-Tg(SOD1-G93A)1Gur/J" "congenital thrombotic thrombocytopenic purpura" "linolenoylcarnitine (C18:3) measurement" @@ -25309,8 +25309,8 @@ "desmin measurement" "level of retinoic acid receptor RXR-alpha in blood serum" "obsolete_6p22 microdeletion syndrome" - "obsolete_distal trisomy 7p" "purine nucleobase metabolic process" + "obsolete_distal trisomy 7p" "Iranian"@en "Pfeiffer syndrome type 2" "level of platelet-activating factor acetylhydrolase IB subunit alpha1 in blood serum" @@ -25322,9 +25322,9 @@ "obsolete_atrial septal defect, ostium secundum type" "Cucurbita maxima" "formylglycine-generating enzyme" + "obsolete_mosaic trisomy 20" "level of alpha-N-acetylglucosaminidase in blood serum" "sign or symptom concerning food and fluid intake" - "obsolete_mosaic trisomy 20" "spontaneous mutation" "calcium uptake protein 2, mitochondrial" "Ritscher-Schinzel syndrome 1" @@ -25343,18 +25343,18 @@ "GLP-1-stimulated insulin response" "level of leucine-rich repeat and transmembrane domain-containing protein 2 in blood serum" "sulfhydryl oxidase 1 measurement" - "secretagogin measurement" "tumor necrosis factor ligand superfamily member 9 measurement" + "secretagogin measurement" "damage intensity" "obsolete_Han Chinese" - "non-syndromic brachydactyly of fingers" "mPAC L20" + "non-syndromic brachydactyly of fingers" "plasma plasminogen measurement" "obsolete_response to gefitinib" "fruit" "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures" - "N-acetylglucosamine-1-phosphotransferase subunit gamma" "distal trisomy 6q" + "N-acetylglucosamine-1-phosphotransferase subunit gamma" "alanine" "obsolete_Pfeiffer syndrome type 2" "GM1 gangliosidosis type 1" @@ -25378,11 +25378,11 @@ "Wyburn-Mason syndrome" "Human T-lymphotropic virus 2 infectious disease" "elicited macrophage" + "cartilage intermediate layer protein 1 measurement" "level of 26,26,26,27,27,27-hexafluoro-25-hydroxy-16,17,23,23,24,24-hexadehydrovitamin D3 in blood serum" "response to voriconazole"@en "White-Kernohan syndrome" "NC37" - "cartilage intermediate layer protein 1 measurement" "C36:4 phosphatidylethanolamine measurement" "Clostridium difficile 630" "Palmitic acid measurement" @@ -25454,8 +25454,8 @@ "C9orf72 mutation status" "temperature-sensitive oculocutaneous albinism type 1" "pigmented purpuric eruption" - "amyloid plaque accumulation rate" "level of Toll/interleukin-1 receptor domain-containing adapter protein in blood serum" + "amyloid plaque accumulation rate" "motor nerve neuritis" "DroNc-seq" "quinidine" @@ -25546,13 +25546,13 @@ "protein-glutamine gamma-glutamyltransferase activity" "integumentary system cancer" "gastroesophageal reflux disease" - "Hirschsprung disease - ganglioneuroblastoma" "choroideremia-deafness-obesity syndrome" "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5" "placebo" - "sessile serrated polyp" + "Hirschsprung disease - ganglioneuroblastoma" "blood cobalt measurement" "Decreased circulating aldosterone level" + "sessile serrated polyp" "inherited renal tubular disease" "level of disks large homolog 4 in blood serum" "hereditary folate malabsorption" @@ -25582,15 +25582,15 @@ "trem-like transcript 4 protein measurement" "developmental and epileptic encephalopathy, 59" "regulator of G-protein signaling 19" - "phenytoin" "obsolete rare hereditary systemic disease with peripheral neuropathy" + "phenytoin" "LysoPC 14:0 measurement" "LN-428" "obsolete_brachydactyly" "ulcerative proctosigmoiditis" - "angiomyoma" "pseudouridylate synthase TRUB1" "autosomal dominant limb-girdle muscular dystrophy type 1G" + "angiomyoma" "sortilin measurement" "acute maxillary sinusitis" "CINCA syndrome" @@ -25630,8 +25630,8 @@ "response to antibiotic" "obsolete_Bloch-Sulzberger syndrome" "level of FRAS1-related extracellular matrix protein 1 in blood serum" - "exposure" "cerebral meningioma" + "exposure" "ophthalmoplegia" "BICR 22" "mitral valve annular diameter"@en @@ -25717,8 +25717,8 @@ "adenohypophyseal placode" "recurrent Neisseria infections due to factor D deficiency" "obsolete autosomal recessive limb-girdle muscular dystrophy type 2R" - "non-small cell squamous lung carcinoma" "hypertelorism and tetralogy of fallot" + "non-small cell squamous lung carcinoma" "glycolipid transfer protein domain-containing protein 2 measurement" "46,XY sex reversal 3" "Charcot-Marie-Tooth disease axonal type 2Q" @@ -25770,9 +25770,9 @@ "ubiquitin-conjugating enzyme E2 D1" "S2R+" "peroxisomal disease" - "X-12329 measurement" "arsenic trichloride" "lung germ cell tumor" + "X-12329 measurement" "obsolete cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" "neonatal severe primary hyperparathyroidism" "neuronopathy, distal hereditary motor, autosomal recessive 8" @@ -25782,12 +25782,12 @@ "myoclonic epilepsy" "non polyA RNA" "level of heat shock protein beta-6 in blood serum" - "coralliform cataract" "cystic renal cell carcinoma" + "coralliform cataract" "carbonic anhydrase 2" - "peritonitis" "islet cell adenomatosis" "rhabdomyosarcoma with mixed embryonal and alveolar features" + "peritonitis" "syntaxin-17" "putative protein N-methyltransferase FAM86B1" "level of coiled-coil domain-containing protein 149 in blood serum" @@ -25807,22 +25807,22 @@ "noise-induced hearing loss" "cortisol secretion" "behavioral response to water deprivation" - "insect embryonic optic lobe primordium" "level of ectonucleotide pyrophosphatase/phosphodiesterase family member 5 in blood serum" + "insect embryonic optic lobe primordium" "GM17170" "leiomyoma cutis" "chronic intestinal vascular insufficiency" "U11/U12 small nuclear ribonucleoprotein 25 kDa protein" "level of Phosphatidylinositol (16:0_18:2) in blood serum" "Neurologic Waardenburg-Shah syndrome" - "obsolete_Wagner disease" "anterior uvea" "lethal hemolytic anemia-genital anomalies syndrome" + "obsolete_Wagner disease" "gamma-Glu-Glu" "obsolete_isolated thyrotropin-releasing hormone deficiency" "vulva cancer" - "Autosomal ichthyosis syndrome with prominent hair abnormalities" "triacylglycerol 46:2" + "Autosomal ichthyosis syndrome with prominent hair abnormalities" "sulfotransferase 1A3" "obsolete genetic cardiac rhythm disease" "X-linked intellectual disability, Wilson type" @@ -25842,8 +25842,8 @@ "cavernous sinus" "Inability to walk by childhood/adolescence" "X-23593 measurement" - "arrhinia-choanal atresia-microphthalmia syndrome" "GM17199" + "arrhinia-choanal atresia-microphthalmia syndrome" "obsolete_Pelizaeus-Merzbacher disease, connatal form" "obsolete_congenital muscular dystrophy due to LMNA mutation" "GM17294" @@ -25890,9 +25890,9 @@ "Broad foot" "obsolete_X-linked recessive ocular albinism" "carbuncle" - "obsolete_Simpson-Golabi-Behmel syndrome" "level of MARCKS-related protein in blood serum" "nephrolithiasis/osteoporosis, hypophosphatemic" + "obsolete_Simpson-Golabi-Behmel syndrome" "peroxisome biogenesis disorder 3A (Zellweger)" "infant botulism" "DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion" @@ -26092,9 +26092,9 @@ "level of complement C1q-like protein 3 in blood serum" "N-(2-furoyl)glycine measurement" "MCF-7/MN1"@en - "complement C2 measurement" "obsolete_porphyria" "dietary potassium intake measurement" + "complement C2 measurement" "Postaxial foot polydactyly" "suppressor macrophage" "density gradient centrifugation" @@ -26227,8 +26227,8 @@ "CNS demyelinating autoimmune disease" "isolated amyelia" "level of N-acetylated-alpha-linked acidic dipeptidase 2 in blood serum" - "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" "Cryptorchidism - arachnodactyly - intellectual disability" + "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" "plant callus" "diabetic encephalopathy" "dihydropyrimidinase-related protein 5 measurement" @@ -26240,8 +26240,8 @@ "Nthy-ori 3-1" "Missing ribs" "obsolete_IVIC syndrome" - "surfactant" "Epidermolysis bullosa simplex, Dowling-Meara type" + "surfactant" "obsolete_spastic ataxia" "MEL cell line" "obsolete_triglyceride measurement" @@ -26259,8 +26259,8 @@ "spastic paraplegia-facial-cutaneous lesions syndrome" "alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6" "disintegrin and metalloproteinase domain-containing protein 11 measurement" - "obsolete_Mowat-Wilson syndrome" "galactosylceramide sulfotransferase" + "obsolete_Mowat-Wilson syndrome" "lactase/phlorizin hydrolase" "level of disks large-associated protein 4 in blood serum" "photoallergic dermatitis" @@ -26357,12 +26357,12 @@ "obsolete_growth delay due to insulin-like growth factor type 1 deficiency" "Disorder of gamma-aminobutyric acid metabolism" "glycolithocholate measurement" - "congenital diarrhea 5 with tufting enteropathy" "HG03064" + "congenital diarrhea 5 with tufting enteropathy" "N-nitrosodiethylamine" + "U6 snRNA phosphodiesterase measurement" "age at breast cancer diagnosis" "succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial" - "U6 snRNA phosphodiesterase measurement" "picolinoylglycine measurement" "level of multimerin-2 in blood serum" "level of vacuolar protein-sorting-associated protein 25 in blood serum" @@ -26405,11 +26405,11 @@ "benign connective and soft tissue neoplasm" "eye color" "level of transmembrane emp24 domain-containing protein 9 in blood serum" + "obsolete_Charcot-Marie-Tooth disease" + "Lymphangiosarcoma" "simian immunodeficiency virus infection" "blood copper measurement" "Brainstem dysplasia" - "Lymphangiosarcoma" - "obsolete_Charcot-Marie-Tooth disease" "E3 ubiquitin-protein ligase HECW1 measurement" "level of target of Myb1 membrane trafficking protein in blood serum" "glucose-6-phosphatase activity" @@ -26476,8 +26476,8 @@ "acetyllysine measurement" "disorder of plasmalogens biosynthesis" "level of receptor-type tyrosine-protein phosphatase S in blood serum" - "level of beta-1-syntrophin in blood serum" "obsolete_isolated congenital hypoglossia/aglossia" + "level of beta-1-syntrophin in blood serum" "combined immunodeficiency due to partial RAG1 deficiency" "obsolete_bullous skin disease" "S3" @@ -26506,9 +26506,9 @@ "Brachypodium distachyon" "CS57842" "intellectual disability, short stature, facial anomalies, and joint dislocations" - "Short stature - wormian bones - dextrocardia" "anti-neutrophil antibody associated vasculitis" "acute proliferative glomerulonephritis" + "Short stature - wormian bones - dextrocardia" "central nervous system lipoma" "X-23636 measurement" "aseptic loosening" @@ -26663,8 +26663,8 @@ "CD14-low, CD16-positive monocyte" "very-long-chain fatty acyl-CoA dehydrogenase activity" "obsolete_glycogen storage disease due to aldolase A deficiency" - "15-methylpalmitate isobar with 2-methylpalmitate measurement" "chromosome 12p deletion" + "15-methylpalmitate isobar with 2-methylpalmitate measurement" "uveal melanoma disease severity"@en "Nephropathy-deafness-hyperparathyroidism syndrome" "Autosomal dominant focal dystonia, DYT25" @@ -26673,9 +26673,9 @@ "obsolete_Gordon syndrome" "uncharacterized protein C2orf66 measurement" "congenital stationary night blindness 2A" + "Spinocerebellar ataxia type 1 with axonal neuropathy" "mutagen" "angiogenic factor with G patch and FHA domains 1 measurement" - "Spinocerebellar ataxia type 1 with axonal neuropathy" "breast milk collection" "G130" "disorder of galactose and fructose metabolism" @@ -26761,13 +26761,13 @@ "GM17844" "obsolete_isolated focal cortical dysplasia type Ib" "1,3-dimethylurate measurement" - "p phenotype"@en "Staphylococcus aureus subsp. aureus USA300" "distal hereditary motor neuropathy" "high-grade astrocytoma with piloid features" "cataract - microcornea syndrome" "presumptive rhombomere 3" "inflammatory macrophage" + "p phenotype"@en "level of interferon regulatory factor 8 in blood serum" "microfibrillar-associated protein 5" "congenital absence of both lower leg and foot, unilateral" @@ -26803,8 +26803,8 @@ "portal hypertension" "cardiac stress biomarker measurement" "alcohol exposure measurement" - "Short toe" "granular eminence" + "Short toe" "microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome" "detergent" "level of glutathione-specific gamma-glutamylcyclotransferase 1 in blood serum" @@ -26838,9 +26838,9 @@ "obsolete_transient neonatal diabetes mellitus" "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency" "diabetes mellitus, permanent neonatal 2" - "obsolete_Netherton syndrome" "obsolete_congenital vascular bone syndrome" "legionellosis" + "obsolete_Netherton syndrome" "dysplastic cortical hyperostosis" "Xanthomonas oryzae pv. oryzae PXO99A" "obsolete_adult polyglucosan body disease" @@ -26874,8 +26874,8 @@ "Wyeomyia smithii" "level of N-acetylglutamate synthase, mitochondrial in blood serum" "eye measurement" - "obsolete_zygodactyly type 3" "level of double-stranded RNA-binding protein Staufen homolog 2 in blood serum" + "obsolete_zygodactyly type 3" "Dandy-Walker malformation-postaxial polydactyly syndrome" "level of trimeric intracellular cation channel type B in blood serum" "right ventricular stroke volume measurement"@en @@ -26950,18 +26950,18 @@ "synaptogyrin-3" "intellectual disability-epilepsy-extrapyramidal syndrome" "obsolete_preaxial polydactyly of fingers" - "LN-308" "obsolete_scalp-ear-nipple syndrome" - "level of defensin beta 118 in blood serum" + "LN-308" "Ureaplasma urealyticum urethritis" + "level of defensin beta 118 in blood serum" "inborn disorder of biogenic amine metabolism and transport" "microeinstein per square meter per second" "arthrogryposis-severe scoliosis syndrome" "level of phosphatidate phosphatase LPIN1 in blood serum" "level of eukaryotic translation initiation factor 4E in blood serum" "orofacial cleft 1" - "dihomo-gamma-linoleic acid measurement" "malonyl-CoA decarboxylase, mitochondrial measurement" + "dihomo-gamma-linoleic acid measurement" "hypolipoproteinemia" "Aggregatibacter actinomycetemcomitans" "sulfite oxidase activity" @@ -26993,8 +26993,8 @@ "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" "extra-adrenal sympathetic paraganglioma" "BICR 78" - "Saccharomyces mikatae" "phospholipids in very large HDL measurement " + "Saccharomyces mikatae" "obsolete_Autosomal recessive axonal Charcot-Marie-Tooth disease type 2" "Gardner syndrome" "GM13977" @@ -27060,8 +27060,8 @@ "alpha-N-acetylneuraminide alpha-2,8-sialyltransferase" "ototoxicity" "e3 ubiquitin-protein ligase parkin measurement" - "pleckstrin homology domain-containing family O member 2" "level of vacuolar protein sorting-associated protein 26A in blood serum" + "pleckstrin homology domain-containing family O member 2" "Hyperplasia of the endometrium" "Gabriele de Vries syndrome" "epidermal growth factor measurement"@en @@ -27089,11 +27089,11 @@ "GM08388" "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive" "intellectual disability, X-linked 99, syndromic, female-restricted" - "myelodysplastic syndrome" "So-Eum" + "myelodysplastic syndrome" "autoimmune retinopathy" - "Thickened helices" "level of draxin in blood serum" + "Thickened helices" "nuclear pore membrane glycoprotein 210-like measurement" "Leishmania mexicana" "obsolete_pancreas" @@ -27122,8 +27122,8 @@ "level of beta-adducin in blood serum" "obsolete_familial primary localized cutaneous amyloidosis" "interleukin-20 receptor subunit beta" - "level of 5-hydroperoxy-7-[3,5-epidioxy-2-(2-octenyl)-cyclopentyl]-6-heptenoic acid in blood serum" "Binder syndrome" + "level of 5-hydroperoxy-7-[3,5-epidioxy-2-(2-octenyl)-cyclopentyl]-6-heptenoic acid in blood serum" "Tomo-Seq" "obsolete_Pima Indian" "cardiac sarcoidosis" @@ -27225,8 +27225,8 @@ "X-17371 measurement" "obsolete_Tel Hashomer camptodactyly syndrome" "vesicular integral-membrane protein VIP36 measurement" - "obsolete_combined immunodeficiency due to MALT1 deficiency" "intestine" + "obsolete_combined immunodeficiency due to MALT1 deficiency" "Tomato spotted wilt virus" "Alnus glutinosa" "phosphatidylcholine 38:2 measurement"@en @@ -27237,9 +27237,9 @@ "level of phospholipase B-like 1 in blood serum" "Limb hypertonia" "pineal region germinoma" - "obsolete_larynx atresia" "brachyolmia" "level of phosphomannomutase 2 in blood serum" + "obsolete_larynx atresia" "serum VEGFR2 concentration measurement" "L-Proline to 3-Indolepropionic acid ratio" "congenital pseudoarthrosis of the tibia" @@ -27296,9 +27296,9 @@ "NTF2-related export protein 1 measurement" "pediatric fibrosarcoma" "SUM52PE" + "arachidic acid measurement" "appendicitis" "1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n6) measurement" - "arachidic acid measurement" "obsolete cataract - glaucoma" "3-(3-amino-3-carboxypropyl)uridine measurement" "right cardiac atrium" @@ -27349,9 +27349,9 @@ "obsolete deficiency of the interleukin-36 receptor antagonist" "CD4-positive, CD25-positive, alpha-beta regulatory T cell" "Xanthomonas axonopodis pv. citri str. 306" + "X-linked intellectual disability, Shrimpton type" "urea cycle disorder or inherited hyperammonemia" "GM17171" - "X-linked intellectual disability, Shrimpton type" "lung leiomyoma" "phosphatidylcholine O-38:6" "recombinant congenic strain" @@ -27409,9 +27409,9 @@ "level of transcription regulator protein BACH2 in blood serum" "hypopigmentation of eyelid" "sleep depth" + "obsolete_split foot" "obsolete_focal, segmental or multifocal dystonia" "Hypertelorism, Teebi type" - "obsolete_split foot" "idiopathic hypersomnia" "X-11876 measurement" "level of transcription factor CP2-like protein 1 in blood serum" @@ -27514,10 +27514,10 @@ "level of zinc finger protein 774 in blood serum" "uterine ligament cancer" "serine-type endopeptidase activity" + "obsolete_autosomal recessive cutis laxa type 1" "Nephrosis - deafness - urinary tract - digital malformations" "Elevated urinary delta-aminolevulinic acid" "HEK293" - "obsolete_autosomal recessive cutis laxa type 1" "HUES53" "obsolete_Gorlin syndrome" "Bloody diarrhea" @@ -27596,9 +27596,9 @@ "3-methyl-2-oxovalerate" "Solanum lycopersicum" "polymorphic light eruption" - "obsolete_Oculopharyngodistal myopathy" "hereditary pulmonary alveolar proteinosis" "cytokine" + "obsolete_Oculopharyngodistal myopathy" "protein FAM221A" "rheumatic disease" "macroglossia" @@ -27734,8 +27734,8 @@ "obsolete_intellectual disability-obesity-prognathism-eye and skin anomalies syndrome" "T-cell differentiation antigen CD6 (human)" "obsolete_humeral agenesis/hypoplasia, unilateral" - "parietal cell" "hilar cholangiocarcinoma" + "parietal cell" "obsolete_Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion" "partial deletion of chromosome 19" "EB3" @@ -27929,11 +27929,11 @@ "obsolete_loose anagen syndrome" "Elevated circulating 7-dehydrocholesterol concentration" "Bombyx mori" + "obsolete_duodenal atresia" "protein 4.1" "level of mitochondrial-processing peptidase subunit alpha in blood serum" - "obsolete_duodenal atresia" - "very long-chain saturated fatty acid measurement" "cortisone measurement" + "very long-chain saturated fatty acid measurement" "posterior lateral line nerve" "Macrotia" "GRACILE syndrome" @@ -27954,10 +27954,10 @@ "level of Sphingofungin B in blood serum" "bakers yeast extract measurement" "TRAP-Seq" - "Rare hereditary metabolic disease with peripheral neuropathy" "schwannomatosis" "level of surfeit locus protein 1 in blood serum" "MAGUK p55 subfamily member 2" + "Rare hereditary metabolic disease with peripheral neuropathy" "EP300-interacting inhibitor of differentiation 3" "protein S100-P" "level of protein YIPF6 in blood serum" @@ -27980,8 +27980,8 @@ "Tauroursodeoxycholic acid measurement" "infantile liver failure" "obsolete_GMS syndrome" - "Propionibacterium acnes" "cas scaffolding protein family member 4 measurement" + "Propionibacterium acnes" "ribosomal protein S6 kinase alpha-6 measurement" "hereditary angioedema type 3" "obsolete_Generalized pustular psoriasis" @@ -28111,8 +28111,8 @@ "obsolete_atypical Norrie disease due to monosomy Xp11.3" "sleep time" "obsolete_hereditary spastic paraplegia" - "obsolete_bullous dystrophy, macular type" "melanoma-associated antigen 6" + "obsolete_bullous dystrophy, macular type" "Developmental regression" "obsolete_focal dermal hypoplasia" "Cerebellar-facial-dental syndrome" @@ -28138,10 +28138,10 @@ "nuclear factor erythroid 2-related factor 1 measurement" "protein jagged-1 measurement" "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8" - "Holoprosencephaly - craniosynostosis" "low affinity immunoglobulin gamma Fc region receptor II-a measurement" "skin barrier function measurement" "obsolete marginal papular palmoplantar keratoderma" + "Holoprosencephaly - craniosynostosis" "Melon necrotic spot virus" "low density lipoprotein receptor adapter protein 1" "Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy" @@ -28181,22 +28181,22 @@ "bacterial esophagitis" "obsolete_Emery-Dreifuss muscular dystrophy" "splenic hemangioma" - "level of integrin beta-8 in blood serum" "obsolete_visceral branch primordium" + "level of integrin beta-8 in blood serum" "CS57515" "uncharacterized protein KIAA0040 (human)" "erythritol measurement" "familial abdominal aortic aneurysm" - "scalp" "obsolete_reticulate acropigmentation of Kitamura" - "level of E3 ubiquitin ligase TRIM40 in blood serum" + "scalp" "pulmonary mucoepidermoid carcinoma" + "level of E3 ubiquitin ligase TRIM40 in blood serum" "Furuncle" "chromodomain-helicase-DNA-binding protein 7 measurement" - "Renal pseudohypoaldosteronism type 1" "GM17779" "t-SNARE domain-containing protein 1" "CORL88" + "Renal pseudohypoaldosteronism type 1" "Sertoli Cell-Only Syndrome" "respiratory infections, recurrent, and failure to thrive with or without diarrhea" "RL952" @@ -28212,8 +28212,8 @@ "level of endosialin in blood serum" "Gr1-positive, CD43-positive monocyte" "obsolete_Allan-Herndon-Dudley syndrome" - "Cryptococcus" "level of cerebral cavernous malformations 2 protein in blood serum" + "Cryptococcus" "Sinonasal Undifferentiated Carcinoma" "obsolete cranial nerve and nuclear aplasia" "parietal lobe" @@ -28231,8 +28231,8 @@ "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14" "obsolete_neurofibromatosis type 1" "Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia" - "Piriformospora indica" "nausea and vomiting of pregnancy severity measurement" + "Piriformospora indica" "obsolete_isolated focal cortical dysplasia type IIb" "embryonic antennal sense organ" "recombinase activating gene 1 deficiency" @@ -28312,8 +28312,8 @@ "progeroid and marfanoid aspect-lipodystrophy syndrome" "HeLa" "obsolete hypoglossia/aglossia" - "ureter adenocarcinoma" "butyrophilin-like protein 9 measurement" + "ureter adenocarcinoma" "3 inflorescence detectable stage" "obsolete_root cap" "Lagopus lagopus scotica" @@ -28397,8 +28397,8 @@ "level of shadow of prion protein in blood serum" "GM18526" "obsolete_metabolic myopathy" - "DSB-seq" "epilepsy, idiopathic generalized, susceptibility to, 17" + "DSB-seq" "level of hepatic leukemia factor in blood serum" "floral organ differentiation stage" "natural killer cell receptor 2B4 measurement" @@ -28459,8 +28459,8 @@ "hyper-IgE syndrome" "level of death domain-containing protein CRADD in blood serum" "qualitative or quantitative defects of calpain" - "Malformation of the neurenteric canal, spinal cord and column" "early-onset generalized dystonia" + "Malformation of the neurenteric canal, spinal cord and column" "level of discoidin, CUB and LCCL domain-containing protein 1 in blood serum" "Beck-Fahrner syndrome" "clomipramine" @@ -28493,8 +28493,8 @@ "chronic disease" "Spermophilus lateralis" "dual specificity protein phosphatase 21" - "ligament cell" "X-12524 measurement" + "ligament cell" "level of Phosphatidylcholine (16:0_18:3) in blood serum" "soluble triggering receptor expressed on myeloid cells 2 measurement" "congenital disorder of glycosylation, type IIq" @@ -28563,8 +28563,8 @@ "ring chromosome 7" "free cholesterol:total lipids ratio"@en "triacylglycerol 46:0 measurement"@en - "obsolete_dyssegmental dysplasia, Rolland-Desbuquois type" "age of onset of anorexia nervosa" + "obsolete_dyssegmental dysplasia, Rolland-Desbuquois type" "aspartyl/asparaginyl beta-hydroxylase measurement" "vasculitis" "Thickened earlobes - conductive deafness" @@ -28608,12 +28608,12 @@ "level of chromobox protein homolog 3 in blood serum" "NAD-dependent protein deacetylase sirtuin-3, mitochondrial" "acute myeloid leukemia, t(11;19)(q23;p13)" - "NAD-dependent protein deacetylase sirtuin-2 measurement" "phosphatidylcholine 38:4 measurement"@en + "NAD-dependent protein deacetylase sirtuin-2 measurement" "orofaciodigital syndrome X" "mouth floor" - "obsolete_lateral root" "undefined ancestry population" + "obsolete_lateral root" "gonadal germ cell tumor" "occipital lateral line neuromast" "nucleotide exchange factor SIL1" @@ -28818,8 +28818,8 @@ "IgG4-related disease" "pseudohyperaldosteronism type 2" "coagulation factor IXAB measurement" - "N-methyl-6-pyridone-3-carboxamide" "protein LDOC1" + "N-methyl-6-pyridone-3-carboxamide" "proteasome subunit beta type-4" "partial duplication of chromosome 1" "femoral neuropathy" @@ -28865,9 +28865,9 @@ "1,3,7-trimethylurate measurement" "1-oleoylglycerol" "Gaucher disease type 1" + "GM17776" "Benign essential blepharospasm" "Shaken Baby Syndrome" - "GM17776" "Crohn ileitis" "kuru, susceptibility to" "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency" @@ -28890,9 +28890,9 @@ "obsolete posterior fossa malformation" "Child Behaviour Checklist assessment" "obsolete_Prader-Willi syndrome due to imprinting mutation" - "N-acetylglucosaminylasparagine measurement" - "cholesterol in large HDL measurement " "leukosialin" + "cholesterol in large HDL measurement " + "N-acetylglucosaminylasparagine measurement" "level of YTH domain-containing protein 1 in blood serum" "mediastinitis" "obsolete_Duchenne and Becker muscular dystrophy" @@ -28955,8 +28955,8 @@ "level of signal peptide, CUB and EGF-like domain-containing protein 3 in blood serum" "disturbed flow regions" "ARS-Seq" - "obsolete_acrofacial dysostosis, Weyers type" "horse disease" + "obsolete_acrofacial dysostosis, Weyers type" "15-oxo-ETE" "epilepsy of infancy with migrating focal seizures" "level of negative elongation factor E in blood serum" @@ -29009,8 +29009,8 @@ "enhancer of mRNA-decapping protein 4" "spine bone mineral density change measurement" "thymic macrophage" - "treprostinil dose measurement"@en "acheiria, bilateral" + "treprostinil dose measurement"@en "vascular endothelial growth factor B" "heavy metal poisoning" "obsolete_partial deletion of the short arm of chromosome 3" @@ -29026,8 +29026,8 @@ "Solenopsis invicta" "dorsal ectoderm anlage in statu nascendi" "obsolete_maternal uniparental disomy of chromosome 16" - "level of leucine-rich repeat and fibronectin type III domain-containing protein 1 in blood serum" "rhabdomyolysis, susceptibility to, 1" + "level of leucine-rich repeat and fibronectin type III domain-containing protein 1 in blood serum" "glutathione peroxidase 2" "cone dystrophy 1, X-linked" "macromolecule glycosylation" @@ -29036,8 +29036,8 @@ "39S ribosomal protein L14, mitochondrial measurement" "level of ribosome-recycling factor, mitochondrial in blood serum" "combined small cell lung carcinoma" - "X-linked dominant disease" "sinusitis" + "X-linked dominant disease" "leukocyte immunoglobulin-like receptor subfamily A member 4" "Herpes simplex virus 2 seropositivity" "HG02885" @@ -29095,9 +29095,9 @@ "TYK-nu.CP-r" "Finnish type amyloidosis" "prostate cancer cell line" - "Galloway-Mowat syndrome 10" "Endometrial Hyperplasia without Atypia" "GM17262" + "Galloway-Mowat syndrome 10" "demyelinating polyneuropathy" "dense deposit disease" "Glycine max" @@ -29144,8 +29144,8 @@ "obsolete_lissencephaly with cerebellar hypoplasia type C" "level of carnitine O-acetyltransferase in blood serum" "AIDS-related disease" - "obsolete_autosomal recessive cerebellar ataxia with late-onset spasticity" "Yoon-Bellen neurodevelopmental syndrome" + "obsolete_autosomal recessive cerebellar ataxia with late-onset spasticity" "childhood teratoma of the ovary" "level of mitochondrial glycine transporter in blood serum" "radio-renal syndrome" @@ -29198,8 +29198,8 @@ "fraction D precursor B cell" "RCBTB1-related retinopathy" "ureterolithiasis" - "obsolete_hyperlysinemia" "47,XYY syndrome" + "obsolete_hyperlysinemia" "GM18951" "phospholipids:total lipids ratio"@en "level of Phosphatidylcholine (O-16:1_18:1) in blood serum" @@ -29279,8 +29279,8 @@ "somatic stem cell division" "NADPH--cytochrome P450 reductase measurement" "syndromic orbital border hypoplasia" - "juvenile myoclonic epilepsy" "vesicoureteral reflux" + "juvenile myoclonic epilepsy" "LMNA-related cardiocutaneous progeria syndrome" "Porphyromonas gingivalis ATCC 33277" "fenoldopam" @@ -29391,9 +29391,9 @@ "activated protein C measurement" "level of nuclear receptor 2C2-associated protein in blood serum" "kidney disease" - "obsolete_Muckle-Wells syndrome" "cochlin" "Branchio-otic syndrome" + "obsolete_Muckle-Wells syndrome" "geographic tongue" "BALB/cAnN" "osteosclerotic metaphyseal dysplasia" @@ -29450,8 +29450,8 @@ "10x 3' v1" "chromosome 6q24-q25 deletion syndrome" "cholinergic urticaria" - "gliomedin" "synapse" + "gliomedin" "BT20" "level of poly(A) polymerase gamma in blood serum" "level of erythroid membrane-associated protein in blood serum" @@ -29503,8 +29503,8 @@ "quality"@en "quality" "partial duplication of chromosome 2" - "fetal erythroblastosis" "level of cerberus in blood serum" + "fetal erythroblastosis" "BL-2" "junctophilin-3 measurement" "obsolete_congenital enteropathy due to enteropeptidase deficiency" @@ -29548,8 +29548,8 @@ "chymotrypsin-like elastase family member 2A measurement" "Truncal dystonia" "CROAP5" - "level of alpha-1,4-N-acetylglucosaminyltransferase in blood serum" "obsolete_mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency" + "level of alpha-1,4-N-acetylglucosaminyltransferase in blood serum" "Cataract associated with a metabolic disease" "PAT-Seq" "dynein light chain Tctex-type 1" @@ -29575,6 +29575,7 @@ "level of 14-3-3 protein gamma in blood serum" "obsolete_floor plate rhombomere 6" "obsolete_adductor mandibulae complex" + "Polypoidal choroidal vasculopathy" "level of Phosphatidylcholine (O-16:0_16:1) in blood serum" "Kleefstra syndrome 1" "obsolete_pharyngula stage" @@ -29759,11 +29760,11 @@ "level of electron transfer flavoprotein subunit alpha, mitochondrial in blood serum" "protein SEC13 homolog measurement" "Autosomal dominant Charcot-Marie-Tooth disease type 2C" - "labelling" "spastic paraplegia 80, autosomal dominant" + "labelling" "temtamy syndrome" - "CD103-positive dendritic cell" "fresh specimen" + "CD103-positive dendritic cell" "methyl filtration" "X-18888 measurement" "obsolete_congenital or early infantile CACH syndrome" @@ -29773,8 +29774,8 @@ "rectal carcinoma" "growth protocol" "Pierpont syndrome" - "obsolete_synpolydactyly type 1" "serum alanine aminotransferase measurement" + "obsolete_synpolydactyly type 1" "intracranial meningioma" "DOORS syndrome" "West Nile encephalitis" @@ -29850,8 +29851,8 @@ "NMMA measurement" "heterotaxy, visceral, 12, autosomal" "obsolete_retinal macular dystrophy type 2" - "collagen alpha-2(VI) chain" "palmdelphin" + "collagen alpha-2(VI) chain" "Chitayat syndrome" "Connective tissue disorder due to lysyl hydroxylase-3 deficiency" "maculopapular cutaneous mastocytosis" @@ -29917,8 +29918,8 @@ "HuT78" "level of high mobility group protein 20A in blood serum" "theophylline measurement" - "Senior-Loken syndrome 6" "cortical opacity measurement" + "Senior-Loken syndrome 6" "hyperparathyroidism 2 with jaw tumors" "level of heterogeneous nuclear ribonucleoprotein F in blood serum" "Acropora millepora" @@ -29971,12 +29972,12 @@ "notochordal tumor" "duodenal benign neoplasm" "Swiss2" - "obsolete_Zellweger-like syndrome without peroxisomal anomalies" "autosomal dominant osteopetrosis 1" + "obsolete_Zellweger-like syndrome without peroxisomal anomalies" "level of cAMP-dependent protein kinase type II-beta regulatory subunit in blood serum" "praziquantel" - "squamous cell bile duct carcinoma" "Achondrogenesis type 2" + "squamous cell bile duct carcinoma" "ADAMTS13 activity measurement" "obsolete_sarcoidosis" "DNA sequencer" @@ -30119,8 +30120,8 @@ "reticulum cell sarcoma" "severe combined immunodeficiency due to CARD11 deficiency" "experiment accession" - "trait in response to apixaban" "prostaglandin F2 receptor negative regulator measurement" + "trait in response to apixaban" "X-23657 measurement" "postmenopausal" "Staphylococcus aureus subsp. aureus COL" @@ -30135,8 +30136,8 @@ "level of probable E3 ubiquitin-protein ligase HERC4 in blood serum" "BT474" "level of ermin in blood serum" - "leucine-rich repeat serine/threonine-protein kinase 2 measurement" "myoclonic-astatic epilepsy" + "leucine-rich repeat serine/threonine-protein kinase 2 measurement" "mirror polydactyly-vertebral segmentation-limbs defects syndrome" "stem Cell Growth Factor-beta measurement" "renovascular hypertension" @@ -30150,8 +30151,8 @@ "5-oxo-ETE" "RNA polymerase II subunit A C-terminal domain phosphatase SSU72 measurement" "MAM domain-containing glycosylphosphatidylinositol anchor protein 1" - "obsolete_Marfan syndrome type 1" "obsolete_common variable immunodeficiency" + "obsolete_Marfan syndrome type 1" "level of isochorismatase domain-containing protein 1 in blood serum" "PAS-Seq" "dehydroshikimate measurement" @@ -30160,16 +30161,16 @@ "GM12234" "congenital pseudoarthrosis of the ulna" "eukaryotic translation initiation factor 1A, X-chromosomal measurement" + "concentration of medium LDL particles measurement" "diacylglycerol 34:0 measurement" "Abnormality of mouth shape" - "concentration of medium LDL particles measurement" + "3-methylhistidine measurement" "hip bone mineral density" "obsolete autosomal dominant limb-girdle muscular dystrophy type 1A" "SiHa" - "3-methylhistidine measurement" + "carboxypeptidase e measurement" "level of pregnancy-specific beta-1-glycoprotein 5 in blood serum" "17,20-lyase deficiency, isolated" - "carboxypeptidase e measurement" "handedness" "subepithelial mucinous corneal dystrophy" "Heat Stroke" @@ -30219,8 +30220,8 @@ "combined immunodeficiency due to CRAC channel dysfunction" "peptidyl-prolyl cis-trans isomerase FKBP3" "bacterial hemorrhagic fever" - "cardioacrofacial dysplasia 1" "level of zinc finger protein 410 in blood serum" + "cardioacrofacial dysplasia 1" "thymidine phosphorylase" "spermidine synthase" "obsolete_microlissencephaly" @@ -30260,17 +30261,17 @@ "zinc finger protein 134 measurement" "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome" "level of kidney-associated antigen 1 in blood serum" + "obsolete_ventricular septal defect" "level of 14-3-3 protein eta in blood serum" "intraductal papilloma" - "obsolete_ventricular septal defect" "CD8-alpha-beta-positive, alpha-beta intraepithelial T cell" "petal differentiation and expansion stage" "level of Phosphatidylcholine (O-16:0_18:1) in blood serum" "obsolete mitochondrial complex II deficiency" "level of harmonin in blood serum" "level of transcription elongation factor A protein 1 in blood serum" - "Peyer's patch" "gallbladder leiomyoma" + "Peyer's patch" "X-linked intellectual disability, Turner type" "pregnancy-specific beta-1-glycoprotein 9 measurement" "peroxisome biogenesis disorder 1A (Zellweger)" @@ -30311,8 +30312,8 @@ "Adult-onset dystonia-parkinsonism" "level of Myb/SANT-like DNA-binding domain-containing protein 2 in blood serum" "Hohenlieth ecotype" - "MHC-II-positive classical monocyte" "sclerosteosis 2" + "MHC-II-positive classical monocyte" "obsolete_ejaculatory duct" "acyl-coenzyme A thioesterase THEM4" "obsolete_hand-foot-genital syndrome" @@ -30402,8 +30403,8 @@ "Immunodeficiency syndrome with autoimmunity" "level of cAMP-specific 3',5'-cyclic phosphodiesterase 4C in blood serum" "NCI-H2110" - "Rare genetic parathyroid disease and phosphocalcic metabolism disorder" "1-oleoyl-sn-glycero-3-phosphoethanolamine" + "Rare genetic parathyroid disease and phosphocalcic metabolism disorder" "small ribosomal subunit protein eS25" "metaxin-2" "Rho-related GTP-binding protein RhoD" @@ -30418,8 +30419,8 @@ "obsolete_syndromic anorectal malformation" "Marcus-Gunn syndrome" "obsolete_oculomaxillofacial dysostosis" - "level of lipocalin-like 1 protein in blood serum" "hyperpigmentation of the skin" + "level of lipocalin-like 1 protein in blood serum" "39S ribosomal protein L52, mitochondrial measurement" "Abnormality of the thyroid gland" "beta-1,4-galactosyltransferase 5" @@ -30518,10 +30519,10 @@ "aspartate aminotransferase measurement" "C-type lectin domain family 2 member A measurement" "Usher syndrome type 3A" + "obsolete_Ketoacidosis due to beta-ketothiolase deficiency" "aminoadipic acid measurement"@en "Western equine encephalitis" "esophageal endoderm" - "obsolete_Ketoacidosis due to beta-ketothiolase deficiency" "complement C1q tumor necrosis factor-related protein 1" "Weiss-Kruszka syndrome" "disease prognosis measurement" @@ -30536,8 +30537,8 @@ "congenital disorder of glycosylation, type Iw, autosomal dominant" "cholesteryl ester 15:0 measurement" "facial nerve" - "Susac Syndrome" "AG08904" + "Susac Syndrome" "extracellular sulfatase Sulf-2 measurement" "Transitional Meningioma" "volume percent" @@ -30588,8 +30589,8 @@ "obsolete_spinocerebellar ataxia type 18" "epithelioid type angiomyolipoma" "obsolete_Turner syndrome due to structural X chromosome anomalies" - "obsolete_maternal uniparental disomy of chromosome 21" "CS57677" + "obsolete_maternal uniparental disomy of chromosome 21" "cytokine receptor-like factor 1:cardiotrophin-like cytokine factor 1 complex measurement" "level of inositol 1,4,5-triphosphate receptor associated 2 in blood serum" "thioredoxin domain-containing protein 11 measurement" @@ -30833,9 +30834,9 @@ "obsolete_immunodeficiency due to CD25 deficiency" "obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase" "light regimen" + "Primary basilar impression" "BH4-deficient hyperphenylalaninemia A" "concentration of large VLDL particles measurement" - "Primary basilar impression" "Mitochondrial myopathy" "female infertility due to oocyte meiotic arrest" "myopathy, centronuclear, 5" @@ -30867,8 +30868,8 @@ "phosphatidylcholine acyl-alkyl C34:0 measurement" "angiopoietin-like protein 8" "viral encephalitis" - "level of glycoprotein hormone alpha-2 in blood serum" "obsolete_Blepharophimosis - epicanthus inversus - ptosis" + "level of glycoprotein hormone alpha-2 in blood serum" "level of TERF1-interacting nuclear factor 2 in blood serum" "creatine kinase S-type, mitochondrial" "cholestasis" @@ -30940,9 +30941,9 @@ "glycochenodeoxycholate 3-O-glucuronide measurement"@en "reference sample" "obsolete_classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" - "obsolete_oromandibular dystonia" "aldehyde dehydrogenase family 3 member B1" "malate dehydrogenase, mitochondrial" + "obsolete_oromandibular dystonia" "level of kynurenine/alpha-aminoadipate aminotransferase, mitochondrial in blood serum" "obsolete_tibial muscular dystrophy" "Patch-seq" @@ -30956,11 +30957,11 @@ "CLN6 disease" "level of nuclear receptor subfamily 5 group A member 2 in blood serum" "obsolete_X-linked mandibulofacial dysostosis" - "prostaglandin reductase 1 measurement" "level of anosmin-1 in blood serum" + "prostaglandin reductase 1 measurement" "X-23662 measurement" - "level of transcriptional repressor protein YY1 in blood serum" "isocitrate dehydrogenase [NADP] cytoplasmic" + "level of transcriptional repressor protein YY1 in blood serum" "familial prostate carcinoma" "obsolete_adenohypophyseal placode" "hyperinsulinism-hyperammonemia syndrome" @@ -30979,8 +30980,8 @@ "Progressive hearing impairment" "NCI-H2106" "level of catenin alpha-1 in blood serum" - "alanine aminotransferase 1 measurement" "Golgi phosphoprotein 3" + "alanine aminotransferase 1 measurement" "neurodevelopmental disorder with central and peripheral motor dysfunction" "posthitis" "level of Ras-related protein Rab-38 in blood serum" @@ -31015,12 +31016,12 @@ "obsolete_Patterson-Stevenson-Fontaine syndrome" "personality trait measurement" "ampicillin" - "isolated thyrotropin-releasing hormone deficiency" "TBC1 domain family member 28" + "isolated thyrotropin-releasing hormone deficiency" + "hereditary spastic paraplegia 57" "obsolete Joint laxity" "immunodeficiency-centromeric instability-facial anomalies syndrome" "obsolete_endoderm" - "hereditary spastic paraplegia 57" "response to rate control therapy" "brain stem volume measurement"@en "NT-proBNP measurement" @@ -31071,8 +31072,8 @@ "Spinacia oleracea" "obsolete_Holzgreve-Wagner-Rehder syndrome" "chondromodulin-1" - "financial situation satisfaction measurement" "palatine tonsil" + "financial situation satisfaction measurement" "internal yolk syncytial layer" "freemartinism" "level of Phosphatidylcholine (16:1_20:4) in blood serum" @@ -31097,8 +31098,8 @@ "level of plastin-2 in blood serum" "sweet beverage consumption measurement" "SU-DHL-8" - "synaptotagmin-8 measurement" "level of glutathione S-transferase theta-2 in blood serum" + "synaptotagmin-8 measurement" "stromal membrane-associated protein 1" "Medial Tibial Stress Syndrome" "male breast carcinoma" @@ -31151,8 +31152,8 @@ "trigonelline (N'-methylnicotinate) measurement" "obsolete_floor plate rhombomere 7" "obsolete_ethylmalonic encephalopathy" - "lysosomal acid phosphatase measurement" "pharyngula prim-15" + "lysosomal acid phosphatase measurement" "serum albumin measurement" "2-hydroxybehenate measurement" "caspase recruitment domain-containing protein 9" @@ -31165,9 +31166,9 @@ "obsolete_seminal vesicle" "obsolete_qualitative or quantitative defects of fukutin" "calretinin" - "obsolete_mosaic monosomy X" "level of cytosolic beta-glucosidase in blood serum" "admixed ancestry"@en + "obsolete_mosaic monosomy X" "monoatomic ion" "Ralstonia phage RSL1" "polydactyly, postaxial, type A1" @@ -31250,8 +31251,8 @@ "blood protein measurement" "obsolete congenital absence/hypoplasia of thumb, unilateral" "cutaneous porphyria" - "level of protein-tyrosine phosphatase mitochondrial 1 in blood serum" "Kaler-Garrity-Stern syndrome" + "level of protein-tyrosine phosphatase mitochondrial 1 in blood serum" "dopaminergic antagonist" "adenosquamous prostate carcinoma" "endometriosis of intestine" @@ -31280,8 +31281,8 @@ "Clark level II" "level of DDB1- and CUL4-associated factor 11 in blood serum" "hypoplastic left heart syndrome 2" - "Disorder of bile acid synthesis" "obsolete_ureter" + "Disorder of bile acid synthesis" "novobiocin" "neuropathy, congenital hypomelinating" "tongue neoplasm" @@ -31304,8 +31305,8 @@ "benign prostatic hyperplasia" "azathioprine" "carnitine palmitoyl transferase 1A deficiency" - "X-21815 measurement" "1-(1-enyl-oleoyl)-2-docosahexaenoyl-GPE (P-18:1/22:6) measurement" + "X-21815 measurement" "CD38-negative immature B cell" "Caudal appendage - deafness" "AB2" @@ -31426,8 +31427,8 @@ "taste liking measurement" "Breast mass" "GM09581" - "childhood optic tract astrocytoma" "obsolete_ichthyosis prematurity syndrome" + "childhood optic tract astrocytoma" "level of tachykinin-4 in blood serum" "level of protein SEC13 in blood serum" "Congenital cataract microcornea with corneal opacity" @@ -31441,8 +31442,8 @@ "ABeta amyloidosis, dutch type" "chromosome 9 disorder" "choanal atresia" - "acquired angioedema" "neugrin measurement" + "acquired angioedema" "leucine-rich repeat-containing protein 4" "obsolete_Bothnia retinal dystrophy" "age of onset of Alzheimer disease" @@ -31459,9 +31460,9 @@ "obsolete_adult neuronal ceroid lipofuscinosis" "level of ubiquitin carboxyl-terminal hydrolase 21 in blood serum" "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome" + "obsolete_isolated glycerol kinase deficiency" "Benign familial chorea" "angiokeratoma corporis diffusum with arteriovenous fistulas" - "obsolete_isolated glycerol kinase deficiency" "X-02973 measurement" "loricrin keratoderma" "pestivirus infectious disease, non-human animal" @@ -31469,10 +31470,10 @@ "59M" "pyridoxine-5'-phosphate oxidase" "skeletal system disease" + "L-Glutamic acid to 3-Indolepropionic acid ratio" "stathmin" "interferon-induced GTP-binding protein Mx1" "urinary tract infection" - "L-Glutamic acid to 3-Indolepropionic acid ratio" "hyperandrogenism" "obsolete_response to flurouracil" "phosphocreatine measurement"@en @@ -31536,10 +31537,10 @@ "stomatitis" "ovarian mixed germ cell neoplasm" "1-oleoyl-GPG (18:1) measurement" - "D-Trehalose measurement" "BS-Seq" "eyebrow duplication-syndactyly syndrome" "level of low-density lipoprotein receptor class A domain-containing protein 3 in blood serum" + "D-Trehalose measurement" "N-acetylphenylalanine measurement" "blepharophimosis - intellectual disability syndrome, MKB type" "obsolete_epidermolysis bullosa simplex" @@ -31595,8 +31596,8 @@ "F9 mouse embryonal carcinoma cell line" "phosphatidylcholine acyl-alkyl C34:1 measurement" "viral hemorrhagic septicemia" - "level of gephyrin in blood serum" "obsolete_Borjeson-Forssman-Lehmann syndrome" + "level of gephyrin in blood serum" "level of TIMELESS-interacting protein in blood serum" "megaconial type congenital muscular dystrophy" "large ribosomal subunit protein P2" @@ -31657,9 +31658,9 @@ "hemoglobinopathy Toms River" "obsolete_congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency" "obsolete_partial deletion of the long arm of chromosome 5" + "igLON family member 5 measurement" "braddock-carey syndrome 2" "homovanillic acid" - "igLON family member 5 measurement" "Golgi phosphoprotein 3-like" "citrate(1-)" "N-palmitoyl-heptadecasphingosine (d17:1/16:0) measurement" @@ -31743,8 +31744,8 @@ "L-Threonine measurement" "obsolete_ghosal hematodiaphyseal dysplasia" "PHARC syndrome" - "autoimmune disorder of the nervous system" "Genetic disorder of sex development of gynecological interest" + "autoimmune disorder of the nervous system" "peak-valley respiratory sinus arrhythmia or high frequency power" "Spastic paraplegia - precocious puberty" "obsolete_sciatic nerve" @@ -31842,9 +31843,9 @@ "epidermolysis bullosa, junctional 4, intermediate" "multiple acyl-CoA dehydrogenase deficiency, severe neonatal type" "2-stearoyl-GPI (18:0) measurement" - "3-N-Methyl-L-histidine measurement" "Coats plus syndrome" "beta-crystallin B1" + "3-N-Methyl-L-histidine measurement" "obsolete pure or complex autosomal recessive spastic paraplegia" "alcohol dehydrogenase 4 measurement" "Paget disease" @@ -31875,6 +31876,7 @@ "calcium-regulated heat-stable protein 1" "HUES28" "obsolete_attenuated familial adenomatous polyposis" + "protein NDNF measurement" "Enterovirus infectious disease" "Kindalville ecotype" "ATP6AP2-related disorder" @@ -31882,7 +31884,6 @@ "level of SOSS complex subunit C in blood serum" "Abnormality of head or neck" "level of Leu-Ser in blood" - "protein NDNF measurement" "viral load" "sonicator" "obsolete_penis" @@ -31892,9 +31893,9 @@ "obsolete_LEOPARD syndrome" "zinc finger CCCH domain-containing protein 8" "deoxycholate" + "ear protrusion" "retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome" "AB1" - "ear protrusion" "papillary squamous carcinoma" "developmental pluripotency-associated protein 4" "obsolete_ulnar hemimelia, unilateral" @@ -31917,8 +31918,8 @@ "isolated sedoheptulokinase deficiency" "level of TNFAIP3-interacting protein 1 in blood serum" "CXCL6 measurement" - "spliceosome RNA helicase DDX39B measurement" "lateral orbital frontal cortex volume measurement"@en + "spliceosome RNA helicase DDX39B measurement" "level of ADP-ribosylation factor GTPase-activating protein 1 in blood serum" "CS57716" "X-13844 measurement" @@ -32037,8 +32038,8 @@ "Staphylococcus aureus" "obsolete_Scott syndrome" "NKG2D ligand 1 measurement" - "paratyphoid fever" "sensory ataxia" + "paratyphoid fever" "level of MANSC domain-containing protein 4 in blood serum" "retinal telangiectasia" "level of protein C-ets-2 in blood serum" @@ -32099,9 +32100,9 @@ "5-methylthioribose measurement" "VACTERL with hydrocephalus" "multiple myeloma" + "blood galactosylceramidase activity measurement"@en "hemoglobin subunit zeta" "undecenoylcarnitine (C11:1) measurement" - "blood galactosylceramidase activity measurement"@en "CADASIL" "obsolete_gonad primordium" "X-06350 measurement" @@ -32134,11 +32135,11 @@ "glycogen storage disease due to liver phosphorylase kinase deficiency" "cochlin measurement" "pregnancy-specific beta-1-glycoprotein 4" - "obsolete_hyperkeratosis lenticularis perstans" - "Anonychia - microcephaly" "anti-CTCF" "chromosome 14q11-q22 deletion syndrome" + "Anonychia - microcephaly" "thioredoxin-like protein 4A" + "obsolete_hyperkeratosis lenticularis perstans" "2q37 microdeletion syndrome" "Drechslera sp." "obsolete_kidney (Bos taurus)" @@ -32324,8 +32325,8 @@ "level of bMERB domain-containing protein 1 in blood serum" "breast neuroendocrine neoplasm" "sublingual gland carcinoma" - "obsolete_developmental anomaly of metabolic origin" "uveal disorder" + "obsolete_developmental anomaly of metabolic origin" "embryonic cuprophilic cell" "Autosomal dominant spastic paraplegia type 42" "X-03003 measurement" @@ -32352,11 +32353,11 @@ "myeloid sarcoma" "hippocampal CA4 volume" "level of neuronal acetylcholine receptor subunit beta-3 in blood serum" - "piezo-type mechanosensitive ion channel component 1" "Syndrome with hypoparathyroidism" + "piezo-type mechanosensitive ion channel component 1" "Microcephaly - cleft palate" - "beta wave measurement" "carcinoma of floor of mouth" + "beta wave measurement" "opercle" "obsolete_persistent combined dystonia" "1-docosahexaenoyl-GPE (22:6) measurement" @@ -32482,9 +32483,9 @@ "glyceronephosphate O-acyltransferase deficiency" "level of cyclin-dependent kinase 4 inhibitor B in blood serum" "obsolete_adactyly of hand" - "obsolete_integumental system" "polymerase chain reaction"@en "PCR" + "obsolete_integumental system" "obsolete_biceps femoris" "normocytic anemia" "ILSXISS16/TejJ" @@ -32499,16 +32500,16 @@ "deformed epidermal autoregulatory factor 1 homolog measurement" "obsolete_Treacher-Collins syndrome" "obsolete_diffuse palmoplantar keratoderma with painful fissures" - "Epibulbar lipodermoid - preauricular appendage - polythelia" "chromosome 2 disorder" + "Epibulbar lipodermoid - preauricular appendage - polythelia" "encephalopathy, progressive, with amyotrophy and optic atrophy" "Meningomyelocele" "level of flavin-containing monooxygenase 3 in blood serum" "CS57715" "level of leucine-rich repeat transmembrane neuronal protein 2 in blood serum" "sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" - "obsolete_Roberts syndrome" "Descemet's membrane" + "obsolete_Roberts syndrome" "immature gamma-delta T cell" "obsolete_Goldberg-Shprintzen megacolon syndrome" "obsolete_isolated growth hormone deficiency type IB" @@ -32590,12 +32591,12 @@ "obsolete_isolated focal palmoplantar keratoderma" "obsolete_delayed membranous cranial ossification" "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 measurement" - "time to first cigarette measurement" "enzootic pneumonia of calves" "Kin-0" "level of pleckstrin homology domain-containing family M member 2 in blood serum" "Abnormality of the mouth" "Leber-like hereditary optic neuropathy, autosomal recessive 2" + "time to first cigarette measurement" "autosomal recessive Parkinson disease 14" "spectrophotometer" "collagen alpha-1(VIII) chain measurement" @@ -32610,8 +32611,8 @@ "2-3 toe syndactyly" "hematopoietic cell" "purine nucleotide biosynthetic process" - "x-ray repair cross-complementing protein 6 measurement" "obsolete_craniometadiaphyseal dysplasia, wormian bone type" + "x-ray repair cross-complementing protein 6 measurement" "progressive supranuclear palsy-pure akinesia with gait freezing syndrome" "obsolete_canthal anomaly" "basal cell carcinoma" @@ -32699,9 +32700,9 @@ "hydrocephalus, congenital, 5, susceptibility to" "N-oleoyltaurine measurement" "3,3',5-Triiodo-L-thyronine measurement" + "obsolete_Familial capillary hemangioma" "wood parenchyma" "Staphylococcus carnosus" - "obsolete_Familial capillary hemangioma" "pregnancy-specific beta-1-glycoprotein 3" "ectodermal dysplasia 7, hair/nail type" "obsolete_autosomal dominant spondylocostal dysostosis" @@ -32768,10 +32769,10 @@ "5-oxo-ETE measurement" "desmosterolosis" "cysteine sulfinic acid measurement" - "obsolete_hereditary sclerosing poikiloderma with tendon and pulmonary involvement" "PC(19:3(10Z,13Z,16Z)/0:0)" - "multiple sclerosis symptom measurement"@en + "obsolete_hereditary sclerosing poikiloderma with tendon and pulmonary involvement" "Zollinger-Ellison Syndrome" + "multiple sclerosis symptom measurement"@en "level of GRB2-related adapter protein in blood serum" "obsolete_congenital disorder of glycosylation" "complement C1q tumor necrosis factor-related protein 4" @@ -32837,18 +32838,18 @@ "myeloid leukemia cell line" "level of NEDD8 protein in blood serum" "obsolete_autosomal recessive spastic paraplegia type 67" - "14q24.1q24.3 microdeletion syndrome" "testicular hydrocele" + "14q24.1q24.3 microdeletion syndrome" "Undifferentiated Ovarian Carcinoma" "pharyngeal arch artery 5" "neurogenic bowel" "cytoplasmic tyrosine-protein kinase BMX measurement" - "wet beriberi" "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" + "wet beriberi" "Muscle fiber actin filament accumulation" "obsolete major hypertriglyceridemia" - "chromosome 16p13.3 duplication syndrome" "riddelliine" + "chromosome 16p13.3 duplication syndrome" "isolated anterior cervical hypertrichosis" "hereditary sensory and autonomic neuropathy type 1B" "obsolete_BY4741" @@ -32949,8 +32950,8 @@ "neurexophilin-3 measurement" "obsolete class I glucose-6-phosphate dehydrogenase deficiency" "pantothenate kinase 3" - "X-15666 measurement" "collagen type II trimer" + "X-15666 measurement" "level of N-acetylglucosamine in blood" "insulin growth factor-like family member 3 measurement" "WAP four-disulfide core domain protein 2" @@ -32986,9 +32987,9 @@ "level of vesicle-trafficking protein SEC22a in blood serum" "consortium member" "tartarate measurement" - "level of leukocyte cell-derived chemotaxin-2 in blood serum" "neurodevelopmental disorder with absent speech and movement and behavioral abnormalities" "obsolete_olfactory pit" + "level of leukocyte cell-derived chemotaxin-2 in blood serum" "CS57828" "incomplete abortion" "WAP four-disulfide core domain protein 12 measurement" @@ -33034,8 +33035,8 @@ "interleukin 25 measurement" "pyroglutamylglutamine" "obsolete_distal trisomy 9q" - "acute graft versus host disease" "2-docosahexaenoyl-GPE (22:6) measurement" + "acute graft versus host disease" "obsolete_disorder of asparagine metabolism" "obsolete_partial androgen insensitivity syndrome" "hydroxymethylglutaryl-CoA lyase, mitochondrial" @@ -33064,8 +33065,8 @@ "X-08402 measurement" "Glaucoma - sleep apnea" "Bone Anteversion" - "HCC0630" "xylosyl- and glucuronyltransferase LARGE1" + "HCC0630" "dendritic cell" "paternal 20q13.2q13.3 microdeletion syndrome" "protein dpy-30" @@ -33077,8 +33078,8 @@ "level of signal-transducing adaptor protein 1 in blood serum" "inborn carbohydrate metabolic disorder" "obsolete_maternally-inherited Leigh syndrome" - "hypophosphatemia" "protein C-ets-2 measurement" + "hypophosphatemia" "semaphorin-4F" "larynx verrucous carcinoma" "ankle brachial index" @@ -33305,8 +33306,8 @@ "juvenile nasopharyngeal angiofibroma" "bilateral parasagittal parieto-occipital polymicrogyria" "CD11c-low plasmacytoid dendritic cell" - "Young adult-onset Parkinsonism" "CCD-19Lu" + "Young adult-onset Parkinsonism" "ILSXISS19/TejJ" "serine/arginine-rich splicing factor 7" "Saccharum officinarum" @@ -33377,8 +33378,8 @@ "triglycerides in small LDL measurement " "obsolete_partial trisomy/tetrasomy of the short arm of chromosome 12" "artemin measurement" - "level of 60S acidic ribosomal protein P2 in blood serum" "Corpuscular Hemoglobin Concentration Distribution Width" + "level of 60S acidic ribosomal protein P2 in blood serum" "Rhamphochromis sp. 'chilingali'" "decadienylcarnitine measurement" "high affinity nerve growth factor receptor measurement" @@ -33584,11 +33585,11 @@ "childhood pleomorphic rhabdomyosarcoma" "semen measurement"@en "single cell sequencing" - "acetaminophen glucuronide measurement" "level of Ran-specific GTPase-activating protein in blood serum" "obsolete_basibranchial bone" "ADpSGEGDFXAEGGGVR measurement" "glucose metabolism disease" + "acetaminophen glucuronide measurement" "maternal uniparental disomy of chromosome 22" "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" "malignant non-epithelial tumor of ovary" @@ -33679,14 +33680,14 @@ "Classical homocystinuria" "renal cell adenocarcinoma" "HCC2998" - "vulvar syringoma" "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency" + "vulvar syringoma" "nevus, epidermal" "glycosaminoglycan xylosylkinase" "SU-DHL-2" "level of AN1-type zinc finger protein 5 in blood serum" - "hippocampal tail volume" "topiramate" + "hippocampal tail volume" "level of prolyl 3-hydroxylase 1 in blood serum" "scATAC-seq" "L-homocitrulline" @@ -33720,8 +33721,8 @@ "venom gland" "obsolete_hair follicle" "Xeroderma pigmentosum variant" - "pneumonia" "alpha-S1-casein measurement" + "pneumonia" "Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome" "binding site identification design" "pimelic acid measurement"@en @@ -33823,9 +33824,9 @@ "triacylglycerol 50:0 measurement" "Reduced social responsiveness" "obsolete_neural keel" - "prostate lymphoma" "obsolete_partial duplication of the short arm of chromosome 11" "WAP four-disulfide core domain protein 13 measurement" + "prostate lymphoma" "clathrin heavy chain 1" "Staphylococcus aureus subsp. aureus MRSA252" "guanosine diphosphate measurement"@en @@ -33896,11 +33897,11 @@ "autoimmune disorder of gastrointestinal tract" "data analyst" "Schwartz-Jampel syndrome" - "Arrhinia - choanal atresia - microphthalmia" "ribulose 5-phosphate" - "dicofol measurement"@en + "Arrhinia - choanal atresia - microphthalmia" "Stable-Seq" "ectodermal dysplasia-cutaneous syndactyly syndrome" + "dicofol measurement"@en "lysophosphatidylcholine 16:1" "cantharidin" "response to varenicline" @@ -33934,8 +33935,8 @@ "Tax1-binding protein 3" "level of COMM domain-containing protein 10 in blood serum" "distal trisomy 4q" - "recorded follow-up status" "fenson measurement" + "recorded follow-up status" "heregulin B1" "arthrogryposis, Perthes disease, and upward gaze palsy" "level of vitrin in blood serum" @@ -34034,8 +34035,8 @@ "obsolete_blood" "optic nerve astrocytoma" "2-oxindole-3-acetate measurement" - "level of general transcription factor IIE subunit 1 in blood serum" "transcription profiling" + "level of general transcription factor IIE subunit 1 in blood serum" "mitogen-activated protein kinase kinase kinase 10" "protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2" "obsolete_autosomal recessive spastic paraplegia type 69" @@ -34194,15 +34195,15 @@ "irritability measurement" "allergic conjunctivitis" "intestinal bulb" - "qualitative or quantitative defects of FKRP" "LP1" + "qualitative or quantitative defects of FKRP" "alopecia, androgenetic, 1" "obsolete_essential fructosuria" "obsolete_non-syndromic esophageal malformation" + "RNA-DNA SPRITE" "H/ACA ribonucleoprotein complex subunit 2" "closed colony random bred strain" "obsolete_left ventricle" - "RNA-DNA SPRITE" "level of protein polybromo-1 in blood serum" "B- and T-cell mixed leukemia" "biopsy site" @@ -34241,8 +34242,8 @@ "level of frataxin, mitochondrial in blood serum" "killer cell immunoglobulin-like receptor 2DL5A" "dihydrobiopterin measurement"@en - "obsolete_FRAXF syndrome" "radial nerve" + "obsolete_FRAXF syndrome" "LCAT deficiency" "Mus musculus castaneus" "concentration of small VLDL particles" @@ -34378,22 +34379,22 @@ "Proximal placement of thumb" "obsolete_hereditary sensory and autonomic neuropathy type 1" "pregnenediol sulfate (C21H34O5S) measurement" - "collagen alpha-1(I) chain measurement" "tracheobronchial amyloidosis" + "collagen alpha-1(I) chain measurement" + "ceroid-lipofuscinosis neuronal protein 5 measurement" "hippocampal atrophy" - "obsolete rare eye disease due to a differentiation anomaly" "molar mass unit" "level of caspase recruitment domain-containing protein 9 in blood serum" - "level of immediate early response gene 2 protein in blood serum" "acrylamide" - "ceroid-lipofuscinosis neuronal protein 5 measurement" + "obsolete rare eye disease due to a differentiation anomaly" + "level of immediate early response gene 2 protein in blood serum" "deafness" "(S)-warfarin" "cobalamin trafficking protein CblD" "palmoplantar keratoderma-esophageal carcinoma syndrome" "alphapapillomavirus 9 virus seropositivity" - "cryptococcal meningitis" "Canton-S" + "cryptococcal meningitis" "JHH-2" "level of tRNA 2'-phosphotransferase 1 in blood serum" "spinocerebellar ataxia type 10" @@ -34406,13 +34407,13 @@ "obsolete_ring chromosome 5" "plant developmental tissue" "triggering receptor expressed on myeloid cells 1" + "X-08988 measurement" "qualitative or quantitative defects of desmin" "activator of apoptosis harakiri" - "X-08988 measurement" "adrenogenital syndrome" - "Glomerulonephritis - sparse hair - telangiectasis" "RK-13" "obsolete_forelimb" + "Glomerulonephritis - sparse hair - telangiectasis" "Brain Stem Hemorrhage, Traumatic" "Sarcomatoid Carcinoma" "amphoterin-induced protein 1 measurement" @@ -34525,10 +34526,10 @@ "obsolete_sickle cell anemia" "fatty liver disease" "collagen alpha-1(XV) chain measurement" + "3-Indolepropionic acid to Taurocholic acid sodium salt hydrate ratio" "aneurysm" "caudate nucleus volume" "guanylyl cyclase-activating protein 2" - "3-Indolepropionic acid to Taurocholic acid sodium salt hydrate ratio" "level of retinoblastoma-like protein 1 in blood serum" "juvenile absence epilepsy" "chorionic villus" @@ -34543,8 +34544,8 @@ "astrocyte" "GM17136" "10x Xenium"@en - "benign neoplasm of parathyroid gland" "beriberi" + "benign neoplasm of parathyroid gland" "ectodysplasin-a, secreted form measurement" "Rare odontal or periodontal disorder" "prolactin producing pituitary tumor" @@ -34553,11 +34554,11 @@ "pyruvate carboxylase, mitochondrial" "Cerebro-facio-articular syndrome" "level of bone morphogenetic protein 4 in blood serum" + "myxedema" "glucuronide of C10H18O2 (7) measurement" "salmeterol" "CHRF-288"@en "CS57586" - "myxedema" "proteasome subunit alpha type-3" "aminomethyltransferase, mitochondrial" "combined oxidative phosphorylation defect type 14" @@ -34642,8 +34643,8 @@ "obsolete_axial spondylometaphyseal dysplasia" "Male infertility with spermatogenesis disorder due to single gene mutation" "familial primary hypomagnesemia with normocalciuria and normocalcemia" - "segmental progressive overgrowth syndrome with fibroadipose hyperplasia" "obsolete_non-acquired combined pituitary hormone deficiency" + "segmental progressive overgrowth syndrome with fibroadipose hyperplasia" "San Eleno ecotype" "X-12749 measurement" "Behcet's syndrome" @@ -34657,9 +34658,9 @@ "ribonucleotide biosynthetic process" "obsolete_acheiria, unilateral" "leptomyelolipoma" + "obsolete_xanthinuria type II" "a disintegrin and metalloproteinase with thrombospondin motifs 6 measurement" "craniosynostosis-cataract syndrome" - "obsolete_xanthinuria type II" "beta-1,4-galactosyltransferase 3 measurement" "level of carboxypeptidase N catalytic chain in blood serum" "Staphylococcus aureus subsp. aureus MSSA476" @@ -34685,10 +34686,10 @@ "sensory perception of taste" "CCD-29Lu" "arteriovenous malformations of the brain" + "obsolete_lymphangioleiomyomatosis" "keratoconjunctivitis" "ILSXISS23/TejJ" "microcephalic primordial dwarfism due to ZNF335 deficiency" - "obsolete_lymphangioleiomyomatosis" "regulation of system process" "congenital pseudoarthrosis of clavicle" "albinism-hearing loss syndrome" @@ -34781,10 +34782,10 @@ "Dandy-Walker syndrome" "malignant breast myoepithelioma" "Unsteady gait" - "beta-1,4-galactosyltransferase 7 measurement" "(15Z)-12-oxophyto-10,15-dienoic acid" - "level of Arg-Phe in blood" + "beta-1,4-galactosyltransferase 7 measurement" "6,7-dihydropteridine reductase activity" + "level of Arg-Phe in blood" "breakfast skipping measurement" "vortexer" "obsolete_posterior lateral line primordium" @@ -34838,8 +34839,8 @@ "obsolete_telecanthus" "early pro-B cell" "Systemic lupus erythematosus" - "PIK3CA/PIK3R1 measurement" "obsolete_pleomorphic breast carcinoma" + "PIK3CA/PIK3R1 measurement" "Borderline Ovarian Brenner Tumor" "developmental and epileptic encephalopathy, 66" "tacrine" @@ -34901,13 +34902,13 @@ "Alphavirus infectious disease" "M14" "obsolete qualitative or quantitative defects of fukutin" - "Blepharophimosis - ptosis - esotropia - syndactyly - short stature" "ergothioneine" + "Blepharophimosis - ptosis - esotropia - syndactyly - short stature" "level of pyruvate carboxylase, mitochondrial in blood serum" - "carcinoma, non-human animal" "floral organ formation stage" "NHP2-like protein 1" "coisogenic strain" + "carcinoma, non-human animal" "pituitary homeobox 3" "integumental cell" "Disproportionate short-limb short stature" @@ -34985,8 +34986,8 @@ "basophil measurement" "Amelogenesis imperfecta and gingival hyperplasia syndrome" "heat shock 70 kDa protein 6 measurement" - "NKG2-E type II integral membrane protein measurement" "Trichiasis" + "NKG2-E type II integral membrane protein measurement" "L1 larva" "severe intellectual disability-progressive spastic diplegia syndrome" "amyotrophic lateral sclerosis type 18" @@ -35002,10 +35003,10 @@ "hydroxyzine" "BET1-like protein" "level of neurofilament light polypeptide in blood serum" + "Athabaskan brainstem dysgenesis syndrome" "lactoferrin measurement" "autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome" "gastric inhibitory polypeptide" - "Athabaskan brainstem dysgenesis syndrome" "level of small nuclear ribonucleoprotein G in blood serum" "level of KxDL motif-containing protein 1 in blood serum" "amygdala volume change measurement"@en @@ -35018,8 +35019,8 @@ "cinidon ethyl" "obsolete_kidney (Pongon pygmaeus)" "DPAGT1-congenital disorder of glycosylation" - "cholesteryl icosatetraenoate" "myeloid cell surface antigen CD33 measurement" + "cholesteryl icosatetraenoate" "susceptibility to measles measurement" "level of anthrax toxin receptor 2 in blood serum" "large ribosomal subunit protein uL2m" @@ -35164,19 +35165,19 @@ "level of 1-palmitoyl-2-arachidonoyl-sn-glycerol in blood" "mixed liposarcoma" "immunoglobulin heavy constant gamma 2" + "obsolete_isolated punctate palmoplantar keratoderma" "level of DNA polymerase iota in blood serum" "nucleoside monophosphate biosynthetic process" "precancerous condition" - "obsolete_isolated punctate palmoplantar keratoderma" "Jaundice" "Agrobacterium tumefaciens" "Abnormal cerebrospinal fluid morphology" "Hyperlipoproteinemia" "obsolete_embryonic esophageal ganglion" "benign neoplasm of cecum" + "macrophage inflammatory protein 1b measurement" "childhood epithelioid sarcoma" "RDES" - "macrophage inflammatory protein 1b measurement" "methylamine metabolic process" "immunodeficiency 45" "familial acne inversa" @@ -35253,8 +35254,8 @@ "lachnospiraceae seropositivity" "benign choroid plexus neoplasm" "brain injury" - "Ophrys fusca" "human oral metagenome" + "Ophrys fusca" "obsolete_hypercalcemia" "neurensin-1" "obsolete_familial episodic pain syndrome" @@ -35271,8 +35272,8 @@ "Myelofibrosis" "arthrogryposis, distal, type 2B3" "obsolete_renal tubular dysgenesis of genetic origin" - "plastin-1 measurement" "alive with disease" + "plastin-1 measurement" "level of myeloid-derived growth factor in blood serum" "size fractionation" "Hsp70-binding protein 1" @@ -35282,14 +35283,14 @@ "HCC1263" "pectoral fin skeleton" "myopathy, epilepsy, and progressive cerebral atrophy" - "vitreous body disease" "carotid artery disease" + "vitreous body disease" "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3" "sulfotransferase 4A1" "2',3'-cyclic-nucleotide 3'-phosphodiesterase" "cyclic AMP-dependent transcription factor ATF-6 beta" - "Renal cortical hyperechogenicity" "remnant cholesterol change measurement" + "Renal cortical hyperechogenicity" "level of StAR-related lipid transfer protein 5 in blood serum" "caudate-putamen" "hereditary renal hypouricemia" @@ -35314,15 +35315,15 @@ "guanylate cyclase activator 2B" "obsolete syndromic keratoconus" "gamma-carboxyglutamate measurement" - "obsolete_distal trisomy 6q" "level of programmed cell death protein 6 in blood serum" "obsolete_neonatal glycine encephalopathy" - "X-12217 measurement" "MDAMB361" "level of Axin interactor, dorsalization-associated protein in blood serum" "level of scavenger receptor cysteine-rich domain-containing group B protein in blood serum" "loneliness measurement" + "X-12217 measurement" "breast adenocarcinoma" + "obsolete_distal trisomy 6q" "peptide chain release factor 1-like, mitochondrial" "obsolete_early-onset Lafora body disease" "cholesterol to total lipids in small LDL percentage " @@ -35356,10 +35357,10 @@ "obsolete_MELAS syndrome" "heparan-sulfate 6-o-sulfotransferase 1 measurement" "level of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A in blood serum" - "Mahlavu" + "obsolete_split hand or/and split foot malformation" "level of retinoblastoma-like protein 2 in blood serum" "Epstein-Barr virus-associated malignant lymphoproliferative disorder" - "obsolete_split hand or/and split foot malformation" + "Mahlavu" "level of beta-defensin 112 in blood serum" "twin-to-twin transfusion syndrome" "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" @@ -35367,9 +35368,9 @@ "trem-like transcript 2 protein" "level of Ras-related and estrogen-regulated growth inhibitor in blood serum" "parental longevity" + "obsolete_syndromic intestinal malformation" "oligodendrocyte" "magnesium transporter NIPA4 measurement" - "obsolete_syndromic intestinal malformation" "BD-215" "ddMDA" "inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 measurement" @@ -35432,8 +35433,8 @@ "obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2P" "Abnormal bleeding" "obsolete_ventral epidermis primordium" - "AT-rich interactive domain-containing protein 3A measurement" "streptococcal pharyngitis" + "AT-rich interactive domain-containing protein 3A measurement" "De Quervain disease" "SNU-719" "beta-defensin 103 measurement" @@ -35506,8 +35507,8 @@ "Eosinophilia-Myalgia Syndrome" "out at first protein homolog measurement" "dysbindin" - "Muscle weakness" "obsolete_Lisch epithelial corneal dystrophy" + "Muscle weakness" "Alpers syndrome" "set1/Ash2 histone methyltransferase complex subunit ASH2 measurement" "pterin-4 alpha-carbinolamine dehydratase 1 deficiency" @@ -35516,13 +35517,13 @@ "childhood brain stem neoplasm" "trachea blood vessel" "obsolete_lateral geniculate nucleus" - "vascular leaf" "type II NK T cell" + "vascular leaf" "obsolete_familial abdominal aortic aneurysm" "histone-lysine N-methyltransferase SETD2" "DEOC-1" - "obsolete_myopathy due to calsequestrin and SERCA1 protein overload" "ELR" + "obsolete_myopathy due to calsequestrin and SERCA1 protein overload" "2-phosphoxylose phosphatase 1 measurement" "level of zinc finger protein 175 in blood serum" "Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis" @@ -35592,9 +35593,9 @@ "genistein" "splenic diffuse red pulp small B-cell lymphoma" "limb-girdle muscular dystrophy" + "obsolete_metaphyseal chondrodysplasia, Jansen type" "Genetic digestive tract tumor" "Leydig cell hypoplasia" - "obsolete_metaphyseal chondrodysplasia, Jansen type" "nanomolar" "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1" "amyotrophic lateral sclerosis type 2, juvenile" @@ -35650,10 +35651,10 @@ "level of synaptotagmin-6 in blood serum" "scopolamine" "Thymic Small Cell Carcinoma" - "X-24972 measurement" "level of coiled-coil domain-containing protein 9 in blood serum" "general vesicular transport factor p115" "Apis mellifera mellifera" + "X-24972 measurement" "Personality disorder" "cytochrome c oxidase subunit 5B, mitochondrial" "level of carcinoembryonic antigen-related cell adhesion molecule 7 in blood serum" @@ -35687,9 +35688,9 @@ "hematopoietic progenitor cell antigen CD34 measurement" "septopreoptic holoprosencephaly" "SUM185PE" - "homogentisate measurement" "ancylostomiasis" "level of protein FAM3A in blood serum" + "homogentisate measurement" "rRNA methyltransferase 2, mitochondrial" "blue cone monochromacy" "diabetes, deafness, developmental delay, and short stature syndrome" @@ -35800,11 +35801,11 @@ "obsolete_congenital absence/hypoplasia of fingers excluding thumb" "titin" "lymphatic malformation 12" + "obsolete_TARP syndrome" "level of ubiquitin domain-containing protein 2 in blood serum" "X-11850 measurement" - "obsolete_TARP syndrome" - "obsolete_Inositol measurement" "obsolete_nonepidermolytic palmoplantar keratoderma" + "obsolete_Inositol measurement" "disorder of folate metabolism and transport" "Nephrogenic rest" "pulmonary fibrosis and/or bone marrow failure, telomere-related" @@ -35814,8 +35815,8 @@ "dual specificity protein phosphatase 6 measurement" "obsolete_null syndrome" "alpha-1-antichymotrypsin complex measurement" - "OCI-AML2" "level of protein kinase C and casein kinase substrate in neurons protein 3 in blood serum" + "OCI-AML2" "obsolete_spondyloepimetaphyseal dysplasia, Irapa type" "treatment" "X-linked thrombocytopenia with normal platelets" @@ -35868,9 +35869,9 @@ "Hypoplastic scapulae" "level of zymogen granule membrane protein 16 in blood serum" "Impaired visuospatial constructive cognition" - "endometrial carcinoma" "Loeys-Dietz syndrome 6" "G4-seq" + "endometrial carcinoma" "Severe combined immunodeficiency" "WW domain binding protein 1-like measurement" "level of glycogenin-2 in blood serum" @@ -35895,9 +35896,9 @@ "level of serine/threonine-protein kinase 4 in blood serum" "obsolete_autosomal recessive ataxia due to ubiquinone deficiency" "beta-1,4 N-acetylgalactosaminyltransferase 1" + "Autosomal dominant optic atrophy and cataract" "EFM-192C" "probable carboxypeptidase X1" - "Autosomal dominant optic atrophy and cataract" "intermediate monocyte" "obsolete_14q11.2 microduplication syndrome" "Autosomal recessive spastic paraplegia type 44" @@ -35941,9 +35942,9 @@ "L-6" "invertebrate limb" "Brown-Pearce carcinoma" + "erosive tooth wear measurement" "oppositional defiant disorder measurement" "HCC1319" - "erosive tooth wear measurement" "vitreous prolapse" "Cerebral arteriovenous malformation" "obsolete_mosaic trisomy 2" @@ -35961,13 +35962,13 @@ "experimental scientist" "level of protein-lysine N-methyltransferase EEF2KMT in blood serum" "obsolete_syndactyly type 1" + "Cataract - intellectual disability - anal atresia - urinary defects" "level of programmed cell death 6-interacting protein in blood serum" "constitutional neutropenia" "upper respiratory tract" "level of fucose in blood" - "Cataract - intellectual disability - anal atresia - urinary defects" - "level of allograft inflammatory factor 1-like in blood serum" "obsolete_response to rifampicin" + "level of allograft inflammatory factor 1-like in blood serum" "obsolete_snRNA-seq" "ataxia-tapetoretinal degeneration syndrome" "death domain-containing protein CRADD" @@ -35996,8 +35997,8 @@ "Vicia narbonensis" "mucosa-associated lymphoid tissue macrophage" "obsolete_acheiria, bilateral" - "obsolete_mitochondrial protein import disorder" "hyperphalangy, unilateral" + "obsolete_mitochondrial protein import disorder" "synaptotagmin-6" "tetrasomy" "catalase measurement" @@ -36018,19 +36019,19 @@ "bordetellosis" "DnaJ homolog subfamily C member 10 measurement" "protein phosphatase 1B" - "X-12230 measurement" "MDAMB415" "autosomal recessive ataxia, Beauce type" + "X-12230 measurement" "transcription profiling by high throughput sequencing" "arthritis, sacroiliac" "breast carcinoma" "brush cell" "cholesterol to total lipids in small VLDL percentage " "obsolete_lattice corneal dystrophy type I" + "obsolete_odontohypophosphatasia" "metenamine measurement" "level of resistin-like beta in blood serum" "dietary niacin intake measurement" - "obsolete_odontohypophosphatasia" "Keratosis follicularis - dwarfism - cerebral atrophy" "neuronopathy, distal hereditary motor, type 5B" "silver-russell syndrome 4" @@ -36046,9 +36047,9 @@ "obsolete_microcytic anemia with liver iron overload" "1-palmitoyl-GPI (16:0) measurement" "triacylglycerol 51:2 measurement" + "Ficoll-Hypaque method" "macrocephaly-autism syndrome" "intellectual disability-facial dysmorphism-hand anomalies syndrome" - "Ficoll-Hypaque method" "Methicillin-Resistant Staphylococcus Aureus Pneumonia" "lipoma of face" "vaginal carcinoma" @@ -36057,9 +36058,9 @@ "Salmonella enterica subsp. indica" "icos ligand measurement" "psoriatic arthritis, susceptibility to" - "level of immunoglobulin superfamily DCC subclass member 4 in blood serum" "Dyggve-Melchior-Clausen disease" "arginyl-tRNA--protein transferase 1" + "level of immunoglobulin superfamily DCC subclass member 4 in blood serum" "leiomodin-1 measurement" "obsolete_obesity due to CEP19 deficiency" "legionella seropositivity" @@ -36085,9 +36086,9 @@ "EpiRADSeq" "level of histone-lysine N-methyltransferase EZH2 in blood serum" "inositol monophosphatase 3 measurement" + "blood tin measurement"@en "ectonucleoside triphosphate diphosphohydrolase 3 measurement" "level of spermatogenesis-associated protein 22 in blood serum" - "blood tin measurement"@en "obsolete hyperlipoproteinemia type IV" "obsolete_bone MMHCC" "forelimb" @@ -36225,8 +36226,8 @@ "distal renal artery" "obsolete_Hypotonia-speech impairment-severe cognitive delay syndrome" "laminin alpha 2-related dystrophy" - "intellectual developmental disorder with speech delay, autism and dysmorphic facies" "ethion measurement"@en + "intellectual developmental disorder with speech delay, autism and dysmorphic facies" "obsolete reproduction" "dual specificity protein phosphatase 15" "nociceptin" @@ -36251,8 +36252,8 @@ "sample barcode offset" "diltiazem" "obsolete_autosomal dominant proximal renal tubular acidosis" - "acesulfame measurement" "Rho-related GTP-binding protein RhoE" + "acesulfame measurement" "CD4-positive type I NK T cell" "level of nuclear factor of activated T-cells, cytoplasmic 1 in blood serum" "protein S measurement" @@ -36286,12 +36287,12 @@ "sampling time" "chromosome Xp21 deletion syndrome" "picomolar" - "mitochondrial substrate carrier disorder" "euryblepharon" + "mitochondrial substrate carrier disorder" "paraneoplastic cutaneous syndrome" "level of ATP synthase-coupling factor 6, mitochondrial in blood serum" - "urethritis" "GM17181" + "urethritis" "extracellular organelle" "benign neoplasm of spinal cord" "fallopian tube endometrioid adenocarcinoma" @@ -36307,10 +36308,10 @@ "obsolete_Fryns syndrome" "heparan sulfate glucosamine 3-O-sulfotransferase 5" "Charcot-Marie-Tooth disease, demyelinating, type 1J" + "Cestode Infections" "S-180" "Bartholin gland adenomyoma" "urinary sodium measurement"@en - "Cestode Infections" "obsolete_hydrolethalus syndrome" "vitamin D metabolic process" "drug-induced autoimmune hemolytic anemia" @@ -36327,8 +36328,8 @@ "chromosome 17p13.3 duplication syndrome" "beta-1,4-glucuronyltransferase 1 measurement" "BMP receptor type-1B" - "ST Elevation Myocardial Infarction" "obsolete_colorectal tumor" + "ST Elevation Myocardial Infarction" "annular epidermolytic ichthyosis" "autosomal dominant nonsyndromic hearing loss 2A" "gingival overgrowth" @@ -36348,8 +36349,8 @@ "level of synaptotagmin-7 in blood serum" "level of Ser-Leu in blood" "ubiquitin carboxyl-terminal hydrolase 1" - "X-24980 measurement" "obsolete_familial infantile gigantism" + "X-24980 measurement" "Borderline personality disorder" "Haemophilus ducreyi 35000HP" "level of leukocyte-associated immunoglobulin-like receptor 2 in blood serum" @@ -36365,17 +36366,17 @@ "obsolete_Primary familial polycythemia" "neuropilin-1 measurement" "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3" - "level of glycine N-acyltransferase-like protein 2 in blood serum" "obsolete_GM1 gangliosidosis type 1" + "level of glycine N-acyltransferase-like protein 2 in blood serum" "hypomagnesemia, seizures, and intellectual disability" "congenital sucrase-isomaltase deficiency with minimal starch tolerance" "HOS" "dyschromatosis universalis hereditaria" "protein JTB" "diacylglycerol 30:1 measurement" - "cholesteryl esters to total lipids in medium HDL percentage " "SW837" "Ralstonia pickettii" + "cholesteryl esters to total lipids in medium HDL percentage " "microphthalmia with limb anomalies" "immunodeficiency-related disorder" "level of glyoxylate reductase/hydroxypyruvate reductase in blood serum" @@ -36383,9 +36384,9 @@ "Orofaciodigital syndrome type 11" "Monosiga brevicollis" "neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies" - "obsolete_Rieger anomaly" "MN1" "atransferrinemia" + "obsolete_Rieger anomaly" "6-hydroxyindole sulfate measurement" "obsolete_apert syndrome" "level of CCAAT/enhancer-binding protein alpha in blood serum" @@ -36435,9 +36436,9 @@ "obsolete_X-linked intellectual disability with isolated growth hormone deficiency" "response to calcineurin inhibitor" "semaphorin-3B" - "obsolete_12q14 microdeletion syndrome" "scyllo-inositol measurement" "Cerebellar vermis atrophy" + "obsolete_12q14 microdeletion syndrome" "syndromic X-linked intellectual disability Shrimpton type" "vasa recta ascending limb" "obsolete_oculotrichoanal syndrome" @@ -36458,8 +36459,8 @@ "disease related to transplantation" "obsolete_oculocutaneous albinism type 3" "Charcot-Marie-Tooth disease type 2A2" - "pneumoviridae seropositivity" "colorectal adenoma" + "pneumoviridae seropositivity" "anal canal" "spondylocarpotarsal synostosis syndrome" "gender identity disorder" @@ -36470,11 +36471,10 @@ "small intestinal sarcoma" "GM14468" "beta globulin measurement"@en - "gamma-glutamyl-2-aminobutyrate measurement" "Cleft palate - large ears - small head" + "gamma-glutamyl-2-aminobutyrate measurement" "idiopathic bronchiectasis" "X-23590 measurement" - "Familial afibrinogenemia" "acute monocytic leukemia" "glucose-galactose malabsorption" "obesity due to prohormone convertase I deficiency" @@ -36482,6 +36482,7 @@ "exanthem" "Recurrent tonsillitis" "G4 ChIP-seq" + "Familial afibrinogenemia" "1-(1-enyl-stearoyl)-2-linoleoyl-GPC (P-18:0/18:2) measurement" "obsolete_NCIH460" "level of pterin-4-alpha-carbinolamine dehydratase in blood serum" @@ -36532,8 +36533,8 @@ "all-trans-retinoic acid" "conidiophore" "atom" - "level of interferon-inducible double-stranded RNA-dependent protein kinase activator A in blood serum" "Pancreatic hypoplasia - diabetes - congenital heart disease" + "level of interferon-inducible double-stranded RNA-dependent protein kinase activator A in blood serum" "C-X-C motif chemokine 13 measurement" "nuclear RNA" "transcription initiation factor IIE subunit beta" @@ -36550,10 +36551,10 @@ "obsolete_Chudley-McCullough syndrome" "cerebrospinal fluid volume measurement" "obsolete_autosomal recessive spastic paraplegia type 59" - "Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus" "uromodulin measurement"@en "obsolete other immunodeficiency syndrome with predominantly antibody defects" "femoral agenesis/hypoplasia, bilateral" + "Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus" "ectoderm" "functional gastric disease" "autosomal recessive limb-girdle muscular dystrophy type 2D" @@ -36631,15 +36632,15 @@ "level of nicotinamide riboside kinase 2 in blood serum" "signet ring cell carcinoma" "obsolete_Familial temporal epilepsy" - "Toe clinodactyly" "programmed cell death protein 1 measurement" + "Toe clinodactyly" "regulation of gonadotropin secretion" "obsolete_CINCA syndrome" "obsolete_8q22.1 microdeletion syndrome" - "chondroadherin measurement" "CD11b-positive, CD27-positive natural killer cell, mouse" "L-Histidine to 3-Indolepropionic acid ratio" "hypothyroidism, congenital, nongoitrous" + "chondroadherin measurement" "level of UDP-glucose 6-dehydrogenase in blood serum" "Mycobacterium leprae" "selenoprotein S measurement" @@ -36688,8 +36689,8 @@ "Syndactyly type 2" "Hypertonia" "obsolete primary immunodeficiency due to a genetic defect in innate immunity" - "obsolete_X-linked severe congenital neutropenia" "oligomycin" + "obsolete_X-linked severe congenital neutropenia" "susceptibility to rubella infection measurement" "Loss of voice" "Partial deletion of the short arm of chromosome 18" @@ -36818,9 +36819,9 @@ "neutrophil count" "scrotum squamous cell carcinoma" "epidermolysis bullosa simplex 1B, generalized intermediate" + "obsolete_maternal uniparental disomy of chromosome 4" "obsolete_polydactyly" "protein GPR107 measurement" - "obsolete_maternal uniparental disomy of chromosome 4" "isolated scaphocephaly" "level of spondin-2 in blood serum" "natural cytotoxicity triggering receptor 2 measurement" @@ -36905,8 +36906,8 @@ "triacylglycerol 56:4" "atrial septal defect, sinus venosus type" "obsolete_Classic Bartter syndrome" - "level of copine-7 in blood serum" "Polydipsia" + "level of copine-7 in blood serum" "obsolete_genetic dementia" "level of neurexophilin-2 in blood serum" "Premature coronary artery atherosclerosis" @@ -36941,9 +36942,9 @@ "oxysterol-binding protein-related protein 11 measurement" "Methicillin-Susceptible Staphylococcus Aureus Infection" "brain astrocytoma" - "Rare genetic parkinsonian disorder" "long COVID-19" "cyclic AMP-dependent transcription factor ATF-3" + "Rare genetic parkinsonian disorder" "type 1 diabetes mellitus 22" "Sulfolobus acidocaldarius" "disease course" @@ -37113,10 +37114,10 @@ "ovarian monodermal and highly specialized teratoma" "ribonucleoside-diphosphate reductase large subunit measurement" "Borderline Ovarian Mucinous Tumor" - "neurotrophin-4 measurement" "obsolete erythrokeratoderma variabilis progressiva" "tubulointerstitial nephritis antigen-like" "Uridine Diphosphate Glucose" + "neurotrophin-4 measurement" "hypomyelinating leukodystrophy 10" "myoepithelial cell" "spinocerebellar ataxia type 30" @@ -37147,9 +37148,9 @@ "1-oleoyl-GPI (18:1) measurement" "triacylglycerol 54:2 measurement"@en "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" - "Autosomal recessive spastic paraplegia type 48" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2Q" "liver fibrosarcoma" + "Autosomal recessive spastic paraplegia type 48" "level of DNA (cytosine-5)-methyltransferase 3-like in blood serum" "level of prostaglandin-H2 D-isomerase in blood serum" "fumarylacetoacetate hydrolase domain-containing protein 2A" @@ -37288,8 +37289,8 @@ "ciliary neurotrophic factor measurement" "mesodermal cell" "hexadecanoate" - "level of CCAAT/enhancer-binding protein epsilon in blood serum" "extracutaneous mastocytoma" + "level of CCAAT/enhancer-binding protein epsilon in blood serum" "interleukin-17C" "protein BEX2" "obsolete_primary short bowel syndrome" @@ -37346,8 +37347,8 @@ "obsolete_deafness-infertility syndrome" "JK1107" "validation by reverse transcription PCR design" - "Lacrimoauriculodentodigital syndrome" "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" + "Lacrimoauriculodentodigital syndrome" "semaphorin-3B measurement" "X-linked dominant intellectual disability - epilepsy syndrome" "level of AP-1 complex subunit gamma-like 2 in blood serum" @@ -37367,10 +37368,10 @@ "level of annexin A13 in blood serum" "GM2 gangliosidosis" "aldehyde dehydrogenase, dimeric NADP-preferring measurement" + "apolipoprotein C measurement"@en "periosteum" "acute synovitis" "Tomato ringspot virus" - "apolipoprotein C measurement"@en "chromosome 18q deletion syndrome" "chloromethiuron measurement" "4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate" @@ -37435,9 +37436,9 @@ "level of probable E3 ubiquitin-protein ligase TRIML1 in blood serum" "obsolete_partial deletion of the long arm of chromosome 7" "Inherited congenital spastic tetraplegia" + "childhood adrenal gland pheochromocytoma" "obsolete_Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" "administrator" - "childhood adrenal gland pheochromocytoma" "fetal and adult testis-expressed transcript protein" "corticotropin" "level of adhesion G-protein coupled receptor D1 in blood serum" @@ -37491,8 +37492,8 @@ "epidermolysis bullosa, junctional 2A, intermediate" "sensory perception of pain" "PARS" - "alive at endpoint" "EVSA-T" + "alive at endpoint" "glycogen storage disease VII" "Autosomal dominant medullary cystic kidney disease with hyperuricemia" "aorta endothelium" @@ -37668,11 +37669,11 @@ "pyloric stenosis, infantile hypertrophic, 1" "autosomal recessive spastic paraplegia type 68" "stomach diverticulum" - "1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPC (P-18:0/22:6) measurement" "MDAMB436" - "congenital myasthenic syndromes with glycosylation defect" + "1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPC (P-18:0/22:6) measurement" "6-pyruvoyl tetrahydrobiopterin synthase" "assay by molecule" + "congenital myasthenic syndromes with glycosylation defect" "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome" "obsolete_helicoid peripapillary chorioretinal degeneration" "Cowden syndrome 5" @@ -37791,8 +37792,8 @@ "neuron-specific protein family member 2 measurement" "benign ovarian sex cord-stromal tumor" "level of macrophage receptor MARCO in blood serum" - "level of coagulation factor VII in blood serum" "obsolete_white blood cell" + "level of coagulation factor VII in blood serum" "obsolete_familial isolated arrhythmogenic ventricular dysplasia, biventricular form" "noise exposure measurement" "neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia" @@ -37864,19 +37865,19 @@ "presumptive neural retina" "obsolete_3-methylglutaconic aciduria type 3" "obsolete_sinoatrial node dysfunction and deafness" - "obsolete_alpha-mannosidosis, adult form" "degree" "heparan-sulfate 6-O-sulfotransferase 3" "activated CD4-positive type I NK T cell" + "obsolete_alpha-mannosidosis, adult form" "ovarian lymphoma" "phospholipid measurement" "cyclin-dependent kinase 20" "obsolete_oculocerebral hypopigmentation syndrome, Cross type" - "synovium cancer" "v-set and immunoglobulin domain-containing protein 2 measurement" + "synovium cancer" + "LCL1" "gamma-soluble NSF attachment protein" "GM06993" - "LCL1" "taurocholate measurement"@en "immunodeficiency 14b, autosomal recessive" "level of biogenesis of lysosome-related organelles complex 1 subunit 1 in blood serum" @@ -37903,9 +37904,9 @@ "benign neoplasm of epicardium" "extragonadal seminoma" "skin cancer" + "Cleft palate - short stature - vertebral anomalies" "milk allergic reaction" "cyclo(leu-pro) measurement" - "Cleft palate - short stature - vertebral anomalies" "Kearns-Sayre syndrome" "obsolete_male infertility with azoospermia or oligozoospermia due to single gene mutation" "sentrin-specific protease 7" @@ -37921,11 +37922,11 @@ "polypeptide N-acetylgalactosaminyltransferase 11 measurement" "17q11 microdeletion syndrome" "Cholecystitis, Acute" - "infectious colitis" "RT4-D6P2T" "non-alcoholic pancreatitis"@en - "HCC4011" + "infectious colitis" "erythropoietic uroporphyria associated with myeloid malignancy" + "HCC4011" "3-(indol-3-yl)lactate" "cysteine protease ATG4B" "Abnormal talus morphology" @@ -37969,9 +37970,9 @@ "cortisone" "retroperitoneal neoplasm" "crown root" - "panniculitis" "phosphatidylcholine diacyl C36:0 measurement" "level of betaine--homocysteine S-methyltransferase 2 in blood serum" + "panniculitis" "obsolete_Y chromosome number anomaly" "level of GDP-mannose 4,6 dehydratase in blood serum" "dyslexia-associated protein KIAA0319-like protein measurement" @@ -38056,11 +38057,11 @@ "chloride intracellular channel protein 3" "chronic rapidly progressive glomerulonephritis" "infectious posterior uveitis" - "Glycogen storage disease due to glucose-6-phosphatase deficiency type b" "NH4_C36:2 DAG_or_TAG_fragment measurement" "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" "level of centrosomal protein of 41 kDa in blood serum" "tropomyosin alpha-1 chain measurement" + "Glycogen storage disease due to glucose-6-phosphatase deficiency type b" "legionnaire disease, susceptibility to" "quinolinate(1-)" "obsolete_oculocutaneous albinism type 4" @@ -38238,9 +38239,8 @@ "level of perilipin-3 in blood serum" "postaxial polydactyly type B" "blood vanadium measurement"@en - "obsolete_9p13 microdeletion syndrome" "pancreatic adenocarcinoma" - "asthma symptoms measurement" + "obsolete_9p13 microdeletion syndrome" "level of 39S ribosomal protein L52, mitochondrial in blood serum" "cerebellar pilocytic astrocytoma" "level of calcium-activated chloride channel regulator 2 in blood serum" @@ -38248,6 +38248,7 @@ "X-linked retinal dysplasia" "DNA shearing" "glutathione-specific gamma-glutamylcyclotransferase 2" + "asthma symptoms measurement" "GM17188" "bilirubin encephalopathy" "benign neoplasm of male breast" @@ -38291,8 +38292,8 @@ "alive with progressive disease" "Manduca sexta" "Lennox-Gastaut syndrome" - "MAD2L1-binding protein" "delta-CEHC measurement" + "MAD2L1-binding protein" "obsolete excretory apparatus of the lacrimal system anomaly" "obsolete_Alzheimer's disease" "level of Rho guanine nucleotide exchange factor 7 in blood serum" @@ -38311,25 +38312,25 @@ "cullin-9" "obsolete_normal" "zinc fingers and homeoboxes protein 2" - "necrobiosis lipoidica" "level of Bcl-2-like protein 10 in blood serum" "aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome" + "necrobiosis lipoidica" "J774.2 cell" "sporadic fetal brain disruption sequence" "obsolete_paternal 20q13.2q13.3 microdeletion syndrome" - "obsolete_Asian Indian" "1-methyl-5-imidazoleacetate measurement" + "obsolete_Asian Indian" "MDAMB453" + "X-12244--N-acetylcarnosine measurement" "serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha" "assay by instrument" - "X-12244--N-acetylcarnosine measurement" "SPARE" "obsolete_Schnyder corneal dystrophy" "obsolete_benign adult familial myoclonic epilepsy" - "cholesterol to total lipids in very small VLDL percentage " "lateral cord surface glial cell" - "ML-DmD16-c3" + "cholesterol to total lipids in very small VLDL percentage " "Cernunnos-XLF deficiency" + "ML-DmD16-c3" "graft-versus-host disease, susceptibility to" "Vaginal mucosal ulceration" "mg(18:1/0:0/0:0) measurement" @@ -38482,10 +38483,10 @@ "neurocristopathy" "mitochondrial complex 4 deficiency, nuclear type 17" "hemoglobin C disease" + "obsolete_pontocerebellar hypoplasia type 8" "Fibrous Hamartoma of Infancy" "epispadias" "tumor necrosis factor receptor superfamily member EDAR measurement" - "obsolete_pontocerebellar hypoplasia type 8" "benign paroxysmal tonic upgaze of childhood with ataxia" "1-methylguanidine measurement" "obsolete_autosomal recessive proximal renal tubular acidosis" @@ -38504,10 +38505,10 @@ "infectious meningitis" "inflorescence development stage" "corm" - "obsolete_hereditary folate malabsorption" "pancreatic acinus" - "conduction system disorder" + "obsolete_hereditary folate malabsorption" "leucine-rich repeat neuronal protein 1 measurement" + "conduction system disorder" "L-phenylalanine metabolic process" "congenital disorder of glycosylation, type iit" "methylcobalamin deficiency type cblDv1" @@ -38582,8 +38583,8 @@ "dimensionless unit" "C6 glioma cell" "renal overload-type gout"@en - "acneiform dermatitis" "recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome" + "acneiform dermatitis" "ulnar nerve lesion" "Aplasia/Hypoplasia of the corpus callosum" "obsolete_autosomal dominant hypocalcemia" @@ -38653,14 +38654,14 @@ "diacylglycerol 32:0 measurement" "cholesteryl esters to total lipids in small HDL percentage " "cysteine measurement" - "Antley-Bixler syndrome" "intellectual disability-sparse hair-brachydactyly syndrome" + "Antley-Bixler syndrome" "drug-induced liver injury" "ChIP-exo" "5-hydroxy-2-furoic acid measurement" - "mNET-seq" "urethral sphincter" "esophageal carcinoma" + "mNET-seq" "Joubert syndrome 18" "Salmonella enterica subsp. enterica serovar Oranienburg" "uncharacterized protein FAM241A" @@ -38673,9 +38674,9 @@ "haustorium" "putamen volume change measurement"@en "insulin-degrading enzyme measurement" - "Crouzon disease" "anti-social behavior" "inositol oxygenase" + "Crouzon disease" "megalencephaly-capillary malformation-polymicrogyria syndrome" "X-linked myopathy with excessive autophagy" "cardiomyopathy, familial hypertrophic, 4, susceptibility to" @@ -38846,6 +38847,7 @@ "leucine-rich repeat and fibronectin type-III domain-containing protein 2" "level of enoyl-CoA Delta isomerase 2 in blood serum" "antidepressant-induced sexual dysfunction" + "Illumina NovaSeq X"@en "coactosin-like protein measurement" "Paracoccidioides brasiliensis Pb01" "Caenorhabditis component" @@ -38886,12 +38888,12 @@ "protein MTSS 2" "obsolete_dorsal fin musculature" "16-hydroxypalmitate measurement" - "FVB/N"@en "Disturbed sensory perception" "CD69-positive double-positive thymocyte" + "FVB/N"@en "3-Indolepropionic acid to LysoPC 16:0 ratio" - "limb-girdle muscular dystrophy due to POMK deficiency" "myotonic dystrophy type 2" + "limb-girdle muscular dystrophy due to POMK deficiency" "level of UDP-glucuronosyltransferase 1-6 in blood serum" "3-Indolepropionic acid to D-2-Aminobutyric acid ratio" "protein-glutamine gamma-glutamyltransferase 4" @@ -38932,8 +38934,8 @@ "concentrated" "level of acyl-CoA-binding domain-containing protein 6 in blood serum" "NH4_C38:5 DAG_or_TAG_fragment measurement" - "posterior meningocele" "mucocutaneous Leishmaniasis" + "posterior meningocele" "systemic artery" "protein WWC1" "hereditary sclerosing poikiloderma, Weary type" @@ -39051,12 +39053,12 @@ "language disorder" "partial duplication of the short arm of chromosome 8" "GM25256" - "Rare male infertility due to testicular endocrine disorder" "immunoglobulin E measurement" "Mus musculus musculus x M. m. domesticus" - "obsolete_dysplasia epiphysealis hemimelica" + "Rare male infertility due to testicular endocrine disorder" "Methylmalonic acid measurement" "endolymphatic sac" + "obsolete_dysplasia epiphysealis hemimelica" "congenital dyserythropoietic anemia type 2" "level of 60S ribosomal protein L11 in blood serum" "protein C14orf166" @@ -39098,9 +39100,9 @@ "immunoglobulin superfamily member 11 measurement" "poliovirus infection" "obsolete_embryonic hindgut" + "Pneumovirus Infections" "CS57601" "vincristine" - "Pneumovirus Infections" "combined immunodeficiency due to GINS1 deficiency" "BRCA1-associated ATM activator 1" "acropectororenal dysplasia" @@ -39128,8 +39130,8 @@ "encounter with health service for breast reconstruction following mastectomy" "hemojuvelin measurement" "lacrimal gland neoplasm" - "CD59 glycoprotein measurement" "quinolinate measurement" + "CD59 glycoprotein measurement" "YTH domain-containing protein 1" "rapid kidney function decline" "intellectual disability, autosomal dominant 57" @@ -39170,8 +39172,8 @@ "obsolete_distal monosomy 14q" "SLP adapter and CSK-interacting membrane protein" "level of hepatocyte nuclear factor 4-alpha in blood serum" - "obsolete_Saethre-Chotzen syndrome" "Hemoglobin G Coushatta to Total Hemoglobin Ratio Measurement" + "obsolete_Saethre-Chotzen syndrome" "Persea americana" "anti-anoctamin 2 antibody measurement" "BOSC-23 cell" @@ -39222,11 +39224,11 @@ "neurodevelopmental disorder with absent language and variable seizures" "serine/threonine-protein kinase MRCK alpha measurement" "alpha-N-acetylgalactosaminidase deficiency type 1" - "sumo-conjugating enzyme UBC9 measurement" "regenerating islet-derived protein 3-alpha measurement" + "sumo-conjugating enzyme UBC9 measurement" + "TTC549" "insulin-resistance syndrome type B" "Proximal tibial hypoplasia" - "TTC549" "Primrose syndrome" "3-Indolepropionic acid to Trimethylamine N-oxide ratio" "autoinflammatory disease, multisystem, with immune dysregulation, X-linked" @@ -39245,11 +39247,11 @@ "ovarian epithelial tumor" "radial neuropathy" "Oculoauricular syndrome, Schorderet type" - "X-linked spastic paraplegia type 34" "atopic march" "BolA-like protein 3" "musical aptitude" "Abnormal hair pattern" + "X-linked spastic paraplegia type 34" "post-operative acute kidney injury" "intellectual developmental disorder, autosomal dominant 65" "pyogenic arthritis-pyoderma gangrenosum-acne syndrome" @@ -39353,9 +39355,9 @@ "Hypernasal speech" "obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy" "obsolete_immunodeficiency with factor H anomaly" - "cholesteryl esters to total lipids in small LDL percentage " "acquired Fanconi syndrome" "intermediate trophoblast cell" + "cholesteryl esters to total lipids in small LDL percentage " "developmental and epileptic encephalopathy, 35" "level of peroxisome proliferator-activated receptor alpha in blood serum" "5-hydroxytryptophan measurement" @@ -39398,8 +39400,8 @@ "diaphragmatic eventration" "level of peptidyl-prolyl cis-trans isomerase FKBP5 in blood serum" "transcriptional activator protein Pur-alpha" - "asbestos" "amyloid beta precursor like protein 2" + "asbestos" "Chia-PET" "chromosome 2q32-q33 deletion syndrome" "Single umbilical artery" @@ -39478,6 +39480,7 @@ "Brassica carinata" "level of transmembrane and immunoglobulin domain-containing protein 2 in blood serum" "tandem mass spectrometry" + "Illumina NovaSeq X Plus"@en "Pneumonia" "cathasterone" "obsolete_partial duplication of the short arm of chromosome 4" @@ -39546,12 +39549,12 @@ "beta-1,4-galactosyltransferase 2" "3-hydroxyhippurate measurement" "microtubule-associated proteins 1A/1B light chain 3 beta 2" + "Spastic paraplegia-optic atrophy-neuropathy syndrome" "prostate and testis expressed protein 1 measurement" "filamin-A measurement" "Lupus Vasculitis, Central Nervous System" "intellectual disability, autosomal recessive 57" "delta-5 desaturase measurement" - "Spastic paraplegia-optic atrophy-neuropathy syndrome" "oculocutaneous albinism type 8" "CD7-positive lymphoid progenitor cell" "Parkinson disease 24, autosomal dominant, susceptibility to" @@ -39597,10 +39600,10 @@ "jejunal neoplasm" "obsolete_sirenomelia" "obsolete_Autosomal dominant neovascular inflammatory vitreoretinopathy" + "bile salt-activated lipase measurement" "Jiyoye" "endoglin measurement" "hypertrophic cardiomyopathy 13" - "bile salt-activated lipase measurement" "apical ectodermal ridge pelvic fin bud" "lectin-like oxidized LDL receptor 1 measurement" "Microglossia" @@ -39707,10 +39710,10 @@ "annexin A11" "Genetic renal tubular disease" "ascending colon cancer" - "La Crosse virus" "obsolete_partial duplication of the long arm of chromosome 17" - "melanoma staging" + "La Crosse virus" "gap junction delta-2 protein measurement" + "melanoma staging" "cytological, histological or immunological finding" "ubiquitin-conjugating enzyme E2 W" "Rett syndrome" @@ -39752,16 +39755,16 @@ "homeobox protein MOX-2" "mitochondrial ubiquitin ligase activator of NFKB 1 measurement" "obsolete_Arbisopsis thaliana" - "splenocyte" "response to Par-4 dependent chemotherapy"@en + "splenocyte" "brachydactyly type B" "liver" "digestive system surgery"@en "autosomal dominant omodysplasia" "papillary lung adenocarcinoma" - "fatty acid-binding protein; liver measurement" "level of NEDD8-activating enzyme E1 catalytic subunit in blood serum" "hereditary angioedema with C1Inh deficiency" + "fatty acid-binding protein; liver measurement" "Richter syndrome" "YCC16" "Increased red blood cell mass" @@ -39878,9 +39881,9 @@ "circadian sleep/wake cycle, non-REM sleep" "Weaver syndrome" "obsolete_distal portion of anterior interventricular branch of left coronary artery" + "serine/threonine-protein kinase PAK 4 measurement" "neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia" "polydactyly of an index finger, bilateral" - "serine/threonine-protein kinase PAK 4 measurement" "regulator of G-protein signaling 10 measurement" "superoxide dismutase [Cu-Zn] measurement" "obsolete_clinical factor" @@ -40065,8 +40068,8 @@ "surfeit locus protein 1" "Pseudofolliculitis barbae" "complement component C1q receptor measurement" - "rhinoscleroma" "Autosomal recessive early-onset inflammatory bowel disease" + "rhinoscleroma" "selenide, water dikinase 1" "menarche" "bilateral frontoparietal polymicrogyria" @@ -40082,10 +40085,10 @@ "level of nuclear factor erythroid 2-related factor 2 in blood serum" "urachus" "mRNA-decapping enzyme 1A" + "disintegrin and metalloproteinase domain-containing protein 12 measurement" "protein NDRG2" "Japan"@en "Japan" - "disintegrin and metalloproteinase domain-containing protein 12 measurement" "obsolete_refractive error" "obsolete inherited prion disease" "coronary vessel" @@ -40108,8 +40111,8 @@ "obsolete_Autosomal recessive syndromic optic atrophy" "iron ion homeostasis" "obsolete_Robinow syndrome" - "hydrarthrosis" "gamma-aminobutyric acid receptor-associated protein-like 1" + "hydrarthrosis" "bone measurement" "Familial retinoblastoma" "tax1-binding protein 3 measurement" @@ -40156,11 +40159,11 @@ "obsolete_X and Y chromosomal anomaly" "level of GMP reductase 2 in blood serum" "diencephalic cancer" + "diacylglycerol 33:1 measurement" "embryonic central nervous system" "carotid plaque build" "eukaryotic tRNA pseudouridine synthase A" "GM12878" - "diacylglycerol 33:1 measurement" "ChIRP" "1,2-dilinoleoyl-GPC (18:2/18:2) measurement" "bronchiole" @@ -40173,19 +40176,20 @@ "Leukoencephalopathy - thalamus and brainstem anomalies - high lactate" "septic abortion" "stapes ankylosis with broad thumbs and toes" + "mosaic loss of chromosome X measurement"@en "glycosyl ceramide (d18:1/20:0, d16:1/22:0) measurement" "newly molted young adult hermaphrodite" "myopia" "level of microfibril-associated glycoprotein 3 in blood serum" "level of interleukin-17 receptor D in blood serum" "level of S-arrestin in blood serum" - "obsolete_lipoid proteinosis" "obsolete_hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome" - "Autosomal recessive spastic paraplegia type 11" "transcription factor SOX-6" + "Autosomal recessive spastic paraplegia type 11" "hip osteoarthritis symptom severity measurement" "level of Rab-like protein 6 in blood serum" "ILSXISS#/Tej" + "obsolete_lipoid proteinosis" "PTB-Seq" "insulin-like growth factor-binding protein 1 measurement" "migraine with or without aura, susceptibility to" @@ -40228,8 +40232,8 @@ "body of pancreas" "level of polypeptide N-acetylgalactosaminyltransferase 13 in blood serum" "Eubalaena glacialis" - "progressive familial intrahepatic cholestasis type 1" "level of epididymal-specific lipocalin-10 in blood serum" + "progressive familial intrahepatic cholestasis type 1" "hemin" "level of carbonic anhydrase-related protein in blood serum" "Thomsen and Becker disease" @@ -40239,8 +40243,8 @@ "common dendritic progenitor" "myristate 14:0 measurement" "IgG-positive double negative memory B cell" - "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3" "Tay-Sachs disease, b variant, infantile form" + "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3" "microphthalmia, isolated, with coloboma 7" "Isolated anophthalmia - microphthalmia" "cutaneous precancerous condition" @@ -40265,9 +40269,9 @@ "palmitoleate" "biomarker" "ring chromosome disorder" - "transcription regulator protein BACH2 measurement" "adenosine triphosphatase deficiency, anemia due to" "isolated thyroid-stimulating hormone deficiency" + "transcription regulator protein BACH2 measurement" "metastatic malignant neoplasm" "obsolete_microcephalic primordial dwarfism, Alazami type" "gonococcal prostatitis" @@ -40345,8 +40349,8 @@ "Zea mays subsp. mays" "NCI-H727" "antidepressant-induced hearing impairment" - "alpha-1,3/1,6-mannosyltransferase ALG2" "obsolete_Ulbright-Hodes syndrome" + "alpha-1,3/1,6-mannosyltransferase ALG2" "anatomical system" "small cell carcinoma" "Sjogren-Larsson syndrome" @@ -40426,8 +40430,8 @@ "combined oxidative phosphorylation deficiency 43" "pancreatic carcinoma with mixed differentiation" "biliverdin reductase A measurement" - "obsolete_buttock" "Atonic seizure" + "obsolete_buttock" "chymotrypsin-like elastase family member 3B measurement" "obsolete nitrogen compound metabolic process" "arthus reaction" @@ -40464,8 +40468,8 @@ "adrenal cortex" "mucinous ovarian cancer" "obsolete_carnitine palmitoyl transferase 1A deficiency" - "nemonapride" "level of tumor necrosis factor alpha-induced protein 3 in blood serum" + "nemonapride" "endomyometritis" "level of appetite-regulating hormone in blood serum" "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" @@ -40476,8 +40480,8 @@ "autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" "hyperlipidemia" "Abnormal toenail morphology" - "response to nivolumab"@en "obsolete_Caucasian" + "response to nivolumab"@en "Spinocerebellar ataxia type 42" "phenol sulfate measurement" "hyperargininemia" @@ -40532,8 +40536,8 @@ "level of syntaphilin in blood serum" "toxicity" "aphalangy-syndactyly-microcephaly syndrome" - "shoulder fracture" "B-cell acute lymphoblastic leukemia" + "shoulder fracture" "regulation of action potential" "obsolete_closed iniencephaly" "myeloproliferative disorder" @@ -40558,8 +40562,8 @@ "large ribosomal subunit protein mL38" "obsolete_neurogenic palpebral tumor" "persistent Staphylococcus aureus carrier status" - "level of insulin-like growth factor-binding protein 3 in blood serum" "Gingival fibromatosis - progressive deafness" + "level of insulin-like growth factor-binding protein 3 in blood serum" "jejunal neuroendocrine tumor, well differentiated, low or intermediate grade" "coatomer subunit epsilon" "obsolete_Huntington disease-like syndrome due to C9ORF72 expansions" @@ -40722,9 +40726,9 @@ "TTN-related myopathy" "bacterial endocarditis" "level of poly(A) RNA polymerase, mitochondrial in blood serum" - "gamma-aminobutyric acid receptor-associated protein-like 2" "obsolete_acheiria" "obsolete_Spondyloenchondrodysplasia" + "gamma-aminobutyric acid receptor-associated protein-like 2" "obsolete_coxoauricular syndrome" "level of serine/arginine-rich splicing factor 6 in blood serum" "level of C4b-binding protein alpha chain in blood serum" @@ -40760,15 +40764,15 @@ "obsolete_heart-hand syndrome type 2" "hereditary sebaceous gland anomaly" "HCC1171" - "obsolete_X-linked recessive optic atrophy" "ATP-citrate synthase measurement" "4p16.3 microduplication syndrome" + "obsolete_X-linked recessive optic atrophy" "obsolete_hypotonia with lactic acidemia and hyperammonemia" "Unilateral renal hypoplasia" - "Thrombocytopenia - absent radius" "level of small integral membrane protein 13 in blood serum" "medullary thyroid gland carcinoma" "GM17251" + "Thrombocytopenia - absent radius" "tenascin-X measurement" "5C" "1-methylhistamine measurement" @@ -40890,8 +40894,8 @@ "obsolete_heart conduction system" "Pachycladon novaezelandiae" "obsolete cellular nitrogen compound biosynthetic process" - "Genetic renal or urinary tract malformation" "renal colic" + "Genetic renal or urinary tract malformation" "gum cancer" "apoptotic amnioserosa" "hyperinsulinemic hypoglycemia, familial, 4" @@ -40993,8 +40997,8 @@ "Gastric Choriocarcinoma" "X-21383 measurement" "vagina leiomyosarcoma" - "level of beta-defensin 103 in blood serum" "HBL100" + "level of beta-defensin 103 in blood serum" "obsolete_tooth ankylosis" "obsolete_ring chromosome 3" "GM10847" @@ -41028,14 +41032,14 @@ "serine--tRNA ligase, mitochondrial measurement" "anti-Mullerian hormone measurement" "multiple congenital anomalies-hypotonia-seizures syndrome 1" + "Umbilical cord ulceration - intestinal atresia" "obsolete_Kabuki syndrome" "Rare syndrome with cardiac malformations" - "Umbilical cord ulceration - intestinal atresia" + "taxonomic microbiome measurement" "obsolete_large intestine primordium" "response to serotonin-norephinephrine reuptake inhibitor" "Calyptogena magnifica symbiont" "bone disease" - "taxonomic microbiome measurement" "multicellular organism" "obsolete_cell line" "spinal muscular atrophy" @@ -41151,8 +41155,8 @@ "BMP-binding endothelial regulator protein measurement" "Childhood onset" "obsolete autosomal recessive lymphoproliferative disease" - "nicotinamide measurement" "epidermolysis bullosa simplex" + "nicotinamide measurement" "EC 3.1.1.8 (cholinesterase) inhibitor" "immune system" "N-acylethanolamine measurement" @@ -41171,9 +41175,9 @@ "Eyebrow/eyelashes distichiasis" "vitamin D-dependent rickets, type 1" "ragulator complex protein LAMTOR2" - "obsolete_heart-hand syndrome type 3" "AIDS" "osteoarthritis biomarker measurement" + "obsolete_heart-hand syndrome type 3" "level of disintegrin and metalloproteinase domain-containing protein 32 in blood serum" "chondroitin sulfate N-acetylgalactosaminyltransferase 2" "L1 syndrome" @@ -41194,8 +41198,8 @@ "fracture of pelvis" "Sulfolobus solfataricus P2" "sphingomyeline C24:1 measurement" - "age of onset of Machado-Joseph disease" "obsolete_intellectual disability-seizures-macrocephaly-obesity syndrome" + "age of onset of Machado-Joseph disease" "level of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B in blood serum" "Hemoglobin S Measurement" "Ovarian Dysgerminoma" @@ -41246,9 +41250,9 @@ "obsolete_Proteus syndrome" "obsolete_clinical history age" "arsenite methyltransferase" + "hydroxypalmitoyl sphingomyelin (d18:1/16:0(OH)) measurement" "RARseq" "Reunion island Larsen syndrome" - "hydroxypalmitoyl sphingomyelin (d18:1/16:0(OH)) measurement" "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" "brain connectivity measurement" "level of DNA replication complex GINS protein PSF1 in blood serum" @@ -41342,8 +41346,8 @@ "adenohypophysis" "phosphatidylcholine 38:4" "Klippel-Trénaunay syndrome" - "acute myeloid leukemia, inv(16)(p13.1;q22)" "rap1 GTPase-activating protein 1 measurement" + "acute myeloid leukemia, inv(16)(p13.1;q22)" "mIMCD-3" "level of U11/U12 small nuclear ribonucleoprotein 25 kDa protein in blood serum" "minor salivary gland" @@ -41458,8 +41462,8 @@ "decreased anxiety-related response" "level of G-protein coupled receptor 135 in blood serum" "neutrophil cytosol factor 2 measurement" - "level of PRA1 family protein 3 in blood serum" "Mitochondrial inheritance" + "level of PRA1 family protein 3 in blood serum" "level of Phosphatidylethanolamine (O-18:1_18:2) in blood serum" "high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor" "Pachycladon" @@ -41467,8 +41471,8 @@ "phenyl hydrogen sulfate" "testosterone" "congenital pulmonary lymphangiectasia" - "papillary cystadenoma" "Dental malocclusion" + "papillary cystadenoma" "single Ig IL-1-related receptor" "non-renal secondary hyperparathyroidism" "(1->3)-beta-D-glucan" @@ -41596,10 +41600,10 @@ "disopyramide" "distal trisomy 7p" "J.CaM2.5"@en + "tensin-2 measurement" "GM17258" "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" "bone quantitative ultrasound measurement" - "tensin-2 measurement" "Philippines"@en "Philippines" "Impaired vibration sensation in the lower limbs" @@ -41614,8 +41618,8 @@ "1-stearoyl-2-oleoyl-GPS (18:0/18:1) measurement" "C34:2 phosphatidylethanolamine plasmalogen measurement" "5-dodecenoylcarnitine (C12:1) measurement" - "Wistar-Kyoto" "triacylglycerol 56:10 measurement"@en + "Wistar-Kyoto" "serum non-albumin protein measurement" "autosomal dominant nonsyndromic hearing loss 17" "cerebellin-1" @@ -41670,8 +41674,8 @@ "prostate calculus" "level of C-C motif chemokine 2 in blood serum" "alar cartilages hypoplasia-coloboma-telecanthus syndrome" - "calponin-1" "Paraplegia - intellectual disability - hyperkeratosis" + "calponin-1" "autoimmune oophoritis" "Cenchrus americanus" "X-21410 measurement" @@ -41794,8 +41798,8 @@ "magnesium deficiency" "level of ski-like protein in blood serum" "mature CD16-positive myeloid dendritic cell" - "chorea, benign familial" "anterior segment dysgenesis 4" + "chorea, benign familial" "vitamin transport" "level of selenocysteine lyase in blood serum" "partial epilepsy" @@ -41817,8 +41821,8 @@ "15q11.2 microdeletion syndrome" "level of tryptophan--tRNA ligase, mitochondrial in blood serum" "carotid artery occlusion" - "U3118MG" "tooth disease" + "U3118MG" "obsolete rare female infertility due to adrenal disorder of genetic origin" "Blau syndrome" "Fanconi anemia complementation group I" @@ -41898,9 +41902,9 @@ "retinoic acid receptor RXR-alpha" "level of transcription factor ATOH1 in blood serum" "aspirin hydrolysis measurement" - "obsolete_frontometaphyseal dysplasia" "3 prime tag" "level of methenyltetrahydrofolate synthase domain-containing protein in blood serum" + "obsolete_frontometaphyseal dysplasia" "N,N-Dimethylglycine measurement" "spiral organ of cochlea" "neuralgic amyotrophy" @@ -41913,11 +41917,11 @@ "ILSXISS94/TejJ" "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" "Genetic skin vascular disorder" - "insect dorsal epidermis primordium" "Eyebrow/eyelashes hypertrichosis" + "insect dorsal epidermis primordium" + "Multiple non-ossifying fibromatosis" "response to recombinant tissue-plasminogen activator" "heparin cofactor 2 deficiency" - "Multiple non-ossifying fibromatosis" "obsolete_alopecia antibody deficiency" "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies" "methylmalonyl-CoA epimerase, mitochondrial measurement" @@ -41981,8 +41985,8 @@ "Methemoglobin to Total Hemoglobin Ratio Measurement" "asparaginase hypersensitivity" "nasal brush" - "large ribosomal subunit protein eL38" "DNA extraction protocol"@en + "large ribosomal subunit protein eL38" "leucylleucine measurement" "PSAT deficiency" "test result" @@ -42021,8 +42025,8 @@ "olmesartan" "harderoporphyria" "atrophic macular degeneration" - "age of onset of major depressive disorder" "esophagus squamous cell papilloma" + "age of onset of major depressive disorder" "level of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C in blood serum" "level of interleukin-27 receptor subunit alpha in blood serum" "mosaic variegated aneuploidy syndrome" @@ -42086,8 +42090,8 @@ "level of protein LDOC1 in blood serum" "Isolated distichiasis" "hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome" - "Webb-Dattani syndrome" "histidine betaine (hercynine) measurement" + "Webb-Dattani syndrome" "obsolete_sarcoidosis" "Paroxysmal exertion-induced dyskinesia" "obsolete_xeroderma pigmentosum" @@ -42103,8 +42107,8 @@ "zona pellucida-binding protein 2" "hearing loss, noise-induced, susceptibility to" "initial pursuit acceleration" - "WNT1-inducible-signaling pathway protein 3 measurement" "zinc finger protein 334" + "WNT1-inducible-signaling pathway protein 3 measurement" "level of casein kinase I isoform gamma-2 in blood serum" "beta-nerve growth factor measurement" "low affinity immunoglobulin gamma Fc region receptor II-a/b measurement" @@ -42115,9 +42119,9 @@ "myoclonus, familial" "level of Ras-related protein Rab-4A in blood serum" "obsolete_mitral valve" - "Autosomal dominant Charcot-Marie-Tooth disease type 2N" "prostaglandins measurement" "very low density lipoprotein cholesterol measurement" + "Autosomal dominant Charcot-Marie-Tooth disease type 2N" "N-acetyltryptophan measurement" "thymus atrophy" "Calcium oxalate nephrolithiasis" @@ -42149,8 +42153,8 @@ "12-oxo-ETE measurement" "pre-conventional dendritic cell" "isolated congenital anonychia" - "prostaglandin E synthase 3" "torsades de pointes" + "prostaglandin E synthase 3" "level of endothelin-1 in blood serum" "Pitt-Hopkins-like syndrome 2" "GM15224" @@ -42200,8 +42204,8 @@ "protein deglycosylation" "congenital nemaline myopathy" "carotid artery dissection" - "obsolete_Revesz syndrome" "level of histone-lysine N-methyltransferase ASH1L in blood serum" + "obsolete_Revesz syndrome" "tyrosine kinase inhibitor" "Pipecolinic acid measurement" "obsolete_KBG syndrome" @@ -42213,8 +42217,8 @@ "glutathione S-transferase mu 4" "WW domain-binding protein 2" "CMLT1" - "BMI-adjusted fasting blood insulin measurement" "obsolete_progressive supranuclear palsy" + "BMI-adjusted fasting blood insulin measurement" "protein Wnt-11" "deafness, congenital heart defects, and posterior embryotoxon" "strain or line design" @@ -42306,13 +42310,13 @@ "level of homer protein homolog 3 in blood serum" "8505C" "benign synovial neoplasm" - "Antisynthetase syndrome" - "2-butenoylglycine measurement" "immunodeficiency 106, susceptibility to viral infections" "Gasterosteus aculeatus" - "triacylglycerol 56:2 measurement"@en + "Antisynthetase syndrome" + "2-butenoylglycine measurement" "partial trisomy/tetrasomy of chromosome 18" "Syracuse High Avoidance" + "triacylglycerol 56:2 measurement"@en "brain serotonin transporter measurement" "penile sarcoma" "cerebellin-2" @@ -42338,9 +42342,9 @@ "hypotaurine measurement"@en "CXCL12 measurement" "phenothiazine antipsychotic drug" + "regulator of G-protein signaling 8 measurement" "bronchus carcinoma in situ" "GM18507" - "regulator of G-protein signaling 8 measurement" "level of beta-enolase in blood serum" "level of voltage-gated potassium channel subunit KCNA10 in blood serum" "hemorrhagic fever with renal syndrome" @@ -42499,10 +42503,10 @@ "level of actin nucleation-promoting factor WAS in blood serum" "HCC1143" "Treponema infectious disease" + "obsolete_bulbospinal muscular atrophy" "X-13496 measurement" "plexin-B3" "BFTC905" - "obsolete_bulbospinal muscular atrophy" "Bladder Squamous Cell Carcinoma" "sphingomyeline C26:1 measurement" "parasitic endophthalmitis" @@ -42545,26 +42549,26 @@ "birth measurement" "tooth 4V" "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" - "O-methyleugenol" "B-cell CLL/lymphoma 7 protein family member A" + "O-methyleugenol" "26S proteasome non-ATPase regulatory subunit 10" "block" "probable N-acetyltransferase 14" "obsolete_mitochondrial trifunctional protein deficiency" - "MM.1S" "level of CD9 molecule in blood serum" "anaplastic oligodendroglioma" + "MM.1S" "chromosome 13q14 deletion syndrome" "Hofbauer cell" "tetradecadienedioate (C14:2-DC) measurement" "10x sequencing protocol" "atmosphere unit" "Syndromic diarrhea" - "obsolete_Fraser syndrome" "asymptomatic myeloma" - "Acromelic frontonasal dysplasia" + "obsolete_Fraser syndrome" "N6-Acetyl-L-lysine measurement" "rib" + "Acromelic frontonasal dysplasia" "Lassa fever" "BAFopathy" "spastic paraplegia-Paget disease of bone syndrome" @@ -42574,8 +42578,8 @@ "Keratocystic odontogenic tumor" "Acetabular dysplasia" "obsolete_oculodentodigital dysplasia" - "trigeminal neuralgia" "MICOS complex subunit MIC26 measurement" + "trigeminal neuralgia" "lipid localization" "obsolete_11p15.4 microduplication syndrome" "obsolete_sterile multifocal osteomyelitis with periostitis and pustulosis" @@ -42626,10 +42630,10 @@ "DnaJ homolog subfamily C member 18 measurement" "bone morphogenetic protein 10 measurement" "vulvar eccrine adenocarcinoma" + "protein binding measurement"@en "Oxyhemoglobin to Total Hemoglobin Ratio Measurement" "level of interleukin-28 receptor alpha chain in blood serum" "obsolete_avelline corneal dystrophy" - "protein binding measurement"@en "junctional epidermolysis bullosa" "skin meningioma" "Long Evans"@en @@ -42652,8 +42656,8 @@ "cystic, mucinous, and serous neoplasm" "obsolete_pontocerebellar hypoplasia type 3" "fibroblast growth factor 23 measurement" - "spindle cell intraocular melanoma" "X-linked endothelial corneal dystrophy" + "spindle cell intraocular melanoma" "Plasmodium vivax malaria" "level of ezrin in blood serum" "level of glycolipid transfer protein domain-containing protein 2 in blood serum" @@ -42667,14 +42671,14 @@ "MED-MEB-8A"@en "acute myeloid leukemia, t(15;17)(q24;q21)" "obsolete_familial multiple fibrofolliculoma" - "level of U2 small nuclear ribonucleoprotein B'' in blood serum" "obsolete_hemifacial hypertrophy" + "level of U2 small nuclear ribonucleoprotein B'' in blood serum" "sublingual gland" "intellectual disability, Wolff type" "21-hydroxypregnenolone disulfate measurement" "sphinganine measurement" - "engulfment and cell motility protein 1 measurement" "C57BL/10" + "engulfment and cell motility protein 1 measurement" "ADP-ribose glycohydrolase MACROD2" "pulmonary fibrosis" "Illumina NextSeq 2000" @@ -42784,14 +42788,14 @@ "obsolete_apodia" "bacterial pneumonia" "GM14508" - "core-binding factor subunit beta" "1-oleoyl-2-arachidonoyl-GPE (18:1/20:4) measurement" + "core-binding factor subunit beta" "obsolete_Roberstonian translocation" "disseminated superficial actinic porokeratosis" "obsolete_ophthalmomandibulomelic dysplasia" + "1-oleoylglycerol 1-monoolein measurement" "level of Ras-related protein Rab-4B in blood serum" "nucleoside diphosphate kinase 7" - "1-oleoylglycerol 1-monoolein measurement" "family history of prostate cancer" "focal adhesion kinase 1 measurement" "level of RNA-binding protein 41 in blood serum" @@ -42846,8 +42850,8 @@ "cathelicidin antimicrobial peptide" "Genetic respiratory malformation" "Retinal degeneration - nanophthalmos - glaucoma" - "sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase measurement" "obsolete_X-linked intellectual disability, Porteous type" + "sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase measurement" "sample dissociation" "bacterial myocarditis" "obsolete_heart tube" @@ -42879,8 +42883,8 @@ "GM14568" "obsolete_aspirin induced asthma" "giant cell reparative granuloma" - "glycogen storage disease IXd" "obsolete_Glycogen storage disease due to liver glycogen phosphorylase deficiency" + "glycogen storage disease IXd" "39S ribosomal protein L33, mitochondrial measurement" "Alexa Fluor 647" "trigeminal schwannoma" @@ -42925,9 +42929,9 @@ "obsolete_colon neoplasm" "level of neuronal acetylcholine receptor subunit alpha-5 in blood serum" "congenital bile acid synthesis defect 1" - "level of nuclear transcription factor Y subunit alpha in blood serum" - "obsolete perlecan-related bone disorder" "desmoplastic medulloblastoma" + "obsolete perlecan-related bone disorder" + "level of nuclear transcription factor Y subunit alpha in blood serum" "autosomal recessive titinopathy" "thyroid cancer, nonmedullary, 4" "atrioventricular septum" @@ -42947,10 +42951,10 @@ "obsolete_inherited arrhythmia" "obsolete_glycogen storage disease due to acid maltase deficiency, infantile onset" "obsolete_bilateral multicystic dysplastic kidney" - "Thrombocytopenia - Robin sequence" "GM17256" "congenital bile acid synthesis defect 5" "bone fracture related measurement" + "Thrombocytopenia - Robin sequence" "testican-3 measurement" "primary optic atrophy" "proenkephalin-B" @@ -42962,8 +42966,8 @@ "600MPE" "obsolete_isolated focal cortical dysplasia type Ia" "1,2-dipalmitoyl-GPC (16:0/16:0) measurement" - "integumental system" "gamma-glutamylleucine measurement" + "integumental system" "red color blindness" "(S)-azetidine-2-carboxylic acid" "Syracuse Low Avoidance" @@ -42971,8 +42975,8 @@ "UV light regimen" "inhibitor of nuclear factor kappa-B kinase subunit beta" "ankylosing spondylitis disease activity score"@en - "sphingomyelin (d18:2/21:0, d16:2/23:0) measurement" "NCI-H1693" + "sphingomyelin (d18:2/21:0, d16:2/23:0) measurement" "polyamine-modulated factor 1" "complement C1r subcomponent-like protein" "inhalation anaesthetic" @@ -43009,16 +43013,16 @@ "Autosomal recessive Charcot Marie Tooth disease type 2X" "partial duplication of chromosome 19" "21q22.13q22.2 microdeletion syndrome" - "GTPase kras measurement" "glans penis cancer" + "GTPase kras measurement" "level of interleukin-1 family member 9 in blood serum" "citrulline" "hematopoietic and lymphoid system neoplasm" "level of histone deacetylase complex subunit SAP30 in blood serum" "radiation quantity regimen" "familial patent arterial duct" - "tiredness measurement" "Lens subluxation" + "tiredness measurement" "obsolete_oculocerebrorenal syndrome" "level of VPS10 domain-containing receptor SorCS3 in blood serum" "Treponema denticola" @@ -43166,12 +43170,12 @@ "spectrin alpha chain, non-erythrocytic 1 measurement" "serine/threonine-protein kinase DCLK3 measurement" "3-methylglutarylcarnitine (2) measurement" + "obsolete_Upington disease" "obsolete_2p21 microdeletion syndrome" "obsolete_response to venlafaxine" "methylnaphthyl sulfate (1) measurement" "level of aldehyde dehydrogenase X, mitochondrial in blood serum" "DDT metabolite measurement" - "obsolete_Upington disease" "Smith-Lemli-Opitz syndrome" "urothelial carcinoma" "jejunal adenocarcinoma" @@ -43186,8 +43190,8 @@ "osteoporosis-pseudoglioma syndrome" "level of CYFIP-related Rac1 interactor B in blood serum" "obsolete_disorder of zinc metabolism" - "X-21442 measurement" "choroidal dystrophy, central areolar, 1" + "X-21442 measurement" "immunodeficiency 74, COVID-19-related, X-linked" "autoimmune urticaria" "immature NK T cell stage IV" @@ -43310,13 +43314,13 @@ "childhood central nervous system germinoma" "Populus balsamifera" "ventral hyoid arch skeleton" - "DnaJ homolog subfamily C member 27 measurement" "isocitric acid" "spinocerebellar ataxia type 12" "vacuolar protein sorting-associated protein 4A" "level of interleukin-31 receptor A in blood serum" "level of methylated-DNA--protein-cysteine methyltransferase in blood serum" "atypical hypotonia-cystinuria syndrome" + "DnaJ homolog subfamily C member 27 measurement" "gap junction alpha-1 protein" "intellectual disability-hypotonia-skin hyperpigmentation syndrome" "Bacteroides" @@ -43458,8 +43462,8 @@ "obsolete rare familial disorder with hypertrophic cardiomyopathy" "obsolete_gnathodiaphyseal dysplasia" "prolyl 4-hydroxylase subunit alpha-2" - "protein S deficiency" "tyrosine-protein kinase transmembrane receptor ROR2 measurement" + "protein S deficiency" "Bos taurus" "Reticulocyte Corpuscular Hemoglobin Concentration Mean" "GM17275" @@ -43510,8 +43514,8 @@ "psoriasis vulgaris" "gelsolin measurement" "lutein measurement" - "rectum leiomyoma" "obsolete_symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers" + "rectum leiomyoma" "PAIR" "BAG family molecular chaperone regulator 2" "Premature rupture of membranes" @@ -43560,8 +43564,8 @@ "obsolete_Weissenbacher- Zweymuller syndrome" "Increased erythrocyte protoporphyrin concentration" "scChIP-seq" - "level of chondromodulin-1 in blood serum" "glossitis" + "level of chondromodulin-1 in blood serum" "3-methylbenzyl alcohol" "cartilage oligomeric matrix protein" "obsolete_Kandori fleck retina" @@ -43675,8 +43679,8 @@ "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" "level of interleukin-1 receptor accessory protein in blood serum" "response to secukinumab"@en - "sphingomyelin (d17:2/16:0, d18:2/15:0) measurement" "level of prenylcysteine oxidase-like in blood serum" + "sphingomyelin (d17:2/16:0, d18:2/15:0) measurement" "NCI-H1734" "level of histone deacetylase complex subunit SAP30L in blood serum" "obsolete_8p11.2 deletion syndrome" @@ -43723,8 +43727,8 @@ "level of polypeptide N-acetylgalactosaminyltransferase 9 in blood serum" "level of protein-arginine deiminase type-2 in blood serum" "level of protein FAM110A in blood serum" - "S-(5-Adenosy)-L-homocysteine measurement" "level of UPF0692 protein C19orf54 in blood serum" + "S-(5-Adenosy)-L-homocysteine measurement" "necrosis of pituitary" "complicated appendicitis"@en "WD repeat-containing protein 18" @@ -43754,8 +43758,8 @@ "Absent vertebral body mineralization" "rickets" "obsolete_Keutel syndrome" - "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome" "obsolete_pseudohypoaldosteronism type 1" + "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome" "nitrate" "papillary epithelial neoplasm" "CHILD syndrome" @@ -43865,8 +43869,8 @@ "protocadherin gamma-A2" "tachykinin-3 measurement" "valine change measurement" - "11-HETE" "hyperphosphatasia-intellectual disability syndrome" + "11-HETE" "melanin measurement"@en "Abnormally lax or hyperextensible skin" "cuneus cortex volume measurement"@en @@ -43882,8 +43886,8 @@ "Cerebellar vermis hypoplasia" "microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum" "serine/threonine-protein kinase ULK3 measurement" - "N-formylphenylalanine measurement" "renal papilla" + "N-formylphenylalanine measurement" "obsolete_response to citalopram" "methylnaphthyl sulfate (2) measurement" "level of aldehyde dehydrogenase, mitochondrial in blood serum" @@ -43932,8 +43936,8 @@ "obsolete_Amelogenesis imperfecta - nephrocalcinosis" "tooth hard tissue disease" "obsolete_Oculofaciocardiodental syndrome" - "microfibrillar-associated protein 1 measurement" "SNU-638" + "microfibrillar-associated protein 1 measurement" "malignant carotid body paraganglioma" "Johanson-Blizzard syndrome" "SQ-5" @@ -44011,8 +44015,8 @@ "obsolete_CANDLE syndrome" "early placenta insulin-like peptide" "tumoral calcinosis, hyperphosphatemic, familial, 2" - "chromosome Xp11.23-p11.22 duplication syndrome" "Dysplasia of Larynx" + "chromosome Xp11.23-p11.22 duplication syndrome" "Abnormality of the cardiovascular system" "kynurenine 3-monooxygenase" "true unicornuate uterus" @@ -44040,8 +44044,8 @@ "obsolete_congenital elbow dislocation" "cardiac germ cell tumor" "nitrogen atom" - "Microtia - eye coloboma - imperforation of the nasolacrimal duct" "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis" + "Microtia - eye coloboma - imperforation of the nasolacrimal duct" "C-C motif chemokine 21 measurement" "level of thrombospondin type-1 domain-containing protein 1 in blood serum" "GM13883" @@ -44090,8 +44094,8 @@ "Mendelian susceptibility to mycobacterial diseases" "obsolete_cochlea structure" "inflammatory bowel disease 25" - "scrotum basal cell carcinoma" "obsolete_congenital vitreoretinal dysplasia" + "scrotum basal cell carcinoma" "guanine nucleotide-binding protein G(k) subunit alpha measurement" "Be2 cell" "BEST1-related recessive retinopathy" @@ -44099,12 +44103,12 @@ "tumor necrosis factor receptor superfamily member 25 measurement" "cleft lip/palate-intestinal malrotation-cardiopathy syndrome" "salt treatment" - "R-6-hydroxywarfarin measurement" "hereditary intrinsic factor deficiency" "X inactivation, familial skewed" + "R-6-hydroxywarfarin measurement" "Salmonella enterica subsp. enterica serovar Typhi" - "PBRM1-related BAFopathy" "phosphatidylcholine O-38:0" + "PBRM1-related BAFopathy" "level of PAX-interacting protein 1 in blood serum" "thyroglobulin measurement" "chromosome 16p12.2-p11.2 deletion syndrome" @@ -44154,8 +44158,8 @@ "Renal cortical cysts" "polar solvent" "Hypocalcemic vitamin D-resistant rickets" - "remnant cholesterol measurement" "guanine nucleotide exchange factor VAV3 measurement" + "remnant cholesterol measurement" "Chara corallina" "charcot-marie-tooth disease, axonal, type 2t" "ring chromosome 19" @@ -44267,12 +44271,12 @@ "acute adrenal insufficiency" "beta-defensin 106" "ZR75B" - "E3 ubiquitin-protein ligase RNF8 measurement" "congenital short bowel syndrome" "megaloblastic anemia, folate-responsive" "X-linked hypohidrotic ectodermal dysplasia" "SNU398" "spinocerebellar ataxia 49" + "E3 ubiquitin-protein ligase RNF8 measurement" "exploratory behavior" "pancreatic agenesis 1" "alpha-ethyl-alphabeta-diphenyl-2-pyridineethanol measurement" @@ -44320,8 +44324,8 @@ "obsolete brain calcification, Rajab type" "Ophthalmoplegia - intellectual disability - lingua scrotalis" "N-myc-interactor" - "protocadherin alpha-4" "GM15221" + "protocadherin alpha-4" "BRCA2 mutation carier statu" "PP interval" "Genetic pancreatic disease" @@ -44392,14 +44396,14 @@ "level of DNA fragmentation factor subunit alpha in blood serum" "Bayreuth ecotype" "level of integrin alpha-L in blood serum" + "obsolete_isolated focal cortical dysplasia type IIa" "level of 39S ribosomal protein L28, mitochondrial in blood serum" "carbohydrate sulfotransferase 6 measurement" - "obsolete_isolated focal cortical dysplasia type IIa" + "Hydrocephalus - costovertebral dysplasia - Sprengel anomaly" "estradiol 17-beta-dehydrogenase 2 measurement" "Bordetella pertussis" "rhombomere 5 floor plate" "Gaucher disease type III" - "Hydrocephalus - costovertebral dysplasia - Sprengel anomaly" "complement component 1 q subcomponent-binding protein, mitochondrial measurement" "level of dedicator of cytokinesis protein 2 in blood serum" "serine dehydratase-like" @@ -44500,10 +44504,10 @@ "rectal adenocarcinoma" "Numb-like protein" "integrin alpha-M" - "ankle injury" "prenatal-onset spinal muscular atrophy with congenital bone fractures" "obsolete_RCH-ACV" "level of bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 in blood serum" + "ankle injury" "Ocular Sebaceous Carcinoma" "galactonate measurement" "eukaryotic-type small ribosomal subunit protein uS7" @@ -44573,8 +44577,8 @@ "obsolete generalized pustular psoriasis" "insect clypeo-labral primordium" "corticotropin secretion" - "N-acetyl-d-tryptophan measurement"@en "ATP synthase subunit O, mitochondrial" + "N-acetyl-d-tryptophan measurement"@en "entorhinal cortex volume measurement"@en "Mycobacterium tuberculosis" "zygodactyly type 2" @@ -44738,10 +44742,10 @@ "escherichia phage virus seropositivity" "obsolete_90-8TL" "monokine induced by gamma interferon measurement" - "obsolete_patellar dysostosis" "Colorado tick fever" "level of coiled-coil domain-containing protein 126 in blood serum" "household air pollution measurement" + "obsolete_patellar dysostosis" "CD4-intermediate, CD8-positive double-positive thymocyte" "obsolete_limb bone" "cartilage-hair hypoplasia" @@ -44759,8 +44763,8 @@ "obsolete_caecum" "obsolete_ex vivo design" "Appendix Neuroendocrine Tumor G1" - "ovarian follicle stage I" "Hyaluronidase deficiency" + "ovarian follicle stage I" "obsolete_alpha-mannosidosis, infantile form" "fallopian tube cystadenofibroma" "KIF5" @@ -44932,9 +44936,9 @@ "enucleated reticulocyte" "calcium atom" "L-Glutamine to 3-Indolepropionic acid ratio" - "mono [ADP-ribose] polymerase PARP16 measurement" "Mycobacterium bovis" "1,4-dichlorobenzene" + "mono [ADP-ribose] polymerase PARP16 measurement" "secretogranin-3 measurement" "LP.08 eight leaves visible stage" "level of annexin A7 in blood serum" @@ -45000,10 +45004,10 @@ "obsolete_Malpighian tubule" "dystonia 9" "obsolete_myoclonus-dystonia syndrome" + "palmitoylcholine measurement" "hyRAD" "nephrolithiasis susceptibility caused by SLC26A1" "Osmerus mordax" - "palmitoylcholine measurement" "Kit-negative, Ly-76 high basophilic erythroblast" "AA87" "obsolete CLCN4-related X-linked intellectual disability syndrome" @@ -45038,8 +45042,8 @@ "radiation-induced plexopathy" "PAL-seq" "BAG family molecular chaperone regulator 4" - "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement" "O-methylcatechol sulfate measurement" + "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement" "level of complement C1r subcomponent-like protein in blood serum" "selenium atom" "level of PH and SEC7 domain-containing protein 1 in blood serum" @@ -45071,18 +45075,18 @@ "Sarcosine measurement" "congenital enterovirus infection" "methemoglobinemia" - "obsolete_citrullinemia type I" "HCASMC-hTERT"@en "COLO668" "atypical juvenile parkinsonism" - "1-(1-enyl-stearoyl)-GPC (P-18:0) measurement" "luminal B breast carcinoma" - "2-Hydroxyisocaproic acid measurement" + "obsolete_citrullinemia type I" "high content analysis of cells by molecular content" "vestibulocochlear ganglion" + "1-(1-enyl-stearoyl)-GPC (P-18:0) measurement" + "2-Hydroxyisocaproic acid measurement" "PA-TU-8902" - "ovarian Wilms tumor" "acrorenal syndrome" + "ovarian Wilms tumor" "Iran" "chromosome Xq28 duplication syndrome" "dyslexia-associated protein KIAA0319-like protein" @@ -45136,8 +45140,8 @@ "iCLIP" "KH domain-containing, RNA-binding, signal transduction-associated protein 2" "sessile serrated polyposis cancer syndrome" - "breasts and/or nipples, aplasia or hypoplasia of, 2" "familial hypocalciuric hypercalcemia 2" + "breasts and/or nipples, aplasia or hypoplasia of, 2" "atypical kinase COQ8B, mitochondrial" "level of histone deacetylase 6 in blood serum" "CS57583" @@ -45212,8 +45216,8 @@ "interleukin-27 receptor subunit alpha measurement" "Axial hypotonia" "level of nuclear receptor ROR-beta in blood serum" - "level of succinate-semialdehyde dehydrogenase, mitochondrial in blood serum" "dysmenorrheic pain measurement" + "level of succinate-semialdehyde dehydrogenase, mitochondrial in blood serum" "obsolete_cerebral cortex" "methoprene" "chymase measurement" @@ -45251,8 +45255,8 @@ "arabitol measurement" "N-lysine methyltransferase SMYD2" "organization role" - "meteorin-like protein" "protein RIC-3" + "meteorin-like protein" "DNA polymerase epsilon subunit 3" "Abnormal sternum morphology" "adrenal gland hyperfunction" @@ -45305,11 +45309,11 @@ "disturbances of sensation of smell and taste" "level of GRAM domain-containing protein 2B in blood serum" "capillary leak syndrome" - "eicosapentaenoylcholine measurement" "Abnormality of the pancreatic islet cells" "blind loop syndrome" - "mucosa-associated lymphoid tissue" + "eicosapentaenoylcholine measurement" "level of methionine aminopeptidase 1D, mitochondrial in blood serum" + "mucosa-associated lymphoid tissue" "level of nucleoplasmin-2 in blood serum" "atypical hemolytic-uremic syndrome with DGKE deficiency" "mating type F minus" @@ -45504,12 +45508,12 @@ "neuroblast (sensu Vertebrata)" "level of histone H2A type 1-A in blood serum" "neurotic excoriation" - "bone morphogenetic protein receptor type-2 measurement" "acral lentiginous melanoma" "deubiquitinase MYSM1" - "intracranial volume measurement" + "bone morphogenetic protein receptor type-2 measurement" "neurodevelopmental disorder with severe motor impairment and absent language" "level of integrin-linked kinase-associated serine/threonine phosphatase 2C in blood serum" + "intracranial volume measurement" "X-linked intellectual disability, Schutz type" "small integral membrane protein 3" "ECV304 cell" @@ -45572,8 +45576,8 @@ "Otomandibular dysplasia associated with monogenic syndromes" "obsolete_Aarskog-Scott syndrome" "pancreatic lymphoma, familial" - "CUB and Sushi domain-containing protein 1 measurement" "non-high density lipoprotein cholesterol measurement" + "CUB and Sushi domain-containing protein 1 measurement" "autosomal recessive spastic paraplegia type 67" "secretory phospholipase A2 receptor measurement" "5-hydroxymethyl-dUMP N-hydrolase" @@ -45602,15 +45606,15 @@ "congenital macroglossia" "U3 small nucleolar RNA-associated protein 6" "activated RNA polymerase II transcriptional coactivator p15" + "obsolete_benign childhood occipital epilepsy, Gastaut type" "S-7-hydroxywarfarin measurement" "central hypoventilation syndrome, congenital" "huntingtin-interacting protein 1-related protein" "obsolete_14q12 microdeletion syndrome" "E3 ubiquitin-protein ligase RNF13" - "obsolete_benign childhood occipital epilepsy, Gastaut type" "Shoulder and girdle defects - familial intellectual disability" - "obsolete_sex" "BEN domain-containing protein 6" + "obsolete_sex" "obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature" "partial motor epilepsy" "Duane retraction syndrome 3 with or without deafness" @@ -45659,8 +45663,8 @@ "obsolete_congenital primary megaureter, obstructed form" "level of dual specificity tyrosine-phosphorylation-regulated kinase 2 in blood serum" "iatrogenic disease" - "Floor of Mouth Mucoepidermoid Carcinoma" "obsolete_interventricular septum" + "Floor of Mouth Mucoepidermoid Carcinoma" "uterine ligament clear cell adenocarcinoma" "peroxisome biogenesis disorder due to PEX5 defect" "all-trans-retinol dehydrogenase [NAD(+)] ADH4" @@ -45767,11 +45771,11 @@ "Picea abies" "carnosine N-methyltransferase" "Female infertility due to an implantation defect of genetic origin" - "viral myocarditis" "MRNA-capping enzyme measurement" + "viral myocarditis" "level of zinc finger SWIM domain-containing protein 7 in blood serum" - "WE-68" "beta-defensin 108B" + "WE-68" "icSHAPE" "glycosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement" "epidermodysplasia verruciformis, X-linked" @@ -45793,9 +45797,9 @@ "arginase-2, mitochondrial" "faucial diphtheria" "level of serpin B5 in blood serum" - "obsolete_familial hyperinsulinism" "phosphatidylcholine 32:3" "protein FAM209B measurement" + "obsolete_familial hyperinsulinism" "glycerol measurement" "osteogenesis imperfecta, recessive"@en "level of granzyme K in blood serum" @@ -45862,8 +45866,8 @@ "xeroderma pigmentosum group G" "level of gamma-secretase subunit PEN-2 in blood serum" "eukaryotic translation initiation factor 4 gamma 3 measurement" - "syndromic lymphedema" "Hi-0" + "syndromic lymphedema" "SAFB-like transcription modulator" "Ring chromosome" "impaired psychomotor skills"@en @@ -45948,8 +45952,8 @@ "retinal cell cancer" "hypothyroidism, congenital, nongoitrous, 5" "zinc/RING finger protein 4 measurement" - "Congenital muscular dystrophy type 1A" "N-acetylgalactosamine measurement" + "Congenital muscular dystrophy type 1A" "Visual agnosia" "synembryn-A" "familial porencephaly" @@ -46022,9 +46026,9 @@ "Aba-seq" "neuroligin-4, x-linked measurement" "immunodeficiency 36" + "Metaphyseal chondrodysplasia, Schmid type" "Cannabis use initiation" "Abnormal anterior eye segment morphology" - "Metaphyseal chondrodysplasia, Schmid type" "N-alpha-acetyltransferase 20" "ubiquitin-conjugating enzyme E2 S" "obsolete_recurrent Neisseria infections due to factor D deficiency" @@ -46157,8 +46161,8 @@ "obsolete_chronic diarrhea with villous atrophy" "precocious puberty" "Low back pain" - "level of protein SCO2, mitochondrial in blood serum" "Cyanothece sp. ATCC 51142" + "level of protein SCO2, mitochondrial in blood serum" "obsolete_FASTKD2-related infantile mitochondrial encephalomyopathy" "death from disease" "level of keratin, type II cytoskeletal 1 in blood serum" @@ -46177,8 +46181,8 @@ "interleukin 1 receptor-like 1 measurement" "6-phosphogluconate dehydrogenase, decarboxylating measurement" "Neuropathic spinal arthropathy" - "protein NATD1" "Micropenis" + "protein NATD1" "level of Wee1-like protein kinase 2 in blood serum" "BK-virus nephropathy" "cranial nerve" @@ -46217,20 +46221,20 @@ "obsolete_alpha-N-acetylgalactosaminidase deficiency type 1" "amyotrophic lateral sclerosis type 8" "phosphate measurement"@en + "klebsiella phage virus seropositivity" "isthmin-1 measurement" "primary bone dysplasia with multiple joint dislocations" "chondrocalcinosis" "cullin-associated NEDD8-dissociated protein 1" - "klebsiella phage virus seropositivity" "human herpesvirus 8 seropositivity" "ACH-3P" "syntaxin-6" "obsolete_non-syndromic limb reduction defect" - "procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 measurement" "composite lymphoma" "Nephropathy" "level of endogenous retrovirus group V member 1 Env polyprotein in blood serum" "acquired aplastic anemia" + "procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 measurement" "probable RNA-binding protein 19" "obsolete_pelvic girdle" "GM15324" @@ -46248,10 +46252,10 @@ "ceramide" "hyalurononglucosaminidase activity" "response to cyclosporine" - "obsolete_Aase-Smith syndrome" - "dysuria" "parathion measurement"@en + "dysuria" "pulse wave reflection index measurement" + "obsolete_Aase-Smith syndrome" "level of Triacylglycerol (49:2) in blood serum" "urinary schistosomiasis" "level of uncharacterized protein C1orf198 in blood serum" @@ -46329,8 +46333,8 @@ "liver extraskeletal osteosarcoma" "protein flightless-1" "blepharophimosis - intellectual disability syndrome, SBBYS type" - "COMM domain-containing protein 9" "X-24334 measurement" + "COMM domain-containing protein 9" "obsolete_preopercle" "cerebral cavernous malformation 1" "(S)-3-hydroxybutyrylcarnitine measurement" @@ -46473,8 +46477,8 @@ "cauda equina neoplasm" "small intestine lymphoma" "hyperlipoproteinemia type 3" - "WM793" "iDES" + "WM793" "level of Fc receptor-like protein 2 in blood serum" "oleoylcholine measurement" "short transmembrane mitochondrial protein 1 (human)" @@ -46526,8 +46530,8 @@ "obsolete_adult muscle precursor primordium" "methanol" "CD71-low, GlyA-positive polychromatic erythroblast" - "ATC Classification System" "platelet-type bleeding disorder 19" + "ATC Classification System" "central nervous system melanocytic neoplasm" "Methanococcoides burtonii" "obsolete_endosperm" @@ -46558,10 +46562,10 @@ "non-functioning endocrine neoplasm" "granulins measurement" "narcolepsy without cataplexy" - "viral labyrinthitis" "glucuronate" - "beta-defensin 110" + "viral labyrinthitis" "MAX gene-associated protein measurement" + "beta-defensin 110" "dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome" "obsolete_disorder of pterin metabolism" "kelvin" @@ -46608,8 +46612,8 @@ "preaxial polydactyly-colobomata-intellectual disability syndrome" "HSD10 disease, neonatal type" "tauroursodeoxycholate measurement" - "2-Picolinic acid measurement" "level of protein FAM204A in blood serum" + "2-Picolinic acid measurement" "level of Diacylglycerol (18:1_18:2) in blood serum" "Tatton-Brown-Rahman overgrowth syndrome" "isovalerate" @@ -46625,8 +46629,8 @@ "Clostridium perfringens" "frizzled-5" "proliferation-associated protein 2g4 measurement" - "inherited aplastic anemia" "3-Indolepropionic acid to L-Carnitine ratio" + "inherited aplastic anemia" "probable RNA-binding protein 18" "Tics" "vascular smooth muscle cell" @@ -46655,11 +46659,11 @@ "Anti-hepatitis B virus surface antigen IgG measurement" "EnIGMA" "HG03175" - "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 measurement" - "revision of total hip arthroplasty"@en "High pulse pressure" + "revision of total hip arthroplasty"@en "immune organ" "inflammatory disease, non-human animal" + "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 measurement" "obsolete_PMM2-CDG" "adenosine diphosphate measurement"@en "ring stage trophozoite" @@ -46681,8 +46685,8 @@ "vitamin A measurement" "level of cytochrome b-c1 complex subunit 7 in blood serum" "obsolete_partial duplication of the short arm of chromosome X" - "fenasulam measurement" "extraosseous osteosarcoma" + "fenasulam measurement" "disease staging" "double negative thymocyte" "HL-60/S4"@en @@ -46766,8 +46770,8 @@ "Tetrahymena thermophila" "5-oxoprolinase deficiency" "X-24747 measurement" - "tyrosine-protein kinase FYN measurement" "interleukin 1 Receptor accessory protein measurement" + "tyrosine-protein kinase FYN measurement" "Pierre Robin syndrome associated with branchial archs anomalies" "Congenital lactic acidosis" "level of hyaluronidase-1 in blood serum" @@ -46780,12 +46784,12 @@ "small intestine cancer" "Partial trisomy of the short arm of chromosome 9" "inherited deficiency anemia" - "Ileal Neuroendocrine Tumor G1" "LP.17 seventeen leaves visible stage" - "NOR"@en + "Ileal Neuroendocrine Tumor G1" "X-linked intellectual disability, van Esch type" "CD69-positive, CD4-positive single-positive thymocyte" "Pantoea agglomerans" + "NOR"@en "tempol" "septin-10 measurement" "taurodontia-absent teeth-sparse hair syndrome" @@ -46813,10 +46817,10 @@ "mitochondrial fission regulator 1 measurement" "obsolete_temtamy preaxial brachydactyly syndrome" "obsolete_familial hyperthyroidism due to mutations in TSH receptor" + "vaginal leiomyoma" "cold shock domain-containing protein E1" "Adenoiditis" "level of bridging integrator 3 in blood serum" - "vaginal leiomyoma" "T wave duration"@en "Abnormal upper motor neuron morphology" "Hypergonadotropic hypogonadism" @@ -46928,8 +46932,8 @@ "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" "retinal ischemia" "periostin measurement" - "proline measurement" "trophoblast" + "proline measurement" "pituitary apoplexy" "spinal muscular atrophy, type 1" "chordin-like protein 2 measurement" @@ -47051,8 +47055,8 @@ "autosomal recessive nonsyndromic hearing loss 9" "Proximal spinal muscular atrophy type 4" "obsolete_leukocyte adhesion deficiency" - "obsolete_hereditary chronic pancreatitis" "tumour of cranial and spinal nerves" + "obsolete_hereditary chronic pancreatitis" "TpTe measurement" "muscular dystrophy, congenital, with or without seizures" "nuclear RNA export factor 1 measurement" @@ -47071,8 +47075,8 @@ "distal hereditary motor neuropathy type 7" "C-C motif chemokine 4-like measurement" "helping behaviour" - "radio-ulnar synostosis, bilateral" "phenylalanine" + "radio-ulnar synostosis, bilateral" "congenitally corrected transposition of the great arteries" "familial thrombocytosis" "paralemmin" @@ -47130,8 +47134,8 @@ "level of lysozyme-like protein 2 in blood serum" "enamel caries" "2-isopropylmalate" - "obsolete_Buschke-Ollendorff syndrome" "versican core protein" + "obsolete_Buschke-Ollendorff syndrome" "level of protein ripply1 in blood serum" "Kit-positive, CD34-positive common myeloid progenitor" "level of ZW10 interactor in blood serum" @@ -47191,13 +47195,13 @@ "level of Fc receptor-like protein 6 in blood serum" "mullerian duct anomalies-limb anomalies syndrome" "level of gamma-soluble NSF attachment protein in blood serum" - "obsolete_omphalocele syndrome, Shprintzen-Goldberg type" "Drosophila simulans HW09" "orbital myositis" "conductive deafness-ptosis-skeletal anomalies syndrome" "homocarnosinosis" - "Listeria meningitis" + "obsolete_omphalocele syndrome, Shprintzen-Goldberg type" "FOCUS"@en + "Listeria meningitis" "SH-SY5Y" "melanoma cell line" "level of transmembrane protease serine 11B in blood serum" @@ -47208,10 +47212,10 @@ "GM17160" "obsolete_distal portion of right coronary artery" "aggressive periodontitis" - "Sec1 family domain-containing protein 1" "atrioventricular defect-blepharophimosis-radial and anal defect syndrome" - "phosphatidylcholine O-38:4" + "Sec1 family domain-containing protein 1" "Abnormal soft palate morphology" + "phosphatidylcholine O-38:4" "CS57671" "Abnormal circulating aromatic amino acid concentration" "combined oxidative phosphorylation deficiency 47" @@ -47278,8 +47282,8 @@ "sulfate of piperine metabolite C16H19NO3 (2) measurement" "AP-1 complex subunit gamma-like 2" "ursocholate measurement" - "arthritis" "myopathy, tubular aggregate, 2" + "arthritis" "obsolete_nuclear oculomotor paralysis" "obsolete_dentinogenesis imperfecta type 3" "mediator of RNA polymerase II transcription subunit 4 measurement" @@ -47315,8 +47319,8 @@ "level of PR domain zinc finger protein 1 in blood serum" "inflammation (MPATH)" "pineal region teratoma" - "obsolete_infantile Krabbe disease" "EPIG-Seq" + "obsolete_infantile Krabbe disease" "level of Diacylglycerol (18:1_18:3) in blood serum" "MAP/microtubule affinity-regulating kinase 3" "obsolete_MPI-CDG" @@ -47398,8 +47402,8 @@ "hereditary inclusion body myopathy type 4" "level of procollagen galactosyltransferase 1 in blood serum" "obsolete_48,XXYY syndrome" - "Low birth weight - dwarfism - dysgammaglobulinemia" "well-differentiated liposarcoma" + "Low birth weight - dwarfism - dysgammaglobulinemia" "obsolete_neurocranial trabecula" "branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome" "osteoma" @@ -47448,8 +47452,8 @@ "protocadherin gamma-C3" "aniridia - intellectual disability syndrome" "obsolete_response to dabigatran etexilate" - "Genetic immune deficiency with skin involvement" "regulator of G-protein signaling 8" + "Genetic immune deficiency with skin involvement" "qualitative or quantitative defects of dysferlin" "obsolete_FLOTCH syndrome" "vasculogenic impotence" @@ -47511,8 +47515,8 @@ "obsolete_familial nonmedullary thyroid carcinoma" "tyrosine-protein kinase HCK measurement" "GM17825" - "thanatophoric dysplasia" "peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity" + "thanatophoric dysplasia" "adenosine measurement"@en "urocortin I" "Detroit562" @@ -47587,8 +47591,8 @@ "RRMAB-seq" "response to ropeginterferon alfa-2b" "NCI-H1793" - "obsolete_primary lymphedema" "GM07029" + "obsolete_primary lymphedema" "ostertagiasis" "myocardial disorder" "hereditary breast ovarian cancer syndrome" @@ -47599,8 +47603,8 @@ "bupropion" "Cerebral atrophy" "Spinocerebellar ataxia type 43" - "Non-polyposis Turcot syndrome" "obsolete_embryonic central brain glia" + "Non-polyposis Turcot syndrome" "1-ribosyl-imidazoleacetate measurement" "thoracic aorta" "obsolete_facial ganglion" @@ -47637,11 +47641,11 @@ "insecticide" "Kaposi sarcoma, susceptibility to" "Uridine Diphosphate Galactose" - "TPM3-related myopathy" "CFW"@en + "TPM3-related myopathy" "cartilage" - "Sus scrofa" "CD24-positive, CD8 single-positive thymocyte" + "Sus scrofa" "porokeratosis 1, Mibelli type" "Rhodopseudomonas palustris CGA009" "mitochondrial complex 2 deficiency, nuclear type 2" @@ -47658,8 +47662,8 @@ "level of dihydropyrimidinase-related protein 1 in blood serum" "obsolete_tetrasomy 21" "cytidine diphosphocholine measurement" - "GM17175" "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies" + "GM17175" "obsolete_sea-blue histiocyte syndrome" "serine/threonine-protein kinase DCLK3" "obsolete_Wiskott-Aldrich syndrome" @@ -47728,8 +47732,8 @@ "Abnormal dental enamel morphology" "Congenital muscular dystrophy - infantile cataract - hypogonadism" "Lewy body dementia" - "X-12063 measurement" "alkaline phosphatase, germ cell type" + "X-12063 measurement" "BC-3" "autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation" "NCI-H2279" @@ -47796,8 +47800,8 @@ "Madelung deformity, unilateral" "central hypoventilation syndrome, congenital, 2, and autonomic dysfunction" "cancer-associated retinopathy" - "Developmental malformations - deafness - dystonia" "skeletal dysplasia and progressive central nervous system degeneration, lethal" + "Developmental malformations - deafness - dystonia" "liver sarcoma" "keratin, type I cytoskeletal 17 measurement" "N-icosanoylsphingosine-1-phosphocholine" @@ -47947,8 +47951,8 @@ "level of heparan sulfate glucosamine 3-O-sulfotransferase 3B1 in blood serum" "level of pregnancy-specific beta-1-glycoprotein 2 in blood serum" "droplet-based single-cell RNA library preparation" - "connective tissue-activating peptide III measurement" "Antwerpen ecotype" + "connective tissue-activating peptide III measurement" "obsolete syndromic optic nerve hypoplasia" "urine collection" "obsolete_endometrium" @@ -47971,8 +47975,8 @@ "Pleuropulmonary blastoma" "level of zinc phosphodiesterase ELAC protein 1 in blood serum" "neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures" - "keratin, type I cytoskeletal 20" "generational effect measurement" + "keratin, type I cytoskeletal 20" "GM1 gangliosidosis" "polyneuropathy-intellectual disability-acromicria-premature menopause syndrome" "malignant perineurioma" @@ -48100,17 +48104,17 @@ "obsolete_multiple epiphyseal dysplasia and pseudoachondroplasia" "coronary aneurysm" "host extracellular space" - "obsolete_bile acid CoA ligase deficiency and defective amidation" "obsolete_congenital muscular dystrophy with hyperlaxity" + "obsolete_bile acid CoA ligase deficiency and defective amidation" "epibranchial 5" "DNA repair protein XRCC1 measurement" - "Tn5 B1-4" - "level of EMI domain-containing protein 1 in blood serum" "subcutaneous adipose tissue" + "level of EMI domain-containing protein 1 in blood serum" + "Tn5 B1-4" "obsolete_joint formation defects" "obsolete_pentasomy X" - "obsolete_terminal nerve" "myopathy caused by variation in FKRP" + "obsolete_terminal nerve" "fibroma" "obsolete_congenital factor XII deficiency" "obsolete_prostate specific antigen measurement" @@ -48128,8 +48132,8 @@ "melanocyte protein PMEL measurement" "Euphoria" "candela" - "NF-kappa-B inhibitor delta" "Congenital aphakia" + "NF-kappa-B inhibitor delta" "lysophosphatidylcholine 14:0" "omphalocele syndrome, Shprintzen-Goldberg type" "retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome" @@ -48197,8 +48201,8 @@ "histone deacetylase complex subunit SAP30L" "T1 B cell" "obsolete_distal monosomy 9p" - "thiamin pyrophosphokinase 1" "X-24699 measurement" + "thiamin pyrophosphokinase 1" "Hantaan virus" "IgG4-related dacryoadenitis and sialadenitis" "GM17826" @@ -48252,8 +48256,8 @@ "3-Hydroxy-3-methyl butyric acid measurement" "Ollier disease" "Acute Leukemia" - "leukemoid reaction" "92-1"@en + "leukemoid reaction" "Alexander disease type II" "otitis media with effusion" "neuronopathy, distal hereditary motor, autosomal recessive 5" @@ -48272,9 +48276,9 @@ "cellular metabolic process" "abdominal aorta" "mevalonate" - "4,8,12,15,19-docosapentaenoic acid measurement" "neurodegeneration with brain iron accumulation 2A" "word reading" + "4,8,12,15,19-docosapentaenoic acid measurement" "uterine sarcoma" "MitoRCA-seq" "level of RNA binding protein fox-1 homolog 1 in blood serum" @@ -48314,11 +48318,11 @@ "progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" "level of protein ADM2 in blood serum" "Leymus triticoides" - "obsolete_coloboma of macula" "Mild short stature" + "obsolete_coloboma of macula" "obsolete_neurenteric cyst" - "deoxyadenosine monophosphate measurement" "has an isolated presentation" + "deoxyadenosine monophosphate measurement" "TEMPS-A questionnaire" "telecanthus-hypertelorism-strabismus-pes cavus syndrome" "threonate measurement" @@ -48377,8 +48381,8 @@ "sn-Hi-C" "salivary gland adenoid cystic carcinoma" "Rare bone disease related to a common gene or pathway defect" - "X-11315-to-pyroglutamine ratio" "dickkopf-like protein 1 measurement" + "X-11315-to-pyroglutamine ratio" "cadaver dissection" "Thalassiosira pseudonana CCMP1335" "Respiratory failure requiring assisted ventilation" @@ -48545,8 +48549,8 @@ "cell death regulator Aven" "CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell" "obsolete_MGAT2-CDG" - "obsolete_embryonic inner optic lobe primordium" "ephrin-B1 measurement" + "obsolete_embryonic inner optic lobe primordium" "Epstein Barr viral capsid antigen IgG measurement" "autosomal recessive limb-girdle muscular dystrophy type 2J" "pancreatic cancer, susceptibility to, 4" @@ -48627,8 +48631,8 @@ "dehydrogenase/reductase SDR family member 9" "vesicle-associated membrane protein-associated protein B/C" "Episodic ataxia with slurred speech" - "obsolete_trisomy 12p" "response to dietary selenium supplementation" + "obsolete_trisomy 12p" "Papillon-Lefèvre syndrome" "paracentesis" "autism-facial port-wine stain syndrome" @@ -48667,8 +48671,8 @@ "intrahepatic bile duct" "free cholesterol to total lipids in IDL percentage " "10x 3' v3" - "C. elegans embryo stage" "level of origin recognition complex subunit 6 in blood serum" + "C. elegans embryo stage" "serum ST2 amount" "Sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0) measurement" "uracil-DNA glycosylase" @@ -48717,8 +48721,8 @@ "obsolete myoclonic epilepsy of infancy" "droplet-based cell isolation" "Tribolium castaneum" - "Rothmund-Thomson syndrome type 1" "3-Indolepropionic acid to Dodecanedioic aicd ratio" + "Rothmund-Thomson syndrome type 1" "Haplochromis burtoni" "double negative memory B cell" "atrial standstill" @@ -48750,9 +48754,9 @@ "ML2" "GM15242" "lymphokine-activated killer T-cell-originated protein kinase" - "response to immune checkpoint inhibitor" "level of Fc receptor-like B in blood serum" "XFE progeroid syndrome" + "response to immune checkpoint inhibitor" "explosive" "classic dopamine transporter deficiency syndrome" "hypoparathyroidism-deafness-renal disease syndrome" @@ -48763,9 +48767,9 @@ "level of transmembrane protease serine 5 in blood serum" "level of gamma-glutamyltranspeptidase 2 in blood serum" "obsolete_upper thoracic spina bifida cystica" - "obsolete_autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" "Malignant Pancreatic Neoplasm" "dorsal apodeme specific anlage" + "obsolete_autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" "zinc fingers and homeoboxes protein 1" "phosphatidylinositide phosphatase SAC2" "progenitor cell of endocrine pancreas" @@ -48867,15 +48871,15 @@ "triatrial heart" "tyrosine-protein kinase LCK measurement" "GM17833" - "plasma betaine measurement" "obsolete_autosomal dominant macrothrombocytopenia" + "plasma betaine measurement" "protein MEMO1" "level of CD7 molecule in blood serum" "alpha,alpha-trehalase activity" "eWGA" "microtubule cytoskeleton organization" - "cardiac ventricle disorder" "perineal laceration during delivery" + "cardiac ventricle disorder" "level of Sphingomyelin (d34:2) in blood serum" "adipic acid measurement"@en "hypertrophic cardiomyopathy 1" @@ -48917,15 +48921,15 @@ "AKT2-related familial partial lipodystrophy" "SW707"@en "Disorder of peptide metabolism" - "1-margaroyl-GPC (17:0) measurement" "GM17227" "peroxisome biogenesis disorder 10A (Zellweger)" + "1-margaroyl-GPC (17:0) measurement" "U6A" "obsolete_vagal placode 3" "imperforate anus" - "HG03342" "level of keratin-associated protein 2-4 in blood serum" "Mauriac syndrome" + "HG03342" "uncharacterized protein C17orf67 measurement" "interferon beta measurement" "Abnormality of the endocrine system" @@ -48944,9 +48948,9 @@ "obsolete_isolated ectopia lentis" "macrophage colony-stimulating factor 1 measurement" "obsolete_coronary stenosis" - "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" "platelet aggregation" "host intracellular region" + "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" "hypoinsulinemic hypoglycemia and body hemihypertrophy" "nasal cavity and paranasal sinus carcinoma" "malignant choroid melanoma" @@ -48964,8 +48968,8 @@ "pancreatic endocrine carcinoma" "Cerebral white matter hypoplasia" "Blepharophimosis-intellectual disability syndrome" - "ras-related C3 botulinum toxin substrate 3 measurement" "neurodegeneration, infantile-onset, biotin-responsive" + "ras-related C3 botulinum toxin substrate 3 measurement" "associative visual agnosia" "cutaneous mucoepidermoid carcinoma" "obsolete_chordoma" @@ -48996,8 +49000,8 @@ "Rhodobacter sphaeroides 2.4.1" "obsolete_ArrayExpress experiment type" "chronic atrial and intestinal dysrhythmia" - "7-chlorokynurenic acid" "traditional Chinese medicine type" + "7-chlorokynurenic acid" "level of SLIT-ROBO Rho GTPase-activating protein 2 in blood serum" "obsolete membrane part" "level of Max-like protein X in blood serum" @@ -49080,8 +49084,8 @@ "congenital sialidosis type 2" "obsolete_disorder of phenylalanine metabolism" "single cell Hi-C" - "dipeptidyl peptidase 1 measurement" "obsolete_Charcot-Marie-Tooth disease type 4J" + "dipeptidyl peptidase 1 measurement" "femoral agenesis/hypoplasia" "soft tissue disease" "glycogen storage disease due to acid maltase deficiency, late-onset" @@ -49091,8 +49095,8 @@ "kelch-like ECH-associated protein 1 measurement" "Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism" "obsolete_Cooks syndrome" - "sphingomyelin 22:0 measurement"@en "anti-human herpes virus 6 antibody measurement"@en + "sphingomyelin 22:0 measurement"@en "omentum" "fertilized ovule stage" "Pediococcus acidilactici" @@ -49193,8 +49197,8 @@ "Fc receptor-like protein 6 measurement" "izumo sperm-egg fusion protein 4" "obsolete_somite 13" - "CS57874" "Muscular hypertrophy - hepatomegaly - polyhydramnios" + "CS57874" "apelin" "ChEC-seq" "CCD-33Lu" @@ -49248,9 +49252,9 @@ "obsolete_humero-radial synostosis, unilateral" "HuTu-80" "congenital muscular dystrophy 1B" + "Pancreatic Large Cell Neuroendocrine Carcinoma" "Ly6/PLAUR domain-containing protein 3 measurement" "transposition of the great arteries, dextro-looped" - "Pancreatic Large Cell Neuroendocrine Carcinoma" "2-arachidonoylglycerol (20:4) measurement" "cytohesin-4" "brain disease" @@ -49265,10 +49269,10 @@ "Muscular dystrophy - white matter spongiosis" "pediatric hepatocellular carcinoma" "cranial nerve neoplasm" - "X-12093 measurement" - "nemaline myopathy 7" "iPS-17b" + "nemaline myopathy 7" "level of mitochondrial import inner membrane translocase subunit Tim21 in blood serum" + "X-12093 measurement" "aplasia cutis congenita" "embryonic cell (metazoa)" "trafficking protein particle complex subunit 6B" @@ -49362,11 +49366,11 @@ "free cholesterol to total lipids in large HDL percentage " "level of oxysterol-binding protein 1 in blood serum" "obsolete_medullary sponge kidney" - "dihomo-linoleate 20:2n6 measurement" "level of killer cell lectin-like receptor subfamily B member 1 in blood serum" - "iPS DF 19.11" + "dihomo-linoleate 20:2n6 measurement" "HT-29" "West Nile virus" + "iPS DF 19.11" "obsolete_Hirschsprung disease" "nucleus accumbens" "embryonal carcinoma" @@ -49385,8 +49389,8 @@ "level of mediator of RNA polymerase II transcription subunit 20 in blood serum" "auriculocondylar syndrome" "peroxisome biogenesis disorder due to PEX16 defect" - "Barrett adenocarcinoma" "SCLC-22H" + "Barrett adenocarcinoma" "obsolete_isolated scaphocephaly" "DNA fragmentation factor subunit alpha" "glucosamine 6-phosphate N-acetyltransferase measurement" @@ -49411,11 +49415,11 @@ "methylcobalamin deficiency type cblE" "UTMC-2"@en "Festuca rubra subsp. littoralis" + "Disorder of the gamma-glutamyl cycle" "obsolete_pyruvate carboxylase deficiency, infantile form" "level of transmembrane protease serine 6 in blood serum" "level of sodium/iodide cotransporter in blood serum" "lissencephaly due to TUBA1A mutation" - "Disorder of the gamma-glutamyl cycle" "level of transmembrane and coiled-coil domain-containing protein 5A in blood serum" "GM1 ganglioside measurement" "Burren ecotype" @@ -49532,8 +49536,8 @@ "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" "nuclear progesterone receptor binding" "obsolete_Hutchinson-Gilford progeria syndrome" - "X-12462 measurement" "Moniezia benedeni" + "X-12462 measurement" "obsolete_syndromic retinitis pigmentosa" "thoracic aortic aneurysm" "Craniofacial dysplasia-osteopenia syndrome" @@ -49541,8 +49545,8 @@ "Nematoda" "Leber congenital amaurosis 8" "respiratory system venous blood vessel" - "3-Indolepropionic acid to LysoPC 20:1 ratio" "Rothmund-Thomson syndrome type 2" + "3-Indolepropionic acid to LysoPC 20:1 ratio" "kallikrein-11 measurement"@en "congenital absence of both forearm and hand" "Chronic diarrhea with hereditary sensory and autonomic neuropathy" @@ -49574,8 +49578,8 @@ "obsolete_genetic factor" "Ehlers-Danlos syndrome, cardiac valvular type" "triglycerides in large HDL measurement " - "solitary median maxillary central incisor syndrome" "agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome" + "solitary median maxillary central incisor syndrome" "myoclonic dystonia 26" "pancreatic D cell" "partial deletion of the short arm of chromosome 10" @@ -49696,14 +49700,14 @@ "tyrosine-protein kinase lyn measurement" "level of malonyl-CoA decarboxylase, mitochondrial in blood serum" "level of islet amyloid polypeptide in blood serum" - "obsolete_autosomal recessive hyperinsulinism due to SUR1 deficiency" "chloride measurement" "arylsulfatase B measurement" - "obsolete_mammary-digital-nail syndrome" + "obsolete_autosomal recessive hyperinsulinism due to SUR1 deficiency" "neuroectodermal-endocrine syndrome" + "obsolete_mammary-digital-nail syndrome" "serine/threonine-protein kinase WNK1" - "vertebral disorder" "choroideremia-hypopituitarism syndrome" + "vertebral disorder" "uncharacterized protein C1orf115 measurement" "polyploidy" "obsolete_inguinal region" @@ -49712,8 +49716,8 @@ "NOR/LtJ"@en "Staphylococcus lentus" "obsolete_porencephaly-microcephaly-bilateral congenital cataract syndrome" - "nectin-3" "obsolete_short rib-polydactyly syndrome" + "nectin-3" "level of beta-1,3-galactosyltransferase 1 in blood serum" "serine/arginine-rich splicing factor 7 measurement" "Joubert syndrome with oculorenal defect" @@ -49751,9 +49755,9 @@ "pulmonary surfactant-associated protein d measurement" "454 GS 20 standard manufacturer's protocol" "anti-human herpes virus 7 antibody measurement"@en - "triacylglycerol 50:3 measurement"@en "typhasterol" "sphingomyelin 22:1 measurement"@en + "triacylglycerol 50:3 measurement"@en "GM17107" "developing seed stage" "early whole plant fruit ripening stage" @@ -49847,9 +49851,9 @@ "cyclin-dependent kinase 5:cyclin-dependent kinase 5 activator 1 complex measurement" "obsolete_lower motor neuron syndrome with late-adult onset" "GM10845" - "acidic leucine-rich nuclear phosphoprotein 32 family member b measurement" "obsolete_tracheal primordium" "autoimmune thyroid disease, susceptibility to" + "acidic leucine-rich nuclear phosphoprotein 32 family member b measurement" "3-Indolepropionic acid to Uridine ratio" "obsolete_49,XXXYY syndrome" "obsolete_orofaciodigital syndrome type 13" @@ -49913,18 +49917,18 @@ "FiT-Seq" "obsolete_adult Krabbe disease" "Clear Cell Papillary Cystadenoma" - "X-17185 measurement" "Kit-low, CD34-positive eosinophil progenitor cell" + "X-17185 measurement" "obsolete syndactyly type 2" "obsolete_X-linked cone dysfunction syndrome with myopia" "pharyngeal pouch 1" "Huntington disease-like 3" "salivary duct carcinoma" "neuronal growth regulator 1 measurement" - "obsolete_T+ B+ severe combined immunodeficiency" - "single nucleus RNA sequencing" "autosomal recessive spinocerebellar ataxia 12" + "obsolete_T+ B+ severe combined immunodeficiency" "heart valve prosthesis" + "single nucleus RNA sequencing" "Charcot-Marie-Tooth disease type 4A" "feather" "pterin-4-alpha-carbinolamine dehydratase" @@ -49944,8 +49948,8 @@ "level of ubiquitin carboxyl-terminal hydrolase 19 in blood serum" "carbohydrate transport" "T-Cell Prolymphocytic Leukemia" - "X-12094 measurement" "level of secretoglobin family 3A member 2 in blood serum" + "X-12094 measurement" "Smart-seq" "Joubert syndrome 36" "embryonic stem cell" @@ -50060,8 +50064,8 @@ "SKMC" "probable RNA-binding protein 23" "giant axonal neuropathy 2" - "fenazaquin" "cholesteryl ester 14:0 measurement"@en + "fenazaquin" "obsolete_spondyloepimetaphyseal dysplasia, Bieganski type" "level of protein kish-A in blood serum" "benign laryngeal neoplasm" @@ -50117,8 +50121,8 @@ "level of GTP cyclohydrolase 1 in blood serum" "cone dystrophy" "level of mediator of RNA polymerase II transcription subunit 28 in blood serum" - "Gaucher disease" "Epinephelus tauvina" + "Gaucher disease" "myristoleate" "mosaic trisomy 20" "Allergy" @@ -50262,11 +50266,11 @@ "obsolete_partial duplication of chromosome 3" "obsolete_pericardium" "gastric neuroendocrine tumor, well differentiated, low or intermediate grade" - "Intermediate osteopetrosis" "tyrosine-protein phosphatase non-receptor type 13" "Sotos syndrome" - "Cavernous Hemangioma" + "Intermediate osteopetrosis" "CAL851" + "Cavernous Hemangioma" "tachypnea" "mitogen-activated protein kinase kinase kinase kinase 5" "sialidosis type I" @@ -50382,8 +50386,8 @@ "obsolete_oculocerebrofacial syndrome, Kaufman type" "parkinsonism-dystonia, infantile" "Cucumis melo" - "Bladder Small Cell Neuroendocrine Carcinoma" "Deafness - epiphyseal dysplasia - short stature" + "Bladder Small Cell Neuroendocrine Carcinoma" "level of N-alpha-acetyltransferase 20 in blood serum" "isochromosome Y" "obsolete_humerus" @@ -50446,13 +50450,13 @@ "colon adenocarcinoma" "level of beta-1,3-galactosyltransferase 2 in blood serum" "Plasmopara viticola" + "Multiple sulfatase deficiency" "obsolete_autosomal dominant limb-girdle muscular dystrophy type 1G" "complement C1q-like protein 4 measurement" "granulocyte percentage of myeloid white cells" "alcohol-induced disorders" "triglycerides in large LDL measurement " "polydactyly, postaxial, type A6" - "Multiple sulfatase deficiency" "cerebral artery" "pigmented nodular adrenocortical disease, primary, 1" "benign familial mesial temporal lobe epilepsy" @@ -50479,14 +50483,14 @@ "osteogenesis imperfecta type 4" "self-healing collodion baby" "myeloperoxidase (MPO)-DNA complex measurement"@en - "Peroxisome biogenesis disorder-Zellweger syndrome spectrum" "obsolete_nucleus of terminal stria" "hereditary sensory and autonomic neuropathy type 1" - "obsolete_combined deficiency of factor V and factor VIII" + "Peroxisome biogenesis disorder-Zellweger syndrome spectrum" "iatrogenic Kaposi's sarcoma" + "obsolete_combined deficiency of factor V and factor VIII" "1-stearoyl-GPC (18:0) measurement" - "tsA-201" "secretagogin" + "tsA-201" "partial deletion of the long arm of chromosome 2" "Chest pain" "143B" @@ -50499,11 +50503,11 @@ "Abnormal renal physiology" "Abnormal male internal genitalia morphology" "obsolete_autosomal dominant optic atrophy plus syndrome" + "obsolete_maternally-inherited mitochondrial myopathy" "4C" "Physarum polycephalum" "protein FAM209B" "macrodactyly of toes" - "obsolete_maternally-inherited mitochondrial myopathy" "1-methylguanine measurement" "interleukin-1 family member 5" "ganglioglioma" @@ -50543,8 +50547,8 @@ "paragonimiasis" "GTPase IMAP family member 4" "RAC-beta serine/threonine-protein kinase measurement" - "obsolete_response to interferon beta" "afimoxifene" + "obsolete_response to interferon beta" "RAB23-related Carpenter syndrome" "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3" "X-linked erythropoietic protoporphyria" @@ -50572,9 +50576,9 @@ "3-aminobenzamide" "X-24811 measurement" "cystatin-F measurement" - "obsolete_childhood disintegrative disorder" "immunoglobulin lambda-like polypeptide 1" "nevus" + "obsolete_childhood disintegrative disorder" "UPF0235 protein C15orf40" "positive regulation of saliva secretion" "ear inflorescence" @@ -50609,9 +50613,9 @@ "Piscirickettsiaceae Infections" "Spinocerebellar ataxia - dysmorphism" "mucolipidosis type II" + "X-linked intellectual disability, Zorick type" "X-17325 measurement" "level of endoplasmic reticulum membrane sensor NFE2L1 in blood serum" - "X-linked intellectual disability, Zorick type" "lysophosphatidylcholine 18:2" "Lactobacillus parabuchneri" "megalencephaly-polydactyly syndrome" @@ -50638,9 +50642,9 @@ "obsolete sudden infant death syndrome" "ankyrin repeat and SOCS box protein 9" "short-term memory" + "susceptibility to strep throat measurement" "Mycobacterium bovis BCG str. Pasteur 1173P2" "obsolete_muscle" - "susceptibility to strep throat measurement" "level of neuritin-like protein in blood serum" "femoral neck bone geometry" "level of secreted frizzled-related protein 5 in blood serum" @@ -50702,16 +50706,16 @@ "level of bifunctional coenzyme A synthase in blood serum" "glutathione synthetase deficiency without 5-oxoprolinuria" "MSiPS" + "ecthyma" "thigh muscle fat infiltration measurement"@en "Tessier cleft" - "ecthyma" "lens disease" "Generalized hypotonia" "obsolete_cervicothoracic spina bifida aperta" "stuttering, familial persistent, 1" "bilateral renal agenesis" - "obsolete_congenital vitamin K-dependent coagulation factors deficiency" "partial duplication of chromosome 11" + "obsolete_congenital vitamin K-dependent coagulation factors deficiency" "trait in response to bupropion" "Mental deterioration" "Dent disease type 2" @@ -50760,8 +50764,8 @@ "hereditary nonpolyposis colon cancer" "transmembrane protein 237" "PAGOD syndrome" - "Pleuronichthys verticalis" "level of actin-binding LIM protein 3 in blood serum" + "Pleuronichthys verticalis" "hepatitis E virus infection" "familial benign copper deficiency" "obsolete_occult macular dystrophy" @@ -50859,8 +50863,8 @@ "causalgia" "ovary rhabdomyosarcoma" "colorectal cancer, susceptibility to, 3" - "level of myosin light chain 4 in blood serum" "Intervertebral Disc Displacement" + "level of myosin light chain 4 in blood serum" "DnaJ homolog subfamily B member 9 measurement" "type IV hypersensitivity disease" "1-stearoyl-2-linoleoyl-GPI (18:0/18:2) measurement" @@ -50921,8 +50925,8 @@ "Kin-S49" "congenital laryngeal web" "level of heparan-sulfate 6-O-sulfotransferase 3 in blood serum" - "obsolete_isolated focal cortical dysplasia type II" "obsolete cranial malformation" + "obsolete_isolated focal cortical dysplasia type II" "Lowe-Kohn-Cohen syndrome" "oculomotor nuclear complex" "splenic tingible body macrophage" @@ -50971,9 +50975,9 @@ "Esophagitis" "upper aerodigestive tract neoplasm" "digestive system neoplasm" - "Microcephaly - digital anomalies - intellectual disability" "anxiety" "Influenza A virus (A/Texas/36/1991(H1N1))" + "Microcephaly - digital anomalies - intellectual disability" "histone deacetylase 8 measurement" "diffuse palmoplantar keratoderma - acrocyanosis syndrome" "breast cancer anti-estrogen resistance protein 3 measurement" @@ -51013,8 +51017,8 @@ "obsolete_pleura" "urinary bladder urothelium" "level of IgLON family member 5 in blood serum" - "DMGV measurement" "obsolete_congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency" + "DMGV measurement" "level of tumor protein D54 in blood serum" "level of pleckstrin homology domain-containing family A member 1 in blood serum" "keratosis pilaris" @@ -51041,8 +51045,8 @@ "obsolete_12q15q21.1 microdeletion syndrome" "lymphoblast" "myomesin-3" - "AG11364" "beta-adrenergic receptor kinase 1 measurement" + "AG11364" "level of interleukin-1 receptor-like 2 in blood serum" "neuromuscular junction" "Health Assessment Questionnaire Disability Index"@en @@ -51051,8 +51055,8 @@ "level of specifically androgen-regulated gene protein in blood serum" "brain-lung-thyroid syndrome" "Geospiza difficilis" - "steroid hormone" "alopecia, isolated" + "steroid hormone" "level of 11-beta-hydroxysteroid dehydrogenase 1 in blood serum" "calcineurin B homologous protein 1 measurement" "Abnormality of the digestive system" @@ -51107,8 +51111,8 @@ "stomatal complex" "U1 small nuclear ribonucleoprotein A measurement" "CS57908" - "X-21845 measurement" "COV413A" + "X-21845 measurement" "pulmonary alveolar type 2 cell" "obsolete_acrocephalosyndactylia" "obsolete_endocardium" @@ -51137,10 +51141,10 @@ "obsolete_distal 17p13.1 microdeletion syndrome" "X-11786--methylcysteine measurement" "disseminated candidiasis" - "Safe-SeqS" "congenital anomaly of the great arteries" - "obsolete_primary neuron hindbrain" + "Safe-SeqS" "spinal muscular atrophy, type IV" + "obsolete_primary neuron hindbrain" "long QT syndrome 13" "blood N-carbamoylalanine measurement" "neuropathy, hereditary motor and sensory, type 6A" @@ -51344,8 +51348,8 @@ "cercarium" "syndromic oculocutaneous albinism" "level of proteasome subunit beta type-5 in blood serum" - "Agrobacterium larrymoorei" "distal lower limb amyotrophy" + "Agrobacterium larrymoorei" "TAR DNA-binding protein 43" "ectonucleotide pyrophosphatase/phosphodiesterase family member 2" "Parkinson disease 5, autosomal dominant, susceptibility to" @@ -51530,8 +51534,8 @@ "neoplasm of oropharynx" "CD16-positive myeloid dendritic cell" "inverted transitional cell papilloma" - "secretoglobin family 1D member 1" "level of prostasin in blood serum" + "secretoglobin family 1D member 1" "Oy-0" "bacillaceae seropositivity" "lymphocyte" @@ -51625,8 +51629,8 @@ "granulomatous dermatitis" "MC-1" "tissue factor pathway inhibitor measurement" - "chronic cholangitis" "Steel syndrome" + "chronic cholangitis" "Triticum durum" "Charcot-Marie-Tooth Disease, axonal, type 2GG" "Bruton-type agammaglobulinemia" @@ -51728,8 +51732,8 @@ "thermal burn"@en "congenital hypotrichosis with juvenile macular dystrophy" "cataract 33" - "lauroylcarnitine measurement" "McCune-Albright syndrome" + "lauroylcarnitine measurement" "level of brorin in blood serum" "deoxynucleoside triphosphate triphosphohydrolase SAMHD1" "Toxic Nodular Goiter" @@ -51752,8 +51756,8 @@ "retinal cone cell" "calcineurin B homologous protein 3 measurement" "choroid neoplasm" - "CD5 measurement" "ventricular fibrillation" + "CD5 measurement" "GM17209" "Emiliania huxleyi CCMP1516" "Abdominal pain" @@ -51779,17 +51783,17 @@ "polyglucosan body myopathy 1 with or without immunodeficiency" "level of ankyrin repeat and MYND domain-containing protein 2 in blood serum" "Enterococcus faecalis OG1RF" - "obsolete_familial isolated hyperparathyroidism" "obsolete_anotia" + "obsolete_familial isolated hyperparathyroidism" "lissencephaly 9 with complex brainstem malformation" "5-hydroxytryptamine receptor 6" "obsolete_X-linked intellectual disability, Armfield type" "obsolete_genetic macular dystrophy" - "single cell library information" "Cerebrorenodigital syndrome" "dilated cardiomyopathy 1E" "ketoconazole" "alpha-actinin-4" + "single cell library information" "idiopathic CD4 lymphocytopenia" "level of procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 in blood serum" "V-set and transmembrane domain-containing protein 1" @@ -51830,14 +51834,14 @@ "X-11787 measurement" "obsolete_rhombomere 2" "blood N(1)-acetylspermidine measurement" - "Testicular Sclerosing Sertoli Cell Tumor" "lymphatic malformation 5" + "Testicular Sclerosing Sertoli Cell Tumor" "octadecanoids measurement" "Clostridium sporogenes" "congenital heart defects, multiple types, 7" "YMB-1" - "Osteoporosis" "obsolete_Catecholaminergic polymorphic ventricular tachycardia" + "Osteoporosis" "cell barcode size" "Trichomonas cystitis" "squamous cell carcinoma of floor of mouth" @@ -51848,12 +51852,12 @@ "obsolete_Progressive myoclonic epilepsy type 5" "familial hypercholesterolemia" "sensorineural hearing loss-early graying-essential tremor syndrome" - "acute myeloid leukemia, t(7;12)(q36;p13)" - "Locusta migratoria manilensis" "obsolete_beta-thalassemia and related diseases" "fibroepithelial polyp of the anus" - "level of segment polarity protein dishevelled homolog DVL-2 in blood serum" + "acute myeloid leukemia, t(7;12)(q36;p13)" + "Locusta migratoria manilensis" "P-Selectin measurement" + "level of segment polarity protein dishevelled homolog DVL-2 in blood serum" "multiple epiphyseal dysplasia, Lowry type" "X-linked ichthyosis syndrome" "limb transversal defect-cardiac anomaly syndrome" @@ -51951,8 +51955,8 @@ "obsolete_orofacial clefting syndrome" "maturity-onset diabetes of the young type 4" "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome" - "obsolete_late infantile neuronal ceroid lipofuscinosis" "glyoxylate reductase/hydroxypyruvate reductase" + "obsolete_late infantile neuronal ceroid lipofuscinosis" "SNB19" "cholestasis, progressive familial intrahepatic, 9" "KYSE-270" @@ -52012,8 +52016,8 @@ "cardiac troponin I measurement" "isolated anhidrosis with normal sweat glands" "semaphorin-6D" - "Colon Inflammatory Polyp" "PL45" + "Colon Inflammatory Polyp" "pathological complete response" "Capture-HiC" "UCSF4" @@ -52090,8 +52094,8 @@ "obsolete_Biemond syndrome type 2" "Abnormal circulating serine concentration" "Abnormal subcutaneous fat tissue distribution" - "obsolete_severe intellectual disability-progressive spastic diplegia syndrome" "inborn disorder of phenylalanine and tyrosine metabolism" + "obsolete_severe intellectual disability-progressive spastic diplegia syndrome" "AN1-type zinc finger protein 5" "partial deletion of the short arm of chromosome 19" "hypomagnesemia, seizures, and intellectual disability 2" @@ -52207,9 +52211,9 @@ "malignant pleural solitary fibrous tumor" "central neurocytoma" "Osteopetrosis" - "Calvarial doughnut lesions - bone fragility" "isolated noncompaction of the ventricular myocardium" "DnaJ homolog subfamily C member 30 measurement" + "Calvarial doughnut lesions - bone fragility" "complement factor H-related protein 5 measurement" "level of protein-tyrosine sulfotransferase 2 in blood serum" "prostate derived cell line" @@ -52282,8 +52286,8 @@ "thyroid cancer, nonmedullary, 1" "lupus erythematosus" "histone-lysine N-methyltransferase EZH2" - "obsolete_isolated brachycephaly" "Lactobacillus panis" + "obsolete_isolated brachycephaly" "Retinal hemorrhage" "obsolete_subepithelial mucinous corneal dystrophy" "African iron overload" @@ -52423,8 +52427,8 @@ "mesomelic dysplasia, Kantaputra type" "licoagrodin measurement" "level of tryptophan--tRNA ligase, cytoplasmic in blood serum" - "Visium Spatial Gene Expression" "asphyxia" + "Visium Spatial Gene Expression" "sphingomyelin 24:0" "sorting and assembly machinery component 50" "X-13435 measurement" @@ -52464,10 +52468,10 @@ "outer ear morphology trait" "visceral neuropathy, familial" "eyelid gland" - "obsolete_isolated anorectal malformation" "N18" "quinine measurement" "mitochondrial DNA deletion syndrome with progressive myopathy" + "obsolete_isolated anorectal malformation" "CS57924" "PHACE syndrome" "X-22143 measurement" @@ -52478,8 +52482,8 @@ "acne inversa, familial, 3" "oxidized low-density lipoprotein receptor 1 measurement" "Hypofibrinogenemia" - "peritoneal neoplasm" "mucopolysaccharidosis type 6" + "peritoneal neoplasm" "CREB-binding protein" "obsolete_Sanfilippo syndrome type B" "level of NIF3-like protein 1 in blood serum" @@ -52575,8 +52579,8 @@ "endometrial stromal sarcoma" "josephin-1" "Benign Smooth Muscle Neoplasm" - "Charcot-Marie-Tooth disease type 2D" "level of interleukin-23 receptor in blood serum" + "Charcot-Marie-Tooth disease type 2D" "Lactobacillus paracasei" "Duchenne and Becker muscular dystrophy" "supraglottis neoplasm" @@ -52698,8 +52702,8 @@ "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12" "129P1/ReJ" "level of PR domain zinc finger protein 4 in blood serum" - "triacylglycerol 52:2 measurement"@en "dicrocoeliasis" + "triacylglycerol 52:2 measurement"@en "diastolic blood pressure change measurement" "obsolete_optic disc" "pleckstrin homology domain-containing family A member 7" @@ -52711,19 +52715,19 @@ "obsolete_familial episodic pain syndrome with predominantly upper body involvement" "N-acetyl-L-aspartate(2-)" "amelia of upper limb, unilateral" - "Ptosis - upper ocular movement limitation - absence of lacrimal punctum" "small ubiquitin-related modifier 2" "carcinoembryonic antigen-related cell adhesion molecule 20" "Rabson-Mendenhall syndrome" "Hemoglobin SC Disease" - "obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency" + "Ptosis - upper ocular movement limitation - absence of lacrimal punctum" "Monteggia's fracture" "dynactin-associated protein measurement" - "toothache" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" "level of protocadherin gamma-A12 in blood serum" + "obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency" "acute myeloid leukemia, t(11;15)(p15;q35)" + "toothache" "hereditary spastic paraplegia 48" "protein mago nashi" "isolated aniridia" @@ -52737,8 +52741,8 @@ "CaptureSeq" "obsolete_Adams-Oliver syndrome" "cyclophosphamide" - "7-methylxanthine" "CS57646" + "7-methylxanthine" "superior parietal cortex volume measurement"@en "Oomycetes" "bilateral generalized polymicrogyria" @@ -52975,13 +52979,13 @@ "level of uncharacterized protein CXorf38 in blood serum" "spastic paraplegia 83, autosomal recessive" "UV-C light regimen" - "tomatidine" "UDP-N-acetylhexosamine pyrophosphorylase measurement" + "tomatidine" "neonatal Marfan syndrome" "t-cell surface glycoprotein CD3 gamma chain measurement" - "EFM-192A" "level of UPF0606 protein KIAA1549L (human) in blood serum" "level of osteoclast-stimulating factor 1 in blood serum" + "EFM-192A" "acquired ataxia" "X-23276 measurement" "gallbladder melanoma" @@ -53010,8 +53014,8 @@ "appendix leiomyoma" "penis carcinoma in situ" "DBTRG05MG" - "1-(1-enyl-stearoyl)-2-linoleoyl-GPE (P-18:0/18:2)* measurement"@en "glycohyocholate measurement" + "1-(1-enyl-stearoyl)-2-linoleoyl-GPE (P-18:0/18:2)* measurement"@en "growth factor receptor-bound protein 7" "obsolete_9,10-dihome measurement" "blood vanillic alcohol sulfate measurement" @@ -53037,8 +53041,8 @@ "lysosomal glycogen storage disease" "ciliary dyskinesia, primary, 43" "craniofrontonasal dysplasia-Poland anomaly syndrome" - "orbit embryonal rhabdomyosarcoma" "azurocidin measurement" + "orbit embryonal rhabdomyosarcoma" "1-docosahexaenoylglycerol (22:6) measurement" "retinol measurement" "lysophosphatidylcholine 19:0 measurement" @@ -53121,11 +53125,11 @@ "heart-hand syndrome, Slovenian type" "homostachydrine measurement" "brachydactyly of toes, unilateral" + "methionine sulfone measurement" "sorting nexin-4 measurement" "infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome" - "Charcot-Marie-Tooth disease type 2B5" - "methionine sulfone measurement" "level of peroxynitrite isomerase THAP4 in blood serum" + "Charcot-Marie-Tooth disease type 2B5" "recurrent infections associated with rare immunoglobulin isotypes deficiency" "level of caveolae-associated protein 1 in blood serum" "CUGBP Elav-like family member 2" @@ -53327,9 +53331,9 @@ "Joint contracture of the hand" "obsolete_Pierson syndrome" "DU4475" + "Autosomal recessive spastic paraplegia type 57" "obsolete_pauciarticular juvenile rheumatoid arthritis" "SNU16" - "Autosomal recessive spastic paraplegia type 57" "guanylate-binding protein 2" "Unclassified primitive or secondary maculopathy" "Abnormal meniscus morphology" @@ -53343,14 +53347,14 @@ "2,3-dihydroxy-5-methylthio-4-pentenoate (DMTPA) measurement" "obsolete syndromic ankyloblepharon" "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial measurement" + "hepatitis C virus seropositivity" "hypertrichosis of eyelid" "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial" - "hepatitis C virus seropositivity" + "triacylglycerol 52:3 measurement"@en "OCI-AML3" "level of zinc finger protein 134 in blood serum" - "triacylglycerol 52:3 measurement"@en - "Intention tremor" "persulfide dioxygenase ETHE1, mitochondrial measurement" + "Intention tremor" "Dictyocaulus infectious disease" "IL.00 inflorescence just visible stage" "129S1/SvImJ" @@ -53419,8 +53423,8 @@ "level of Phosphatidylcholine (15:0_18:2) in blood serum" "L-Aspartic acid measurement" "immunoproliferative small intestinal disease" - "apolipoprotein A 1 change measurement" "EF-hand domain-containing protein D2" + "apolipoprotein A 1 change measurement" "level of protocadherin gamma-A2 in blood serum" "C1Q deficiency" "carcinosarcoma of the corpus uteri" @@ -53469,8 +53473,8 @@ "Macaca nemestrina" "protein KTI12" "Second degree atrioventricular block" - "obsolete_Ehlers-Danlos syndrome, hypermobility type" "urinary tract obstruction" + "obsolete_Ehlers-Danlos syndrome, hypermobility type" "Hypotrichosis with juvenile macular degeneration" "scleredema adultorum" "moderately severe hemophilia B" @@ -53516,9 +53520,9 @@ "disorder of mineral absorption and transport" "LAPC-4" "programmed cell death protein 4" + "obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut-" "level of Rab GDP dissociation inhibitor alpha in blood serum" "body height" - "obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut-" "obsolete_CHIME syndrome" "insect ventral epidermis primordium" "growth delay due to insulin-like growth factor type 1 deficiency" @@ -53578,17 +53582,17 @@ "autosomal recessive proximal renal tubular acidosis" "TBC1 domain family member 24" "myxoma" - "prolyl endopeptidase" "Type 2 collagen-related bone disorder" + "prolyl endopeptidase" "sunitinib" "bilateral polymicrogyria" "Geospiza fortis" "Proximal lower limb amyotrophy" "alive in complete remission" - "obsolete_hemoglobinopathy Toms River" "CDK5 and ABL1 enzyme substrate 2" "T-helper 1 cell" "moesin measurement" + "obsolete_hemoglobinopathy Toms River" "trait in response to platinum" "Pro-Ala" "obsolete_partial monosomy of the short arm of chromosome 20" @@ -53705,8 +53709,8 @@ "SHC-transforming protein 2" "blood 3,4-dihydroxybutyrate measurement" "GM17817" - "calcitriol measurement" "pristane" + "calcitriol measurement" "3M syndrome" "obsolete_Fabry disease" "probable methyltransferase-like protein 24" @@ -53782,9 +53786,9 @@ "level of Phosphatidylcholine (18:0_22:5) in blood serum" "level of TBC1 domain family member 20 in blood serum" "ribose-5-phosphate isomerase" - "Genetic epidermal disorder" "assay"@en "assay" + "Genetic epidermal disorder" "level of agrin in blood serum" "level of sperm-associated antigen 7 in blood serum" "gremlin-2" @@ -53840,8 +53844,8 @@ "fungal/metazoan cullin-1" "zinc finger and BTB domain-containing protein 10" "Rare disease with dentinogenesis imperfecta" - "digital anomalies-intellectual disability-short stature syndrome" "level of cytochrome b5 reductase 4 in blood serum" + "digital anomalies-intellectual disability-short stature syndrome" "cataract 38" "troponin T, cardiac muscle" "histamine antagonist" @@ -53892,9 +53896,9 @@ "level of V-set and immunoglobulin domain-containing protein 2 in blood serum" "obsolete_Heinz body anemia" "delusional disorder" - "primary parathyroid hyperplasia" "level of exosome complex component RRP43 in blood serum" "Abnormality of urine homeostasis" + "primary parathyroid hyperplasia" "F1" "endophthalmitis" "cholesterol in chylomicrons and extremely large VLDL measurement " @@ -53912,9 +53916,9 @@ "short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome" "progressive bulbar palsy of childhood" "obsolete_rosette leaf" + "BICD family-like cargo adapter 1" "level of glycerophosphocholine phosphodiesterase GPCPD1 in blood serum" "milligram per kilogram per day" - "BICD family-like cargo adapter 1" "cutaneous melanoma" "intraocular pressure measurement" "level of importin subunit alpha-5 in blood serum" @@ -53947,13 +53951,13 @@ "lissencephaly type 1 due to doublecortin gene mutation" "obsolete_developmental and speech delay due to SOX5 deficiency" "isochromosomy Yp" - "Ovarian Serous Adenofibroma" "hereditary thrombocytopenia with normal platelets" + "Ovarian Serous Adenofibroma" "Prader-Willi-like syndrome due to point mutation" "Vogt-Koyanagi-Harada disease" "protein FAM171A1" - "lymphocyte measurement" "obsolete_Carbamoyl-phosphate synthase deficiency" + "lymphocyte measurement" "CUB domain containing protein 1 measurement" "obsolete_branchiostegal ray 3" "DNA-directed RNA polymerase III subunit RPC6" @@ -54000,23 +54004,23 @@ "transcription factor ATOH1" "type 1 diabetes mellitus 20" "hyperthyroxinemia" - "complement C1q and tumor necrosis factor-related protein 9A measurement" "RNA-seq of non coding RNA from single cells" - "colorectal tubulovillous adenoma" + "complement C1q and tumor necrosis factor-related protein 9A measurement" "paracetamol sulfate" + "colorectal tubulovillous adenoma" "Cervical hypertrichosis - peripheral neuropathy" "level of zinc finger protein with KRAB and SCAN domains 7 in blood serum" "Central Nervous System Anaplastic Large Cell Lymphoma" "parathyroid hormone-related protein measurement" - "suppurative otitis media" "level of Phosphatidylcholine (O-18:2_20:4) in blood serum" + "suppurative otitis media" "leukocyte immunoglobulin-like receptor subfamily B member 4" "level of transcriptional enhancer factor TEF-3 in blood serum" "level of urotensin-2B in blood serum" "GM17795" "Intellectual disability - obesity - brain malformations - facial dysmorphism" - "obsolete_autosomal dominant popliteal pterygium syndrome" "level of ubiquitin-conjugating enzyme E2 J1 in blood serum" + "obsolete_autosomal dominant popliteal pterygium syndrome" "aldo-keto reductase family 1 member B10" "obsolete_Neu-Laxova syndrome" "CE(14:1(9Z))" @@ -54066,12 +54070,12 @@ "Lethal arthrogryposis - anterior horn cell disease" "dyskeratosis congenita, autosomal dominant 2" "obsolete_metabolite" + "B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio" "G0/G1 switch protein 2" "malignant teratoma" "espin" "embryonic day 15.5" "Ziegler-Huang syndrome" - "B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio" "Geobacter sulfurreducens PCA" "Hyperphenylalaninemia" "placenta growth factor measurement"@en @@ -54104,8 +54108,8 @@ "fasting C-peptide measurement" "ITV" "level of dynein light chain roadblock-type 2 in blood serum" - "lignoceroylcarnitine (C24) measurement" "neurofilament light polypeptide" + "lignoceroylcarnitine (C24) measurement" "field study" "obsolete_childhood-onset epilepsy syndrome" "Nicotiana benthamiana" @@ -54131,22 +54135,22 @@ "level of semaphorin-3G in blood serum" "hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities" "low-level copy number gain" - "obsolete_autosomal dominant trichoodontoonychodysplasia-syndactyly" "level of DnaJ homolog subfamily B member 3 in blood serum" + "obsolete_autosomal dominant trichoodontoonychodysplasia-syndactyly" "stanniocalcin-2 measurement" "peroxidasin" "peptidyl-prolyl cis-trans isomerase NIMA-interacting 4" + "obsolete_congenital muscular dystrophy with intellectual disability and severe epilepsy" "platelet larger cell ratio" "renal agenesis, unilateral" "right ventricular function"@en "acute endophthalmitis" - "obsolete_congenital muscular dystrophy with intellectual disability and severe epilepsy" "negative regulation of wound healing" "level of tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6 in blood serum" "age of onset of type 1 diabetes mellitus" "obsolete_qualitative or quantitative defects of protein O-mannosyltransferase 1" - "doxycycline" "obsolete_limb-mammary syndrome" + "doxycycline" "ectropion" "COL4A1-related disorder" "SPONASTRIME dysplasia" @@ -54158,8 +54162,8 @@ "level of peflin in blood serum" "collagen alpha-1(XIII) chain" "FISSEQ" - "level of NAD-dependent protein deacetylase sirtuin-3, mitochondrial in blood serum" "X-05907 measurement" + "level of NAD-dependent protein deacetylase sirtuin-3, mitochondrial in blood serum" "cysteine-rich protein 1" "free cholesterol in small HDL measurement " "emphysema pattern measurement" @@ -54180,8 +54184,8 @@ "heat shock protein 105 kDa" "level of CD72 molecule in blood serum" "level of coxsackievirus and adenovirus receptor in blood serum" - "tumor of adipose tissue" "suicide behaviour measurement" + "tumor of adipose tissue" "transvaginal ultrasound-guided oocyte retrieval" "Dickkopf-related protein 3 measurement" "trans-4-hydroxyproline measurement" @@ -54192,9 +54196,9 @@ "calpain small subunit 2" "data item" "obsolete_Ehlers-Danlos syndrome, vascular type" - "immunoglobulin M measurement" "Marchantia polymorpha subsp. polymorpha" "osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome" + "immunoglobulin M measurement" "Gynecomastia" "level of matrix metalloproteinase-19 in blood serum" "pyruvate carboxylase deficiency, severe neonatal type" @@ -54276,16 +54280,16 @@ "obsolete_adenine phosphoribosyltransferase deficiency" "Central nervous system calcification - deafness - tubular acidosis - anemia" "obsolete_oculocutaneous or ocular albinism" - "supramarginal gyrus volume measurement"@en "obsolete_12p12.1 microdeletion syndrome" - "trichoodontoonychial dysplasia" + "supramarginal gyrus volume measurement"@en "C18:1 carnitine measurement" + "trichoodontoonychial dysplasia" "level of ADP-ribosylation factor-like protein 11 in blood serum" "obsolete_parotid gland" "obsolete_Naegeli-Franceschetti-Jadassohn syndrome" "carbohydrate sulfotransferase 14 measurement" - "pappalysin‐1 measurement"@en "secreted frizzled-related protein 1 measurement" + "pappalysin‐1 measurement"@en "obsolete_response to high-dose melphalan" "scrotal carcinoma" "basal endosperm transfer layer" @@ -54308,8 +54312,8 @@ "3-hydroxyisobutyric aciduria" "Cyanophage S-BnM1" "obsolete_carpotarsal osteochondromatosis" - "3beta,7alpha-dihydroxy-5-cholestenoate measurement" "Vulvar Squamous Cell Carcinoma" + "3beta,7alpha-dihydroxy-5-cholestenoate measurement" "obsolete_Joubert syndrome" "level of complement C1q tumor necrosis factor-related protein 4 in blood serum" "glutamate receptor ionotropic, delta-1" @@ -54353,8 +54357,8 @@ "CS57740" "level of lymphocyte antigen 6 complex locus protein G6d in blood serum" "obsolete_X-linked spondyloepimetaphyseal dysplasia" - "nuclear factor erythroid 2-related factor 2" "placental site trophoblastic tumor" + "nuclear factor erythroid 2-related factor 2" "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis" "obsolete_alpha-N-acetylgalactosaminidase deficiency type 3" "15q11q13 microduplication syndrome" @@ -54450,11 +54454,11 @@ "Hemoglobin A2 to Total Hemoglobin Ratio Measurement" "Ocular Melanoma" "Bifidobacterium longum" - "bacteroidales seropositivity" - "protein transport protein Sec61 subunit gamma measurement" "childhood brainstem astrocytoma" - "Kn-0" + "bacteroidales seropositivity" "Abnormality of the dentition" + "Kn-0" + "protein transport protein Sec61 subunit gamma measurement" "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" "leukocyte esterase measurement" "partial deletion of the long arm of chromosome X" @@ -54500,8 +54504,8 @@ "NCI-H2803" "nephrolithiasis" "Abnormal frontal bone morphology" - "technician" "Secondary glaucoma due to a proliferation and differentiation anomaly" + "technician" "acquired pituitary hormone deficiency" "obsolete_colorectal cancer" "level of Phosphatidylcholine (18:0_22:6) in blood serum" @@ -54514,10 +54518,10 @@ "integrin alpha-I: beta-1 complex measurement" "hemihyperplasia-multiple lipomatosis syndrome" "obsolete_autosomal recessive lymphoproliferative disease" - "syphilitic aortitis" "GM17738" "anti-SARS-CoV-2 IgG measurement"@en "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" + "syphilitic aortitis" "Hepatic necrosis" "vitamin D" "Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type" @@ -54556,9 +54560,9 @@ "mixed sex population" "craniosynostosis syndrome, autosomal recessive" "NKG2-F type II integral membrane protein" + "obsolete_hypomyelination with brain stem and spinal cord involvement and leg spasticity" "obsolete_partial duplication of the long arm of chromosome 1" "fallopian tube adenocarcinoma" - "obsolete_hypomyelination with brain stem and spinal cord involvement and leg spasticity" "Bardet-Biedl syndrome 9" "CB4857" "NOD.B10" @@ -54591,8 +54595,8 @@ "programmed cell death 1 ligand 2 measurement" "Hemoglobin Barts to Total Hemoglobin Ratio Measurement" "echinococcosis" - "magnesium sulfate" "level of 40S ribosomal protein S25 in blood serum" + "magnesium sulfate" "calcareous tooth" "obsolete_pulmonary alveolus" "hepcidin:transferrin saturation ratio" @@ -54711,14 +54715,14 @@ "mulibrey nanism" "cyclin-dependent kinase 4 inhibitor B" "leukocyte immunoglobulin-like receptor subfamily B member 5" - "intersectin-1 measurement" - "fibula fracture" "cyclazosin hydrochloride" "Onthophagus nigriventris" + "intersectin-1 measurement" "level of cytoglobin in blood serum" "benign neoplasm of spleen" - "Chlamydia pneumoniae seropositivity" + "fibula fracture" "ovarian hyperstimulation syndrome" + "Chlamydia pneumoniae seropositivity" "caspase-5" "syntaxin-2" "obsolete_pigmented paravenous retinochoroidal atrophy" @@ -54814,8 +54818,8 @@ "cadherin-15 measurement" "Diminished ability to concentrate" "level of lysyl oxidase homolog 2 in blood serum" - "obsolete_autosomal recessive distal osteolysis syndrome" "olecranon bursitis" + "obsolete_autosomal recessive distal osteolysis syndrome" "chronic endophthalmitis" "eosinophil peroxidase deficiency" "hypoplastic left heart syndrome" @@ -54845,8 +54849,8 @@ "corpus callosum central volume measurement"@en "skull base meningioma" "Lactococcus lactis subsp. lactis Il1403" - "obsolete_mosaic trisomy 1" "ATP-dependent 6-phosphofructokinase, muscle type" + "obsolete_mosaic trisomy 1" "Ishikawa" "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" "cardiovascular system" @@ -54861,9 +54865,9 @@ "renal hypoplasia" "humero-radial synostosis, unilateral" "obsolete_partial duplication of chromosome 8" + "amp kinase (alpha1beta1gamma1) measurement" "infratentorial cancer" "age of onset of type 2 diabetes mellitus" - "amp kinase (alpha1beta1gamma1) measurement" "picolinate measurement" "junctional epidermolysis bullosa with pyloric atresia" "receptive language perception" @@ -54879,8 +54883,8 @@ "fish eye disease" "T-box transcription factor TBX5" "Nystagmus" - "X-06126 measurement" "level of protein Smaug homolog 2 in blood serum" + "X-06126 measurement" "free cholesterol in small LDL measurement " "GABAergic neuron" "level of synembryn-A in blood serum" @@ -54900,8 +54904,8 @@ "obsolete_keratinopathic ichthyosis" "obsolete_congenital elbow dislocation, unilateral" "level of C-X-C motif chemokine 14 in blood serum" - "neoplasm of esophagus" "qualitative or quantitative defects of alpha-dystroglycan" + "neoplasm of esophagus" "obsolete_non-distal trisomy 9q" "diclofenac sodium" "intermediate coronary syndrome" @@ -54912,8 +54916,8 @@ "familial hyperlipidemia" "influenza B seropositivity" "phosphatidylcholine diacyl C32:2 measurement" - "obsolete_ileum" "arachidonoylcarnitine (C20:4) measurement" + "obsolete_ileum" "dipetalonemiasis" "triacylglycerol 52:5 measurement"@en "white wine liking measurement" @@ -54963,17 +54967,17 @@ "scrapie" "thiopurine immunosuppressant-induced pancreatitis" "Saccharomyces bayanus" - "obsolete_syndromic lymphedema" "secretin measurement" + "obsolete_syndromic lymphedema" "START domain-containing protein 10" "PFAPA syndrome" "Abnormal cornea morphology" "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1" - "protocadherin-15 measurement" "1-eicosadienoylglycerophosphocholine measurement" "interleukin-26 (Homo sapiens)" "branched-chain-amino-acid aminotransferase, mitochondrial" "metastatic neoplasm" + "protocadherin-15 measurement" "level of Phosphatidylcholine (16:0_16:0) in blood serum" "limited phosphate treatment" "alkaline phosphatase, tissue-nonspecific isozyme" @@ -54995,8 +54999,8 @@ "Parotid Gland Carcinoma" "obsolete_congenital absence/hypoplasia of thumb, unilateral" "unilateral focal polymicrogyria" - "obsolete_deafness-craniofacial syndrome" "Theiler stage 20" + "obsolete_deafness-craniofacial syndrome" "probable oxidoreductase PXDNL" "Geospiza magnirostris" "phosphate ion homeostasis" @@ -55040,8 +55044,8 @@ "NOZ"@en "biological sex" "trinucleotide repeat-containing gene 6B protein" - "X-14057 measurement" "level of polyphosphoinositide phosphatase in blood serum" + "X-14057 measurement" "obsolete_Charcot-Marie-Tooth disease type 1E" "focal segmental glomerulosclerosis and neurodevelopmental syndrome" "trigonocephaly 2" @@ -55080,8 +55084,8 @@ "ephrin type-a receptor 10 measurement" "atelosteogenesis type II" "obsolete_formiminoglutamic aciduria" - "X-linked distal arthrogryposis multiplex congenita" "Pathologic fracture" + "X-linked distal arthrogryposis multiplex congenita" "retroperitoneal sarcoma" "MOB kinase activator 1A measurement" "Vasovagal syncope" @@ -55149,10 +55153,10 @@ "GM17193" "neurodevelopmental disorder with hypotonia and gross motor and speech delay" "Anti-Helicobacter pylori IgG measurement" - "MKN7" "level of keratin, type I cytoskeletal 20 in blood serum" - "alkylating agent" + "MKN7" "Cortical tubers" + "alkylating agent" "obsolete_bilateral frontoparietal polymicrogyria" "level of kinetochore protein NDC80 in blood serum" "encephalopathy due to hydroxykynureninuria" @@ -55220,9 +55224,9 @@ "obsolete_Caffey disease" "prostate gland cancer cell" "eukaryotic translation initiation factor 1A, X-chromosomal" + "Rare disease with glaucoma as a major feature" "actin-related protein 2/3 complex subunit 3 measurement" "ventral tegmental area" - "Rare disease with glaucoma as a major feature" "membrane-enclosed lumen" "level of gamma-glutamylcyclotransferase in blood serum" "pseudokinase FAM20A" @@ -55242,8 +55246,8 @@ "peeling skin syndrome 6" "level of calcitonin receptor in blood serum" "orofaciodigital syndrome type 12" - "g-protein coupled receptor 26 measurement" "macular coloboma-cleft palate-hallux valgus syndrome" + "g-protein coupled receptor 26 measurement" "Citrobacter koseri" "femtomolar" "p-hydroxyphenylacetate measurement" @@ -55289,8 +55293,8 @@ "C57BL/6NCrl" "Crimean-Congo hemorrhagic fever virus" "phagocyte bactericidal dysfunction" - "Hair-pulling" "level of calcipressin-3 in blood serum" + "Hair-pulling" "Gollop-Wolfgang complex" "level of lysophospholipase D GDPD1 in blood serum" "immunoglobulin heavy constant gamma 4 measurement" @@ -55355,10 +55359,10 @@ "level of metabotropic glutamate receptor 4 in blood serum" "CXCL10 measurement" "obsolete_intersegmental vessel" - "7q11.23 microduplication syndrome" "quinate measurement" - "intercostal muscle" + "7q11.23 microduplication syndrome" "RIP-Chip by array" + "intercostal muscle" "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome" "corneal endothelium" @@ -55392,8 +55396,8 @@ "level of mitochondrial import inner membrane translocase subunit Tim8 A in blood serum" "level of securin in blood serum" "phosphatidylcholine O-36:5" - "protein FAM163B" "Tyrosinemia type 1" + "protein FAM163B" "N-acetyl-L-tryptophan" "obsolete_Cockayne syndrome type 2" "congenital dyserythropoietic anemia type 3" @@ -55795,13 +55799,6 @@ "oral-facial-digital syndrome 13" "OFD syndrome 13" "short foot/brachydactyly of toes, camptodactyly, brachydactyly" - "infections, echo Virus" - "infection, Echovirus" - "echo Virus infection" - "infections, Echovirus" - "echo Virus infections" - "Echovirus infection" - "infection, echo Virus" "1,1,1-trifluoro-2-chloro-2-bromoethane" "Narcotane" "2,2,2-trifluoro-1-chloro-1-bromoethane" @@ -55812,6 +55809,13 @@ "2-bromo-2-chloro-1,1,1-trifluoroethane" "1,1,1-trifluoro-2-bromo-2-chloroethane" "Rhodialothan" + "infections, echo Virus" + "infection, Echovirus" + "echo Virus infection" + "infections, Echovirus" + "echo Virus infections" + "Echovirus infection" + "infection, echo Virus" "islet cell tumor, ulcerogenic" "P1 Rect" "rectum specific anlage" @@ -58192,13 +58196,13 @@ "arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities" "arthrogryposis multiplex congenita, distal, type 2B" "oxylipins" + "RUIJS-Aalfs syndrome" + "RJALS" "4-HPB" "Betuligenol" "Rhododendrol" "amyotrophy, thenar, of carpal origin" "CTS" - "RUIJS-Aalfs syndrome" - "RJALS" "Bet" "acidol" "Trimethylammonioacetate" @@ -60614,6 +60618,10 @@ "Thrombocytopathy asplenia miosis" "STRMK" "Stormorken-Sjaastad-Langslet syndrome" + "pain, nerve" + "pain, neuropathic" + "paroxysmal nerve pains" + "paroxysmal nerve pain" "thyroid gland follicular adenoma of oxyphilic cell type" "thyroid oncocytic adenoma" "oncocytic adenoma of the thyroid gland" @@ -60639,10 +60647,6 @@ "follicular adenoma of the thyroid gland of the oxyphilic cell type" "benign oncocytoma of thyroid gland" "benign thyroid gland oncocytoma" - "pain, nerve" - "pain, neuropathic" - "paroxysmal nerve pains" - "paroxysmal nerve pain" "octanedioate(2-)" "suberate" "C8-DCA(2-)" @@ -65908,8 +65912,8 @@ "[N2-[(S)-1-CARBOXY-3-PHENYLPROPYL]-L-LYSYL-L-PROLINE" "(S)-1-(N(2)-(1-carboxy-3-phenylpropyl)-L-lysyl)-L-proline" "lisinopril anhydrous" - "adenoid cystic carcinoma of ethmoid sinus" "LIDLS" + "adenoid cystic carcinoma of ethmoid sinus" "N-(L-Arginino)succinate" "N(omega)-(L-Arginino)succinate" "N-(L-arginino) succinate" @@ -66869,7 +66873,6 @@ "rare ataxia" "ataxias, cerebellar" "ataxia, cerebellar" - "globozoospermia" "N-{[(3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-isochromen-7-yl]carbonyl}-L-phenylalanine" "(R)-N-((5-chloro-3,4-dihydro-8-hydroxy-3-methyl-1-oxo-1H-2-benzopyran-7-yl)carbonyl)phenylalanine" "OTA" @@ -66877,6 +66880,7 @@ "N-(((3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-7-isochromanyl)carbonyl)-3-phenyl-L-alanine" "(2S)-2-{[(3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-carbonyl]amino}-3-phenylpropanoic acid" "(-)-N-((5-chloro-8-hydroxy-3-methyl-1-oxo-7-isochromanyl)carbonyl)-3-phenylalanine" + "globozoospermia" "ketoaciduria - intellectual disability - ataxia - deafness" "RICHARDS-RUNDLE syndrome" "familial ataxia-hypogonadism syndrome" @@ -68563,8 +68567,8 @@ "molybdenum cofactor deficiency, complementation group A" "molybdenum cofactor deficiency type A" "sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of" - "endocrine part of pancreas" "islets of Langerhans part of pancreas" + "endocrine part of pancreas" "BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome" "NDGOA" "SPG79" @@ -69214,6 +69218,14 @@ "susceptibility to acute lymphoblastic leukaemia 3" "ALL3" "susceptibility to acute lymphoblastic leukemia 3" + "granular and lattice corneal dystrophies" + "corneal dystrophy, AVELLINO type" + "CDA" + "combined granular-lattice corneal dystrophies" + "granular corneal dystrophy, type 2" + "ACD" + "corneal dystrophy Avellino type" + "granular-lattice (Avellino) corneal dystrophy" "Kochsalz" "natrii chloridum" "Natriumchlorid" @@ -69225,14 +69237,6 @@ "NaCl" "chlorure de sodium" "table salt" - "granular and lattice corneal dystrophies" - "corneal dystrophy, AVELLINO type" - "CDA" - "combined granular-lattice corneal dystrophies" - "granular corneal dystrophy, type 2" - "ACD" - "corneal dystrophy Avellino type" - "granular-lattice (Avellino) corneal dystrophy" "androgens" "androgenes" "Androgene" @@ -71277,14 +71281,14 @@ "chromosome XXXXX syndrome" "penta-X syndrome" "hepato-renal syndrome" - "head neural crest" - "crista neuralis cranialis" - "head crest" "Palatodigital syndrome Catel-Manzke type" "Catel Manzke syndrome" "CATMANS" "Pierre Robin syndrome with hyperphalangy and clinodactyly" "index finger anomaly with Pierre Robin syndrome" + "head neural crest" + "crista neuralis cranialis" + "head crest" "sickle cell - haemoglobin C disease" "sickle cell - hemoglobin C disease" "Phosphorothioic acid, O,O-diethyl O-(6-methyl-2-(1-methylethyl)-4-pyrimidinyl) ester" @@ -75310,9 +75314,9 @@ "thyrotropin-releasing hormone deficiency" "TRH deficiency" "hypothalamic hypothyroidism" + "spastic paraplegia 57, autosomal recessive" "CIID" "ICF syndrome" - "spastic paraplegia 57, autosomal recessive" "STXBP1-related early-onset encephalopathy" "myopathy, limb-girdle, with bone fragility" "bone dysplasia with medullary fibrosarcoma" @@ -76180,8 +76184,8 @@ "neuropathy, hereditary motor and sensory, Okinawa type" "alpha-amino-p-hydroxybenzylpenicillin" "Amoxicillin anhydrous" - "amoxicillin" "amoxycilin" + "amoxicillin" "amoxycillin" "Clamoxyl" "(2S,5R,6R)-6-{[(2R)-2-amino-2-(4-hydroxyphenyl)acetyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid" @@ -76436,13 +76440,13 @@ "mental retardation, autosomal dominant 23" "intellectual disability, autosomal dominant 23" "autosomal dominant non-syndromic intellectual disability 23" - "chromosome 16p13.3 duplication" - "interstitial 16p13.3 duplication" - "16p13.3 duplication" "Riddeliine" "Riddelline" "Riddeliin" "18-Hydroxyseneciphylline" + "chromosome 16p13.3 duplication" + "interstitial 16p13.3 duplication" + "16p13.3 duplication" "anterior cervical hypertrichosis" "hypertrichosis, anterior cervical" "hairy throat" @@ -77496,8 +77500,8 @@ "fetal placenta" "villous chorion" "placental villus" - "placental villi" "chorionic villus" + "placental villi" "chorionic villous" "villous of placenta" "embryonic placenta" @@ -79558,10 +79562,10 @@ "spastic paraplegia 31" "spastic paraplegia 31, autosomal dominant" "Cervical Intraepithelial Neoplasia" - "Intraepithelial Neoplasm, Cervical" "Intraepithelial Neoplasia of the Cervix" "Intraepithelial Neoplasia of Cervix" "Cervical Dysplasia" + "Intraepithelial Neoplasm, Cervical" "Intraepithelial Neoplasia of Cervix Uteri" "Intraepithelial Neoplasms, Cervical" "Uterine Cervix Intraepithelial Neoplasia" @@ -80465,16 +80469,16 @@ "hereditary symmetrical aplastic nevi of temples" "carbohydrate-deficient glycoprotein syndrome type 1I" "ALG2-CDG (CDG-II)" - "osteodysgenesis, multisynostotic, with fractures" - "osteodysgenesis, multisynostotic with fractures" - "Antley Bixler syndrome" - "multisynostotic osteodysgenesis with long bone fractures" - "trapezoidocephaly synostosis syndrome" "sparse hair and mental retardation" "NBs" "NCBRS" "sparse hair and intellectual disability" "NICOLAIDES-Baraitser syndrome" + "osteodysgenesis, multisynostotic, with fractures" + "osteodysgenesis, multisynostotic with fractures" + "Antley Bixler syndrome" + "multisynostotic osteodysgenesis with long bone fractures" + "trapezoidocephaly synostosis syndrome" "Psychomotor retardation, profound" "M-CMTC" "macrocephaly-cutis marmorata telangiectatica congenita" @@ -80589,15 +80593,15 @@ "glycosuria, renal" "GLYS" "RTPS2" - "MDDGC12" - "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" - "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" "dystrophia myotonica 2" "myotonic dystrophy 2" "myotonic myopathy, proximal" "PROMM" "dystrophia myotonica type 2" "DM2" + "MDDGC12" + "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" + "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" "sulfanylpurines" "mercaptopurines" "thiopurines" @@ -82476,11 +82480,11 @@ "MARCH" "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly" "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly" - "chorea familial benign" - "benign hereditary chorea" "iris hypoplasia with early-onset glaucoma, autosomal dominant" "iridogoniodysgenesis type 2" "ASGD4" + "chorea familial benign" + "benign hereditary chorea" "PPH1" "pulmonary hypertension, primary, 1" "synovitis granulomatous with uveitis and cranial neuropathies" @@ -84529,13 +84533,13 @@ "Guadalajara camptodactyly syndrome type II" "diabetes mellitus, insulin-dependent, 10" "diabetes, mellitus, insulin-dependent, susceptibility to, 10" - "BNAH2" "hypocalciuric hypercalcemia, familial, type II" "hypercalcemia, familial benign type 2" "familial benign hypercalcemia, type 2" "hypocalciuric hypercalcemia, familial, type 2" "FBH2" "hypercalcemia, familial benign, type 2" + "BNAH2" "Charcot-Marie-Tooth neuropathy, dominant Intermediate D" "MPZ-related intermediate Charcot-Marie-Tooth neuropathy" "Charcot Marie Tooth disease dominant intermediate 3" @@ -86078,13 +86082,13 @@ "amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism" "amelogenesis imperfecta, type IV" "Hypoplasia of columella" - "dwarfism thanatophoric" "PNGase A" "PNGase F" "N-linked-glycopeptide-(N-acetyl-beta-D-glucosaminyl)-L-asparagine amidohydrolase activity" "N-glycanase activity" "N-oligosaccharide glycopeptidase activity" "peptide:N-glycanase" + "dwarfism thanatophoric" "Valproate sodium" "Epilim" "valproic acid sodium salt" @@ -86390,8 +86394,8 @@ "polyneuropathy intellectual disability acromicria premature menopause" "Gastrointestinal hamartomatous polyps" "COGIS" - "glomerular capillaries" "glomerular capillary system" + "glomerular capillaries" "nucleus proprius stria terminalis (bed nucleus)" "nucleus interstitialis striae terminalis" "nucleus of the stria terminalis" @@ -86933,9 +86937,9 @@ "dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome" "Endocrine system disease" "Open mouth appearance" + "thrombocyte aggregation" "IDDSFTA" "INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities" - "thrombocyte aggregation" "HIHGHH" "hypoinsulinemic hypoglycemia with hemihypertrophy" "whirler, mouse, homolog of" @@ -87322,13 +87326,13 @@ "EDSCV" "Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" "Cardiac valvular form of Ehlers-Danlos syndrome" + "agammaglobulinemia, microcephaly, and severe dermatitis" "SMMCI syndrome" "Fused incisors" "single central maxillary incisor" "incisors fused" "incisors, Fused" "solitary MEDIAN maxillary central incisor" - "agammaglobulinemia, microcephaly, and severe dermatitis" "dystonia 26, myoclonic" "DYT26" "osteogenesis imperfecta congenita perinatal lethal form" @@ -88536,12 +88540,12 @@ "muscular dystrophy, limb-girdle, type 2K" "limb-girdle muscular dystrophy type 2K" "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1" - "tegmentum" "cerebal peduncle" "pedunculi cerebri" "pedunculus cerebralis" "cerebral peduncle (archaic)" "pedunculus cerebri" + "tegmentum" "glycogen storage disease 1A" "glycogen storage disease 1" "glucose-6-phosphatase deficiency glycogen storage disease" @@ -92133,8 +92137,8 @@ "piedra, black" "black Piedras" "White piedra" - "steroid-modified tinea infection" "Piedras, black" + "steroid-modified tinea infection" "piedra, White" "White Piedras" "Piedras, White" @@ -93457,8 +93461,8 @@ "trachea cancer" "cancer of trachea" "tumor of thorax" - "thoracic tumour" "thorax neoplasm" + "thoracic tumour" "thoracic tumor" "tumour of thorax" "retinal tumor" @@ -94924,9 +94928,9 @@ "blood serum phosphoserine phosphatase amount" "Proximal 11p deletion syndrome" "11p11.2 deletion" - "brachycephaly, trichomegaly, and developmental delay" "Hyperuricaemia" "High blood uric acid level" + "brachycephaly, trichomegaly, and developmental delay" "blood serum dynein light chain Tctex-type 3 amount" "blood serum max-interacting protein 1 amount" "neurological disorder" @@ -95038,8 +95042,8 @@ "female organism reproductive organ" "female organism sex organ" "female organism reproductive structure" - "female reproductive system organ" "female reproductive gland/organ" + "female reproductive system organ" "female organism reproductive system organ" "reproductive system organ of female organism" "female sex organ" @@ -95754,12 +95758,12 @@ "OFD13" "oral-facial-digital syndrome type 13" "albinism" - "blood serum cell adhesion molecule DSCAML1 amount" "Bronchioalveolar Adenocarcinoma of Lung" "Bronchiolo-Alveolar Lung Carcinoma" "Bronchioloalveolar Adenocarcinoma of Lung" "Bronchioalveolar Lung Carcinoma" "Bronchiolo-Alveolar Carcinoma of Lung" + "blood serum cell adhesion molecule DSCAML1 amount" "ganglioneuroblastoma, malignant" "ganglioneuroblastoma (morphologic abnormality)" "ganglioneuroblastoma" @@ -95779,14 +95783,14 @@ "Chondrodystrophia calcificans congenita" "CDPX2" "X-linked chondrodysplasia punctata type 2" - "Echovirus disease or disorder" - "Echovirus Infections" - "Echovirus caused disease or disorder" - "Echovirus infectious disease" "Halothane" "2-bromo-2-chloro-1,1,1-trifluoroethane" "Del(6)(p22)" "monosomy 6p22" + "Echovirus disease or disorder" + "Echovirus Infections" + "Echovirus caused disease or disorder" + "Echovirus infectious disease" "blood serum small ribosomal subunit protein eS4, X isoform amount" "Percent Hemoglobin C" "HGBCHGB" @@ -95902,12 +95906,12 @@ "Hereditary motor and sensory neuropathy type 1" "CMT1" "FHH type 2" + "Ankylosis of teeth" "glandular cell neoplasm" "glandular cell epithelium neoplasm" "glandular cell tumor" "glandular cell tumour" "glandular cell epithelial neoplasm" - "Ankylosis of teeth" "blood serum GrpE protein homolog 1, mitochondrial amount" "Say-Barber-Biesecker-Young-Simpson syndrome" "SBBYSS" @@ -96361,8 +96365,8 @@ "emphysema, pulmonary" "Rapid breathing" "Pascual-Castroviejo syndrome type 2" - "H157" "O'Donnell-Pappas syndrome" + "H157" "GM17831 cell" "Interleukin-18 levels" "IL-18 levels" @@ -96399,9 +96403,9 @@ "Dirofilaria disease or disorder" "infection by Dirofilaria" "Dirofilaria infectious disease" - "blood serum Phosphatidylethanolamine (18:0_0:0) amount" "CBA/Ca" "CBA Carter J" + "blood serum Phosphatidylethanolamine (18:0_0:0) amount" "Crane-Heise syndrome" "DC.pDC.8+" "blood serum tensin-2 amount" @@ -96618,13 +96622,13 @@ "pediatric meningioma" "epiphyseal dysplasia, multiple, with myopia and deafness" "multiple epiphyseal dysplasia-myopia-deafness syndrome" + "blood serum ribosome-binding protein 1 amount" "carcinoma of external Ear" "carcinoma of the external Ear" "external ear carcinoma" "external Ear carcinoma" "carcinoma of the external ear" "carcinoma of external ear" - "blood serum ribosome-binding protein 1 amount" "blood serum N-acetylgalactosamine kinase amount" "D-HUS with C3 anomaly" "hemolytic-uremic syndrome without diarrhoea with C3 anomaly" @@ -97637,8 +97641,8 @@ "urinary bladder papillary transitional cell neoplasm" "bladder papillary transitional cell neoplasm" "malignant neoplasm of tonsillar ring" - "malignant neoplasm of Waldeyer's ring" "malignant tonsillar ring neoplasm" + "malignant neoplasm of Waldeyer's ring" "malignant tumour of Waldeyer's ring" "Waldeyer ring cancer" "tonsillar ring cancer" @@ -97649,7 +97653,6 @@ "Cleft ribs" "blood serum hydroxyacylglutathione hydrolase-like protein amount" "blood serum inosine triphosphate pyrophosphatase amount" - "Ray-Peterson-Scott syndrome" "tumour of hypopharynx" "hypopharynx tumor" "tumor of hypopharynx" @@ -97664,6 +97667,7 @@ "neoplasm of hypopharynx" "hypopharynx neoplasm (disease)" "hypopharyngeal tumour" + "Ray-Peterson-Scott syndrome" "Ventricular Hypertrophies, Left" "Hypertrophy, Left Ventricular" "Ventricular Hypertrophy, Left" @@ -97808,12 +97812,12 @@ "uterus disease" "disease of uterus" "disease or disorder of uterus" - "complement activation, lectin pathway disease" - "disorder of complement activation, lectin pathway" "NIH/3T3" "NIH-3T3" "3T3" "NIH 3T3" + "complement activation, lectin pathway disease" + "disorder of complement activation, lectin pathway" "blood serum aldo-keto reductase family 1 member C3 amount" "CardMesP2" "CardMes" @@ -98045,11 +98049,11 @@ "osteochondritis of phalangeal epiphyses" "aseptic necrosis of phalangeal epiphyses" "GM17194 cell" + "SPG14" "gram per square meter" "gram per metre squared" "g/m^2" "blood serum keratin, type II cytoskeletal 6A amount" - "SPG14" "cervical intraepithelial neoplasia grade 2 (disorder)" "Dysplasia of cervix (disorder)" "Low-grade Intraepithelial Neoplasia of Cervix Uteri" @@ -98373,6 +98377,13 @@ "Pediatric Acute Megakaryoblastic Leukemia" "M7 Childhood Acute Megakaryocytic Leukemia" "Childhood Acute Megakaryocytic Leukemia" + "cardiomyopathy, hypertrophic, 17" + "cardiomyopathy, familial hypertrophic, type 17" + "hypertrophic cardiomyopathy type 17" + "JPH2 hypertrophic cardiomyopathy" + "cardiomyopathy familial hypertrophic 17" + "hypertrophic cardiomyopathy caused by mutation in JPH2" + "CMH17" "Bubalis bubalis" "Bubalus arnee" "river buffalo" @@ -98381,13 +98392,6 @@ "Bubalus arnee bubalis" "domestic water buffalo" "Bubalus bubalus" - "cardiomyopathy, hypertrophic, 17" - "cardiomyopathy, familial hypertrophic, type 17" - "hypertrophic cardiomyopathy type 17" - "JPH2 hypertrophic cardiomyopathy" - "cardiomyopathy familial hypertrophic 17" - "hypertrophic cardiomyopathy caused by mutation in JPH2" - "CMH17" "acid-labile subunit, deficiency of" "gaseous pericholecystitis" "Emphysematous Cholecystitis" @@ -99124,9 +99128,9 @@ "age bipolar disorder symptoms begin" "age at onset of bipolar disorder" "acne, adult" - "Anomalie du développement des yeux d'origine génétique" "Hypoplastic acetabula" "Acetabular hypoplasia" + "Anomalie du développement des yeux d'origine génétique" "Penile carcinoma" "(2S)-3,4-dihydro-2H-pyrrole-2-carboxylate" "(S)-1-pyrroline-5-carboxylate" @@ -99167,8 +99171,6 @@ "terminalis nerve" "stem cell" "'Arabidopsis Growth Stage 6.50'" - "48, XXYY syndrome" - "48, XXYY Syndrome" "endometrial tumor" "tumor of endometrium" "neoplasm of endometrium" @@ -99181,6 +99183,8 @@ "tumor of the endometrium" "endometrial neoplasm" "neoplasm of the endometrium" + "48, XXYY syndrome" + "48, XXYY Syndrome" "systemic tissue Mast cell disease" "systemic mastocytosis" "SMCD - systemic mast cell disease" @@ -99216,8 +99220,8 @@ "extramammary Paget's disease" "zone of skin Paget disease" "cutaneous Paget's disease" - "postpartum haemorrhage" "chromosome number anomaly" + "postpartum haemorrhage" "giant cell chondrodysplasia" "atelosteogenesis type 1" "AOI" @@ -99789,6 +99793,7 @@ "left liver lobe" "lobus hepaticus sinister" "blood serum folate receptor gamma amount" + "neoplasm of the hair follicle" "neoplasm of hair follicle" "hair follicle neoplasm" "hair follicle tumor" @@ -99796,7 +99801,6 @@ "tumour of hair follicle" "hair follicle neoplasm (disease)" "tumor of hair follicle" - "neoplasm of the hair follicle" "lethal hydrocephalus-cardiac malformation-dense bones syndrome" "Disorder, Blood Coagulation" "disorders, blood coagulation" @@ -99919,7 +99923,6 @@ "Abnormal skin structure" "Abnormal skin morphology" "Cubital region" - "Hepatolenticular degeneration" "Congenital disorder of glycosylation type 1k" "CDG-Ik" "Mannosyltransferase 1 deficiency" @@ -99930,6 +99933,7 @@ "Del(19)(p13.13)" "monosomy 19p13.13" "chromosome 19p13.13 deletion syndrome" + "Hepatolenticular degeneration" "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 amount" "response to stimulant ADHD agent therapy" "blood serum intraflagellar transport protein 20 amount" @@ -100343,13 +100347,13 @@ "blood serum COP9 signalosome complex subunit 7b amount" "2-oxobutanedioic acid" "Oxaloacetic acid" - "immune deficiency, familial variable" "carcinoma of the penis" "cancer of penis" "penile carcinoma" "penis carcinoma" "cancer of the penis" "carcinoma of penis" + "immune deficiency, familial variable" "Respiratory muscle weakness" "Decreased lung function due to weak breathing muscles" "Respiratory failure due to muscle weakness" @@ -100399,11 +100403,11 @@ "Thumb deformity" "Abnormality of the thumb" "Abnormality of the thumbs" + "hyperplasia, thymus" "GATA2 deficiency with susceptibility to MDS/AML" "GATA2 deficiency" - "blood serum defensin beta 136 amount" "dyskeratosis congenita and related telomere biology disorder" - "hyperplasia, thymus" + "blood serum defensin beta 136 amount" "(2R)-2-hydroxyoctadecanoate" "(R)-2-hydroxyoctadecanoate" "AO3" @@ -100698,8 +100702,8 @@ "Redundant eyelid skin" "Extra eyelid skin" "Eyelid dermatochalasia" - "blood serum cadherin-4 amount" "SPG16" + "blood serum cadherin-4 amount" "blood serum EF-hand domain-containing protein D1 amount" "blood serum visual system homeobox 1 amount" "IL-1beta" @@ -100723,6 +100727,7 @@ "malignant mesothelioma of the pleura" "MPM" "blood serum cAMP-responsive element-binding protein-like 2 amount" + "H-ABC" "CMMR-D" "brain tumor-polyposis syndrome 1" "Turcot Syndrome" @@ -100732,7 +100737,6 @@ "BTP1 syndrome" "MMRCS1" "mismatch repair cancer syndrome 1" - "H-ABC" "iminoglycinuria" "iminoglycinuria, digenic" "Elevated circulating methylmalonic acid concentration" @@ -100807,8 +100811,8 @@ "sleep disturbances" "Sleep Disturbances" "Sleep Disorders" - "parasomnia" "sleep disorder" + "parasomnia" "Disturbances, Sleep" "disturbances, sleep" "sleep disturbance" @@ -100963,8 +100967,8 @@ "Cardiovascular disease, unspecified" "OTHER SEQUELAE OF MI NEC" "Other ill-defined heart disease NOS" - "Disease of cardiovascular system" "[X]Other forms of heart disease" + "Disease of cardiovascular system" "Other specified pericardial disease NOS" "Other diseases of pericardium (disorder)" "Disorder of cardiovascular system (disorder)" @@ -101619,8 +101623,8 @@ "northern bobwhite" "Colinus virginuanus" "common bobwhite" - "Autosomal dominant spasmodic torticollis" "GM17780 cell" + "Autosomal dominant spasmodic torticollis" "Arterial Sclerosis" "Vascular Sclerosis" "BGP measurement" @@ -101680,10 +101684,10 @@ "ALD" "polycythemia (disease)" "erythrocythemia" - "polycythemia" "Erythrocythemia" - "enteropathy-associated T-cell lymphoma of small intestine" + "polycythemia" "small intestinal enteropathy-associated T-cell lymphoma" + "enteropathy-associated T-cell lymphoma of small intestine" "small intestine enteropathy-associated T-cell lymphoma" "small intestinal EATL" "small intestinal enteropathy-type T-cell lymphoma" @@ -101707,7 +101711,6 @@ "Multiple Sclerosis, Acute Relapsing" "Relapsing Remitting Multiple Sclerosis" "blood serum coiled-coil domain-containing protein 134 amount" - "IRD" "(Becker's disease) or (obscure African cardiomyopathy)" "Becker's disease" "Endomyocardial Fibrosis" @@ -101720,6 +101723,7 @@ "autoinflammatory syndrome, familial, X-linked, Behcet-like 2" "deficiency 1n ELF4, X-linked" "AIFBL2" + "IRD" "dioxygen" "blood serum proline-rich protein 15 amount" "HDGC" @@ -101744,8 +101748,8 @@ "Pus-filled lesion" "(8beta)-8-[(methylsulfanyl)methyl]-6-propylergoline methanesulfonate" "Pascual-Castroviejo syndrome type 1" - "segment" "serial element" + "segment" "BMS" "Burning Mouth Syndrome" "stomatodynia" @@ -102360,8 +102364,8 @@ "blood serum TNF receptor-associated factor 4 amount" "NEDMISB" "urological diseases" - "diseases, urologic" "urinary system disorder" + "diseases, urologic" "disorder of renal system" "urinary system disease" "disease, urological" @@ -102393,11 +102397,11 @@ "Freeman-Sheldon syndrome variant" "arthrogryposis, distal, type 2B" "distal arthrogryposis type 2B" + "Ruijs-Aalfs syndrome" "median nerve entrapment" "carpal tunnel median neuropathy" "CTS - carpal tunnel syndrome" "carpal tunnel syndrome" - "Ruijs-Aalfs syndrome" "MKN-28 cell" "MKN28 cell" "MKN-28" @@ -102985,9 +102989,9 @@ "non-syndromic limb hypoplasia" "blood serum neutrophil defensin 3 (human) amount" "GM17196 cell" - "lysosomal alpha-D-mannosidase deficiency, infantile form" "small intestinal dysplasia" "small intestinal intraepithelial neoplasia" + "lysosomal alpha-D-mannosidase deficiency, infantile form" "Aspergillus fumigates" "Neosartorya fumigata" "Sartorya fumigata" @@ -103456,11 +103460,11 @@ "Bardet-Biedl syndrome 15" "Bardet-Biedl syndrome caused by mutation in WDPCP" "BBS15" + "deficiency of (R)-20-hydroxysteroid dehydrogenase" "CORTRD" "11-beta-hydroxysteroid dehydrogenase deficiency type 1" "deficiency of cortisone reductase" "hyperandrogenism due to cortisone reductase deficiency" - "deficiency of (R)-20-hydroxysteroid dehydrogenase" "PCCA" "PDL1" "rare genetic myoclonus" @@ -103568,8 +103572,8 @@ "mitochondrial DNA depletion syndrome caused by mutation in FBXL4" "FBXL4 mitochondrial DNA depletion syndrome" "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" - "blood serum serine protease inhibitor Kazal-type 5 amount" "regulation of mitosis" + "blood serum serine protease inhibitor Kazal-type 5 amount" "fracture of lower limb" "Stye of eyelid" "bladder fistula" @@ -103693,12 +103697,6 @@ "Acro-fronto-facio-nasal syndrome type 2" "Acro-fronto-facio-nasal dysostosis type 2" "Naguib-Richieri-Costa syndrome" - "ADMERF" - "Hereditary inclusion body myopathy with early respiratory failure" - "Myofibrillar myopathy with early respiratory failure" - "HMERF" - "HIBM-ERF" - "Edström Myopathy" "osteoclast-poor osteopetrosis" "mild autosomal recessive form osteopetrosis" "autosomal recessive osteopetrosis type 2" @@ -103708,6 +103706,12 @@ "OPTB2" "TNFSF11 autosomal recessive osteopetrosis" "autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11" + "ADMERF" + "Hereditary inclusion body myopathy with early respiratory failure" + "Myofibrillar myopathy with early respiratory failure" + "HMERF" + "HIBM-ERF" + "Edström Myopathy" "blood serum polyadenylate-binding protein 5 amount" "mental retardation, autosomal dominant type 8" "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1" @@ -103718,8 +103722,8 @@ "autosomal dominant mental retardation 8" "GRIN1 autosomal dominant non-syndromic intellectual disability" "HCC33" - "Autosomal Dominant Interstitial Kidney Disease" "CME W1" + "Autosomal Dominant Interstitial Kidney Disease" "blood serum a disintegrin and metalloproteinase with thrombospondin motifs 6 amount" "prion disease pathway" "prion induced disorder" @@ -104010,6 +104014,7 @@ "chromoblastomycosis" "mossy foot disease" "Chromomycosis" + "L-phenylalanylglycine" "T-cell childhood acute lymphocytic leukemia" "T-cell paediatric acute lymphoblastic leukaemia" "childhood T-cell acute lymphoblastic leukemia" @@ -104027,7 +104032,6 @@ "T-cell childhood acute lymphoblastic leukemia" "childhood T-ALL" "T-cell childhood ALL" - "L-phenylalanylglycine" "HHV-8-related disorder" "arthrogryposis, impaired intellectual development, and seizures" "SLC35A3-CDG" @@ -104094,13 +104098,13 @@ "blood serum death-inducer obliterator 1 amount" "blood serum phosphoglycerate kinase 2 amount" "microcephaly-micromelia syndrome" + "blood serum (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol amount" "thyroid gland spindle cell tumor with thymus-like differentiation" "settle" "settle tumor" "settle tumour" "spindle epithelial tumour with thymus-like differentiation tumour" "spindle epithelial tumor with thymus-like differentiation tumor" - "blood serum (5Z,7E)-(3S)-26,26,26-trifluoro-27-nor-9,10-seco-5,7,10(19)-cholestatriene-3,25-diol amount" "CD8-alpha-alpha-positive, alpha-beta intraepithelial T-lymphocyte" "CD8-alpha-alpha-positive, alpha-beta intraepithelial T lymphocyte" "CD8-alpha-alpha-positive, alpha-beta intraepithelial T-cell" @@ -104381,13 +104385,13 @@ "observed copy number variation" "muscular dystrophy-dystroglycanopathy" "CMD due to dystroglycanopathy" - "TAG 56:8" "invasive ductal carcinoma cell" "breast infiltrating ductal carcinoma cell" "IDC cell" "Stage R1 Open flower at any node on the main stem" "Arabidopsis Growth Stage 6.10" "Arabidopsis Growth Stage 5.10" + "TAG 56:8" "BBS" "Chemokine (C-C motif) ligand 4 level" "Chemokine (C-C motif) ligand 4 measurement" @@ -104405,8 +104409,6 @@ "multipotent stem cell" "multipotent cell" "multifate stem cell" - "iliopsoas abscess" - "Psoas muscle abscess" "Costa's acrokeratoelastoidosis" "|punctate palmoplantar keratoderma type 3" "ake" @@ -104416,6 +104418,8 @@ "punctate palmoplantar keratoderma type III" "acrokeratoelastoidosis of Costa" "punctate palmoplantar keratoderma type 3" + "iliopsoas abscess" + "Psoas muscle abscess" "2-hydroxy-2-(4-hydroxy-3-methoxyphenyl)acetate" "regio occipitalis" "central nervous system primitive neuroectodermal neoplasm of adults" @@ -104460,9 +104464,6 @@ "blood serum semaphorin-4B amount" "COLO-849" "Burkholderia pseudomallei-like species" - "Ectromelia, Infectious" - "Mousepox (disorder)" - "infectious ectromelia" "Liver Fibrosis" "CL - Cirrhosis of liver" "Liver Fibroses" @@ -104484,6 +104485,9 @@ "Cirrhosis of liver NOS" "Cirrhoses, Liver" "Cirrhoses, Hepatic" + "Ectromelia, Infectious" + "Mousepox (disorder)" + "infectious ectromelia" "blood serum MORF4 family-associated protein 1-like 1 amount" "thrombocytopenia, X-linked, X-linked recessive" "thrombocytopenia, X-linked, intermittent, X-linked recessive" @@ -105054,28 +105058,28 @@ "Salmonella kentucky" "glandula sudorifera apocrina" "2p21 contiguous gene deletion syndrome" + "Monosomy 14q22q23" + "14q22-q23 microdeletion syndrome" + "Del(14)(q22q23)" + "Monosomy 14q22-q23" "6-[4-(difluoromethoxy)-3-methoxyphenyl]pyridazin-3(2H)-one" "erythrocytosis, familial, 4" "familial polycythemia caused by mutation in EPAS1" "EPAS1 familial polycythemia" "erythrocytosis, familial, type 4" - "Monosomy 14q22q23" - "14q22-q23 microdeletion syndrome" - "Del(14)(q22q23)" - "Monosomy 14q22-q23" "Pregnancies" "Gestation" "PREGN" "Rh-null syndrome" + "Klippel-Trenaunay-Weber Syndrome" + "angioosteohypertrophy syndrome" + "Haemangiectatic hypertrophy" + "Klippel-Trenaunay-Weber syndrome" "collagen VI-related muscular dystrophy" "collagen VI-related muscle disorder" "collagen VI-related dystrophy" "collagen VI-related myopathy" "collagen 6-related myopathy" - "Klippel-Trenaunay-Weber Syndrome" - "angioosteohypertrophy syndrome" - "Haemangiectatic hypertrophy" - "Klippel-Trenaunay-Weber syndrome" "blood serum leucine-rich repeat-containing protein 3 amount" "blood serum methanethiol oxidase amount" "AML, 5q31-32 Deletion" @@ -105154,11 +105158,11 @@ "early-onset primary dystonia" "blood serum cilia- and flagella-associated protein 300 amount" "blood serum acyl-coenzyme A thioesterase THEM4 amount" + "Ayazi syndrome" "Ornithine aminotransferase deficiency" "Hyperornithinemia - gyrate atrophy of choroid and retina" "HOGA" "Hyperornithinemia" - "Ayazi syndrome" "GM17145 cell" "glycogenosis type IV, progressive hepatic form" "GSDIV, progressive hepatic form" @@ -105215,11 +105219,11 @@ "autosomal dominant cerebellar ataxia caused by mutation in MME" "SMARCA2-related blepharophimosis-intellectual disability syndrome" "Abnormality of tear production" + "blood serum protein Red amount" "T-cell childhood lymphoblastic lymphoma" "T lymphoblastic lymphoma" "childhood precursor T-lymphoblastic lymphoma" "childhood T lymphoblastic lymphoma" - "blood serum protein Red amount" "greasy cutworm moth" "Agrotis ipsolon" "dark sword grass moth" @@ -105230,13 +105234,13 @@ "Salmonella thompson" "blood serum thioredoxin domain-containing protein 5 amount" "blood serum Ras-related protein Rab-7a amount" - "ureter schwannoma" "neurilemmoma of the ureter" "neurilemmoma of ureter" "ureteral neurilemmoma" "ureteral schwannoma" "ureter neurilemmoma" "schwannoma of the ureter" + "ureter schwannoma" "hypermethioninemia due to glycine N-methyltransferase deficiency" "GNMT deficiency" "Glycine N-methyltransferase deficiency" @@ -105384,12 +105388,12 @@ "Takao syndrome" "Shprintzen syndrome" "catch 22" + "Deletion 18q" + "18q- syndrome" "dendritic epidermal T-lymphocyte" "dendritic epidermal T-cell" "dendritic epidermal T lymphocyte" "DETC" - "Deletion 18q" - "18q- syndrome" "blood serum RING-type E3 ubiquitin-protein ligase PPIL2 amount" "Bacillus cereus strain G9842" "Bacillus cereus str. G9842" @@ -105563,10 +105567,16 @@ "2-methyl-3-hydroxybutyric aciduria" "MHBD deficiency" "HSD10 deficiency" + "MGA2" + "3-methylglutaconic aciduria type 2" + "Cardioskeletal myopathy with neutropenia and abnormal mitochondria" + "X-linked cardioskeletal myopathy and neutropenia" + "BTHS" + "Cardioskeletal myopathy-neutropenia" "Karpas 620" "KARPAS-620" - "blood serum actin-related protein 2/3 complex subunit 3 amount" "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 amount" + "blood serum actin-related protein 2/3 complex subunit 3 amount" "level of PI(18:0_18:1) in blood serum" "blood serum PI(18:0_18:1) amount" "Trichostrongylus infectious disease" @@ -105582,12 +105592,6 @@ "coho salmon" "Oncorhynchus kisutch (Walbaum, 1792)" "Oncorhyncus kisutch" - "MGA2" - "3-methylglutaconic aciduria type 2" - "Cardioskeletal myopathy with neutropenia and abnormal mitochondria" - "X-linked cardioskeletal myopathy and neutropenia" - "BTHS" - "Cardioskeletal myopathy-neutropenia" "blood serum chymotrypsin-C amount" "Timothy syndrome type 1 (disorder)" "blood serum phospholipid scramblase 3 amount" @@ -105962,13 +105966,13 @@ "medulla spinalis" "blood serum syntaxin-8 amount" "SPGF46" - "body of uterus primitive neuroectodermal tumor" "malignant peripheral neuroectodermal tumor of the corpus uteri" "malignant peripheral neuroectodermal tumour of the corpus uteri" "body of uterus primitive neuroectodermal tumour" "primitive neuroectodermal tumour of body of uterus" "peripheral neuroectodermal cancer of the corpus uteri" "primitive neuroectodermal tumor of body of uterus" + "body of uterus primitive neuroectodermal tumor" "gastric (stomach) squamous cell cancer" "stomach squamous cell carcinoma" "gastric squamous cell carcinoma" @@ -106161,10 +106165,6 @@ "Dwarfism, Pituitary" "Lorain - Levi dwarfism" "neuroblastic tumor" - "Glycogenosis due to LAMP-2 deficiency" - "Lysosomal glycogen storage disease with normal acid maltase activity" - "Danon disease" - "GSD due to LAMP-2 deficiency" "blood serum alpha-galactosidase A amount" "Crohn's disease of colon" "Crohn's disease of large bowel" @@ -106187,6 +106187,10 @@ "Enteritis, Granulomatous" "Crohn's associated gastritis" "Ileitis, Regional" + "Glycogenosis due to LAMP-2 deficiency" + "Lysosomal glycogen storage disease with normal acid maltase activity" + "Danon disease" + "GSD due to LAMP-2 deficiency" "Diabetic Foot Ulcer" "Diabetic Feet" "memory IgM B cell" @@ -106934,12 +106938,12 @@ "up regulation of sensory perception of pain" "phenols" "Lubani-Al Saleh-Teebi syndrome" - "TAG 58:10" "chlamydia pneumonia" "Chlamydia pneumonia" "chlamydial pneumonia" "Chlamydia caused pneumonia" "viral pericarditis" + "TAG 58:10" "blood serum actin-related protein 2/3 complex subunit 5 amount" "blood serum Phosphatidylinositol (18:0_18:2) amount" "Trichuriasis (disorder)" @@ -107034,11 +107038,11 @@ "Erucic acid" "lung aspergillosis" "pulmonary aspergilloma" - "SCAR3" "pediatric medulloblastoma" "medulloblastoma of childhood" "paediatric medulloblastoma" "childhood medulloblastoma" + "SCAR3" "SK4" "SK-GT-4" "blood serum campesterol 3-beta-D-glucoside amount" @@ -107204,9 +107208,9 @@ "Tietz syndrome" "albinism-deafness of Tietz" "thecal cell layers" + "blood serum phospholipid transfer protein amount" "oxygen tension" "PaO2" - "blood serum phospholipid transfer protein amount" "inflammation of larynx" "laryngeal Inflammation" "laryngeal inflammation" @@ -107451,9 +107455,9 @@ "ductal carcinoma in situ of the breast with cribriform pattern" "non-infiltrating cribriform ductal breast carcinoma" "non-invasive cribriform ductal breast carcinoma" - "nasopharyngeal squamous cell carcinoma" "Mirror foot, unilateral" "Mesoaxial polydactyly of toes, unilateral" + "nasopharyngeal squamous cell carcinoma" "Pseudotumor cerebri" "benign intracranial hypertension (disorder)" "benign intracranial hypertension" @@ -107553,13 +107557,13 @@ "bladder signet ring cell adenocarcinoma" "urinary bladder signet Ring adenocarcinoma" "urinary bladder signet ring cell carcinoma" - "Cystic medial necrosis of aorta" - "Annuloaortic ectasia" - "Erdheim disease" "PTEN malignant glioma" "malignant glioma caused by mutation in PTEN" "glioma susceptibility 2" "glioma susceptibility type 2" + "Cystic medial necrosis of aorta" + "Annuloaortic ectasia" + "Erdheim disease" "spermatogenic failure 51" "SPGF51" "PMLD1" @@ -107960,8 +107964,8 @@ "CHITD" "blood serum RING finger protein 141 amount" "green mud crab" - "8988 T" "PA-TU-8988T" + "8988 T" "ACC 162" "8988-T" "rapid ejaculation" @@ -107991,8 +107995,8 @@ "neoplasm of the thorax" "tumour of the thorax" "thoracic neoplasm" - "tumor of thorax" "thoracic segment of trunk tumour" + "tumor of thorax" "thoracic tumour" "Juvenile GM2 gangliosidosis 0 variant" "Hexosaminidases A and B deficiency, juvenile form" @@ -108866,6 +108870,7 @@ "sn-Glycerol 3-phosphate" "sn-glycerol 3-(dihydrogen phosphate)" "(2R)-2,3-dihydroxypropyl dihydrogen phosphate" + "CBC with Diff" "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum" "HSP-TCC" "SPG11 hereditary spastic paraplegia" @@ -108877,7 +108882,6 @@ "hereditary spastic paraplegia type 11" "autosomal recessive spastic paraplegia complicated with thin corpus callosum" "autosomal recessive spastic paraplegia type 11" - "CBC with Diff" "blood serum MIT domain-containing protein 1 amount" "eastern oyster" "Crassotrea virginica" @@ -109208,11 +109212,11 @@ "neurodegeneration with brain iron accumulation type 1, classic form" "NBIA1, classic form" "PKAN, classic form" + "BaP" "laryngeal adenoid cystic carcinoma" "adenoid cystic carcinoma of the larynx" "laryngeal throat adenoid cystic cancer" "adenoid cystic carcinoma of larynx" - "BaP" "DMS-79" "melanocytic neoplasm" "blood serum protein phosphatase 1 regulatory subunit 3G amount" @@ -109236,6 +109240,13 @@ "neck tumor" "tumor of neck" "neck neoplasm (disease)" + "BASD2" + "congenital bile acid synthesis defect type 2" + "AKR1D1 congenital bile acid synthesis defect" + "CBAS2" + "bile acid synthesis defect, congenital, type 2" + "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" + "congenital bile acid synthesis defect caused by mutation in AKR1D1" "ileum tumor" "neoplasm of ileum" "tumor of the ileum" @@ -109249,13 +109260,6 @@ "ileal tumour" "tumour of the ileum" "ileum neoplasm (disease)" - "BASD2" - "congenital bile acid synthesis defect type 2" - "AKR1D1 congenital bile acid synthesis defect" - "CBAS2" - "bile acid synthesis defect, congenital, type 2" - "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" - "congenital bile acid synthesis defect caused by mutation in AKR1D1" "blood serum lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial amount" "muscular dystrophy Congenital, LMNA-related" "congenital muscular dystrophy LMNA-related" @@ -109862,9 +109866,9 @@ "vitamin D dependent rickets 2" "vitamin D-resistant rickets type II" "Staphylococcus mutans" + "neuralgia" "thyroid gland oncocytic adenoma" "benign oncocytoma of the thyroid" - "neuralgia" "global developmental delay, lung cysts, overgrowth, and wilms tumor" "glow syndrome" "GLOW syndrome, somatic mosaic" @@ -110382,13 +110386,13 @@ "Narcoleptic Syndrome" "Syndromes, Narcoleptic" "Gelineau's Syndromes" + "XPA" "Bromus inermis Leyss." "Bromopsis inermis" "Hungarian brome grass" "Bromopsis inermis (Leyss.) Holub" "awnless brome grass" "smooth brome grass" - "XPA" "blood serum microphthalmia-associated transcription factor amount" "thiamine-responsive dysfunction syndrome" "hyperhomocysteinemia" @@ -110799,8 +110803,8 @@ "Tropical spastic paralysis" "blood serum progonadoliberin-2 amount" "blood serum tether containing UBX domain for GLUT4 amount" - "blood serum transcription cofactor vestigial-like protein 4 amount" "blood serum nucleolysin TIAR amount" + "blood serum transcription cofactor vestigial-like protein 4 amount" "cornea epidermoid carcinoma" "corneal squamous cell carcinoma" "epidermoid carcinoma of cornea" @@ -110941,9 +110945,9 @@ "blood serum acidic fibroblast growth factor intracellular-binding protein amount" "herniation of rectum into vagina" "female rectocele" - "hypoplastic amelogenesis imperfecta" "skeletal maturity" "bone age" + "hypoplastic amelogenesis imperfecta" "frontotemporal dementia with amyotrophic lateral sclerosis" "frontotemporal dementia with ALS" "FTD-MND" @@ -111138,9 +111142,9 @@ "multiple café-au-lait syndrome" "multiple cafe-au-lait spots" "anti-HEV antibody measurement" + "Abnormality of serine family amino acid metabolism" "blood serum NudC domain-containing protein 2 amount" "blood serum small ribosomal subunit protein eS19 amount" - "Abnormality of serine family amino acid metabolism" "neoplasm of endocardium" "endocardium tumor" "tumor of endocardium" @@ -111358,9 +111362,9 @@ "area 46 of Brodmann-1909" "BA46" "B09-46" + "middle frontal area 46" "area 46 of Brodmann" "Brodmann area 46" - "middle frontal area 46" "Brodmann (1909) area 46" "TPHA" "Warts-infections-leukopenia-myelokatexis" @@ -111646,9 +111650,9 @@ "vascular tissue tumor" "tumour of vascular tissue" "tumor of vascular tissue" - "vascular system tumor" "vascular system neoplasm" "tumors, vascular" + "vascular system tumor" "vascular neoplasm" "vascular tissue neoplasm" "acheiropodia" @@ -111685,13 +111689,13 @@ "Cercocebus torquatus atys" "PLSIMCE" "Immature Plasma Cells" - "KTZSL" "splenomegaly-neutropenia-rheumatoid arthritis syndrome" "Felty Syndrome" "Felty syndrome" "Felty's syndrome" "rheumatoid arthritis with splenoadenomegaly and leukopenia" "Rheumatoid arthritis with splenoadenomegaly and leukopenia" + "KTZSL" "Richner-Hanhart syndrome" "tyrosinemia due to TAT deficiency" "tyrosinemia due to tyrosine aminotransferase deficiency" @@ -112061,8 +112065,8 @@ "malignant thoracic segment of trunk neoplasm" "malignant neoplasm of thorax" "malignant thoracic tumor" - "malignant tumour of thorax" "malignant neoplasm of thoracic segment of trunk" + "malignant tumour of thorax" "thorax cancer" "malignant tumor of thorax" "malignant tumor of the thorax" @@ -112096,10 +112100,10 @@ "cancer of the extragonadal non-seminomatous germ cell" "malignant neoplasm of extragonadal non-seminomatous germ cell" "malignant tumour of extragonadal non-seminomatous germ cell" - "malignant extragonadal non-seminomatous germ cell tumour" "malignant tumor of extragonadal non-seminomatous germ cell" - "extragonadal non-seminomatous germ cell cancer" + "malignant extragonadal non-seminomatous germ cell tumour" "malignant extragonadal non-seminomatous germ cell tumor" + "extragonadal non-seminomatous germ cell cancer" "malignant extragonadal non-seminomatous germ cell neoplasm" "malignant tumour of the extragonadal non-seminomatous germ cell" "malignant tumor of the extragonadal non-seminomatous germ cell" @@ -112220,9 +112224,9 @@ "Gaucher disease type 3C" "Cardiovascular Gaucher disease" "Gaucher-like disease" - "brachial plexus neuropathy" "brachial plexus disorder" "brachial nerve plexus peripheral neuropathy" + "brachial plexus neuropathy" "brachial plexopathy" "Brachial plexus disorder" "Brachial Plexus Neuropathies" @@ -112519,6 +112523,12 @@ "Bacillus subtilis subsp. subtilis 168" "Humero-radial fusion" "ml/l" + "ventral midline glia" + "midline glia" + "MGM" + "anterior midline glia" + "AMG" + "MGA" "malignant tumor of the germ cell" "malignant germ cell neoplasm" "malignant tumour of the germ cell" @@ -112530,12 +112540,6 @@ "germ cell cancer" "germ cell tumor, malignant" "malignant tumor of germ cell" - "ventral midline glia" - "midline glia" - "MGM" - "anterior midline glia" - "AMG" - "MGA" "glycogenosis type 15" "glycogen storage disease type XV" "glycogenosis type XV" @@ -112656,8 +112660,8 @@ "tumor of the epicardium" "epicardial tumor" "epicardial neoplasm" - "neoplasm of epicardium" "epicardium tumor" + "neoplasm of epicardium" "epicardium neoplasm" "tumor of epicardium" "epicardial tumour" @@ -112672,13 +112676,13 @@ "endocardium disease or disorder" "blood serum meteorin-like protein amount" "EN-RAGE" - "Ovalocytes" - "OVALCY" "spleen prolymphocytic leukemia" "prolymphocytic leukemia of spleen" "spleen prolymphocytic leukaemia" "prolymphocytic leukaemia of spleen" "splenic manifestation of prolymphocytic leukemia" + "Ovalocytes" + "OVALCY" "Homogentisic acid" "(2,5-dihydroxyphenyl)acetic acid" "Stevens-Johnson syndrome" @@ -112924,9 +112928,9 @@ "syndactyly of fingers 4 and 5" "SD3" "non-syndromic syndactyly caused by mutation in GJA1" - "blood serum protein lin-28 homolog B amount" "N-(3alpha,7alpha-dihydroxy-5beta-cholan-24-oyl)glycinate" "glycochenodeoxycholate" + "blood serum protein lin-28 homolog B amount" "blood serum EH domain-containing protein 3 amount" "injury to kidney" "blood serum Sterol ester (27:1/16:0) amount" @@ -113103,8 +113107,8 @@ "Ligase 4 syndrome" "rosette" "leaf whorl" - "aortic hemangiosarcoma" "hemangiosarcoma of aorta" + "aortic hemangiosarcoma" "aortic angiosarcoma" "angiosarcoma of the aorta" "hemangiosarcoma of the aorta" @@ -114121,8 +114125,8 @@ "Venereal Diseases, Bacterial" "bacterial sexually transmitted disease" "Bacterial Venereal Disease" - "Disease, Bacterial Venereal" "BACT SEX TRANSM DIS" + "Disease, Bacterial Venereal" "Diseases, Bacterial Venereal" "Sexually Transmitted Diseases, Bacterial" "Alagille-Watson syndrome" @@ -114503,11 +114507,11 @@ "pharyngeal squamous cell carcinoma" "pharyngeal squam. cell carcinoma" "blood serum endophilin-B1 amount" - "perinatal jaundice due to hepatocellular damage" "insulin secretion rate measurement" "group A streptococci" "Streptococcus sp. (group A)" "group A streptococcus" + "perinatal jaundice due to hepatocellular damage" "intellectual disability-loss of expressive language-facial dysmorphism syndrome" "SOFM" "tyrosinemia type III" @@ -114534,15 +114538,15 @@ "Harrod syndrome" "cranio-facio-digito-genital syndrome" "blood serum secretoglobin family 3A member 1 amount" + "partial monosomy of the short arm of chromosome 5" + "partial deletion of the short arm of chromosome type 5" + "partial deletion of chromosome 5p" + "partial monosomy of chromosome 5p" "sympathetic nervous system disease or disorder" "disease of sympathetic nervous system" "sympathetic nervous system disease" "disease or disorder of sympathetic nervous system" "disorder of sympathetic nervous system" - "partial monosomy of the short arm of chromosome 5" - "partial deletion of the short arm of chromosome type 5" - "partial deletion of chromosome 5p" - "partial monosomy of chromosome 5p" "blood serum NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 amount" "HSAN3" "Hereditary sensory and autonomic neuropathy type 3" @@ -114562,17 +114566,17 @@ "blood serum interleukin-1 alpha amount" "Synspondylism" "blood Thr-Phe amount" + "AML, Monosomy 5" "Müllerian duct failure" "Aplasia of the Müllerian ducts" - "AML, Monosomy 5" - "LPE 18:0" - "blood serum epididymal secretory protein E3-beta amount" "adult Bartter syndrome" "BARTS3" "classic Bartter syndrome" "Bartter syndrome type 3" "Bartter syndrome type III" "Bartter disease type 3" + "LPE 18:0" + "blood serum epididymal secretory protein E3-beta amount" "susceptibility to varicella zoster virus infection measurement" "tibial longitudinal meromelia, bilateral" "achondroplasia-severe combined immunodeficiency syndrome" @@ -114791,13 +114795,13 @@ "pyropoikilocytosis" "pyropoikilocytosis, hereditary" "Alport deafness-nephropathy" - "adenoid cystic carcinoma of submandibular gland" - "adenoid cystic carcinoma of the submandibular gland" - "submandibular gland adenoid cystic carcinoma" "RP93" "retinitis pigmentosa 93" "field mustard" "Brassica rapa L." + "adenoid cystic carcinoma of submandibular gland" + "adenoid cystic carcinoma of the submandibular gland" + "submandibular gland adenoid cystic carcinoma" "ovarian clear cell malignant adenofibroma" "ovarian clear cell adenocarcinofibroma" "blood serum proteasome subunit alpha type-3 amount" @@ -114904,8 +114908,8 @@ "tumor of trophoblast" "trophoblastic tumor (qualifier value)" "trophoblastic tumor" - "trophoblast neoplasm" "trophoblastic neoplasm NOS (morphologic abnormality)" + "trophoblast neoplasm" "trophoblast neoplasm (disease)" "trophoblastic neoplasm (morphologic abnormality)" "trophoblast tumor" @@ -114992,8 +114996,8 @@ "haematopoietic tumour of central nervous system" "central nervous system haematopoietic neoplasms" "hematopoietic and lymphoid system neoplasm of central nervous system" - "hematopoietic neoplasm of the CNS" "central nervous system haematopoietic and lymphoid system neoplasm" + "hematopoietic neoplasm of the CNS" "hematopoietic neoplasm of central nervous system" "hematopoietic tumor of central nervous system" "hematopoietic neoplasm of the central nervous system" @@ -115024,13 +115028,13 @@ "keratoderma" "keratosis" "blood serum methyltransferase-like protein 11A amount" + "CASP8" "blood serum protein S100-A8 amount" "Precursor Plasma Cells" "Plasmablast" "PLSPCE" - "CASP8" - "non-infectious iridocyclitis" "Bacteroides gingivalis" + "non-infectious iridocyclitis" "ABOLM" "phosphatidylcholine 42:1" "blood serum interferon alpha-1/13 amount" @@ -115526,6 +115530,8 @@ "LIMD" "CNS development" "octadecanoate" + "Abnormal glucose-6-phosphate dehydrogenase level" + "Abnormal G6PD level" "Bacillus butyricus" "Bacillus amylobacter" "Amylobacter navicula" @@ -115534,8 +115540,6 @@ "Clostridium naviculum" "Bacterium navicula" "Clostridium pseudotetanicum" - "Abnormal glucose-6-phosphate dehydrogenase level" - "Abnormal G6PD level" "GM17800 cell" "Jankovic-Rivera syndrome" "adult foregut precursor" @@ -115860,10 +115864,10 @@ "Kleefstra syndrome due to del(9)(q34)" "9qSTDS" "Kleefstra syndrome due to monosomy 9q34" + "N(5)-(N,N'-dimethylcarbamimidoyl)-L-ornithine" "HSV encephalitis" "Herpes simplex neuroinvasion" "Herpes simplex encephalitis" - "N(5)-(N,N'-dimethylcarbamimidoyl)-L-ornithine" "blood serum coenzyme Q-binding protein COQ10 homolog A, mitochondrial amount" "Young-Hugues syndrome" "GM17203 cell" @@ -115927,11 +115931,11 @@ "Macrogyria" "Cerebral pachygyria" "LGMD1D" + "primary diffuse large B-cell gastric lymphoma" "primary diffuse large B-cell lymphoma of the stomach" "primary gastric diffuse large B-cell lymphoma" "gastric diffuse large B-cell lymphoma" "primary diffuse large B-cell lymphoma of stomach" - "primary diffuse large B-cell gastric lymphoma" "Meige syndrome" "Meige dystonia" "Meige Syndrome" @@ -116108,8 +116112,8 @@ "autoimmune haemolytic anemia" "MPPH syndrome" "Brainstem infarction NOS" - "brain stem infarction" "Brainstem infarction NOS (disorder)" + "brain stem infarction" "brain stem infarction (disorder)" "brainstem infarction" "brain infarction of brainstem" @@ -116174,12 +116178,12 @@ "secondary erythrocytosis" "secondary polycythemia" "meningitis caused by human poliovirus" - "PLPM" "Vigna unguiculata subsp. unguiculata Unguiculata Group" "Vigna unguiculata subsp. unguiculata (Unguiculata Group)" "Vigna sinensis" "Vigna unguiculata Unguiculata Group" "cowpea" + "PLPM" "blood serum X antigen family member 2 amount" "Swelling of ureter" "Dilated ureter" @@ -116273,9 +116277,9 @@ "blood serum BTB/POZ domain-containing protein KCTD1 amount" "Tsukahara syndrome" "Giuffré-Tsukahara syndrome" - "Hemifacial hyperplasia - strabismus" "Drash syndrome" "Wilms tumor and pseudohermaphroditism" + "Hemifacial hyperplasia - strabismus" "Variegate porphyria" "Protoporphyrinogen oxidase deficiency" "syndactyly type 9" @@ -116567,10 +116571,10 @@ "giant cell tumour NOS (morphologic abnormality)" "giant cell tumor NOS (morphologic abnormality)" "GM17267 cell" - "1,2-dibromoethane" - "1,2-Dibromoethane" "blood serum serum paraoxonase/arylesterase 1 amount" "blood serum phosphatidylcholine-sterol acyltransferase amount" + "1,2-dibromoethane" + "1,2-Dibromoethane" "malignant reproductive organ neoplasm" "malignant neoplasm of reproductive system" "malignant neoplasm of reproductive organ" @@ -116668,8 +116672,8 @@ "iPSC" "TPP" "X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features" - "Inherited macrothrombocytopenia" "tacrolimus hydrate measurement" + "Inherited macrothrombocytopenia" "disorder of the autonomic nervous system" "autonomic nervous system disease" "autonomic nervous system disorder" @@ -116688,8 +116692,8 @@ "Global run-on sequencing" "Genomic run-on sequencing" "guttate psoriasis" - "CSF clusterin measurement" "GM17801 cell" + "CSF clusterin measurement" "blood serum high mobility group protein B3 amount" "disease or disorder of ventral horn of spinal cord" "disease of ventral horn of spinal cord" @@ -116905,6 +116909,10 @@ "tracheitis" "Tracheitis" "tracheal Inflammation" + "middle Ear polyp" + "polyp of the middle ear" + "middle ear polyp" + "polyp - middle ear" "Fukuyama Type Congenital Muscular Dystrophy" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" "Fukuyama congenital muscular dystrophy" @@ -116913,10 +116921,6 @@ "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4" "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related" "muscle-eye-brain-FKTN related" - "middle Ear polyp" - "polyp of the middle ear" - "middle ear polyp" - "polyp - middle ear" "blood serum pancreatic lipase-related protein 2 amount" "angiosarcoma of the gallbladder" "hemangiosarcoma of gallbladder" @@ -117169,15 +117173,15 @@ "taurocyamine phosphate, N(omega)-phosphotaurocyamine" "Avulavirus infectious disease" "Avulavirus Infections" - "Recurrent infections-bone marrow fibrosis-nephromegaly syndrome" - "Congenital neutropenia-myelofibrosis-nephromegaly syndrome" - "Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" "ES" "epithelioid cell sarcoma" "epithelioid sarcoma" "Blepharophimosis-intellectual disability syndrome type V" "BMRS, Verloes type" "BMRS type V" + "Recurrent infections-bone marrow fibrosis-nephromegaly syndrome" + "Congenital neutropenia-myelofibrosis-nephromegaly syndrome" + "Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" "blood serum transcription factor MafG amount" "blood serum ephrin type-A receptor 8 amount" "protoporphyria, erythropoietic, 2" @@ -117355,11 +117359,11 @@ "neuroendocrine tumour of the prostate" "prostate gland neuroendocrine neoplasm" "prostate neuroendocrine neoplasm" + "genetic lethal multiple congenital anomalies/dysmorphic syndrome" "Salicylic acid" "2-hydroxybenzoic acid" "Dykes-Marks-Harper syndrome" "Dykes-Markes-Harper syndrome" - "genetic lethal multiple congenital anomalies/dysmorphic syndrome" "10x 3' v4 sequencing" "10X 3' v4 sequencing" "10X 3' v4" @@ -117479,12 +117483,12 @@ "blepharophimosis-epicanthus inversus-ptosis due to a CNV" "blepharophimosis types 1 and 2 due to copy number variations" "Upshaw-Schulman syndrome" - "blood serum Bcl-2-modifying factor amount" "PLAN" "INAD" "INAD1" "Phospholipase A2-associated neurodegeneration" "Seitelberger disease" + "blood serum Bcl-2-modifying factor amount" "quantseq" "quant-seq" "QuantSeq" @@ -117509,12 +117513,12 @@ "glucocorticoid therapy, response to" "Delta granule disease" "secondary hypertension" + "disorder of aortic valve" "aortic valve disease or disorder" "aortic valve disorder" "disease of aortic valve" "aortic valve disease" "disease or disorder of aortic valve" - "disorder of aortic valve" "Lowry syndrome" "Kimura's disorder" "Kimura disease" @@ -117536,12 +117540,12 @@ "lipoma of large bowel" "lipoma of the large intestine" "Carnevale-Hernández-del Castillo syndrome" - "Asn HyPh" "LGMD2Q" "muscular dystrophy, limb-girdle, type 2Q" "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" "muscular dystrophy, limb-girdle, autosomal recessive 17" "blood serum potassium channel regulatory protein amount" + "Asn HyPh" "blood serum lithostathine-1-alpha amount" "HLD22" "Galactose Mutarotase Deficiency" @@ -118305,8 +118309,8 @@ "early onset hypertension" "hereditary sensory and autonomic neuropathy, autosomal dominant" "blood serum adhesion G protein-coupled receptor B1 amount" - "macrodactyly of hand, bilateral" "OODD" + "macrodactyly of hand, bilateral" "blood serum E3 ubiquitin-protein ligase TRIM21 amount" "tuberculosis disease" "blood serum amyloid beta precursor like protein 1 amount" @@ -118587,7 +118591,6 @@ "mixed germ cell-Sex cord-stromal tumor" "mixed germ cell-sex cord-stromal tumour (morphologic abnormality)" "blood serum nociceptin amount" - "Reardon-Hall-Slaney syndrome" "Abnormal liver function tests" "High liver enzymes" "Abnormal liver enzymes" @@ -118601,6 +118604,7 @@ "Elevated transaminases" "Raised liver enzymes" "Elevated circulating hepatic transaminase activity" + "Reardon-Hall-Slaney syndrome" "benign tumor of retina" "benign retinal tumour" "benign tumour of retina" @@ -118748,23 +118752,23 @@ "Itchy skin" "Itching" "Skin itching" - "Tetralogy of Fallot with absent pulmonary valve syndrome" "Bm5 B-lymphocyte" "Bm5 B-cell" "Bm5 B lymphocyte" + "Tetralogy of Fallot with absent pulmonary valve syndrome" "blood serum putative protein-lysine deacylase ABHD14B amount" "GEXSCOPE" "synovial sarcoma, biphasic" "synovial sarcoma, biphasic (morphologic abnormality)" "biphasic sarcoma of synovium" "biphasic sarcoma of the synovium" + "presumptive epidermis" "pulmonary diffusing capacity" "carbon monoxide diffusing capacity" "transfer factor of the lung for carbon monoxide" - "presumptive epidermis" "CFS" - "myalgic encephalitis" "myalgic encephalomeyelitis/chronic fatigue syndrome" + "myalgic encephalitis" "myalgic encephalomyelitis" "Myalgic Encephalomyelitis" "systemic exertion intolerance disease" @@ -118821,6 +118825,7 @@ "blood serum adhesion G protein-coupled receptor B3 amount" "leg dermatosis" "blood serum gastric inhibitory polypeptide amount" + "blood serum procollagen C-endopeptidase enhancer 2 amount" "hemangioma of intracranial structures" "intracranial hemangioma" "intracranial angioma" @@ -118829,7 +118834,6 @@ "angioma of the intracranial structure" "angioma of intracranial structure" "hemangioma of brain" - "blood serum procollagen C-endopeptidase enhancer 2 amount" "mucinous cystadenofibroma" "blood serum BTB/POZ domain-containing protein KCTD3 amount" "CHANDS" @@ -118880,10 +118884,10 @@ "indole-3-carboxylic acid" "infection by Pasteurella multocida" "blood serum lithostathine-1-beta amount" + "Passwell-Goodman-Siprkowski syndrome" "10x 5' v3 sequencing" "10X 5' v3 sequencing" "10X 5' v3" - "Passwell-Goodman-Siprkowski syndrome" "BTHS" "3-Methylglutaconicaciduria type 2" "MGA type 2" @@ -118896,7 +118900,6 @@ "X-linked cardioskeletal myopathy and neutropenia" "cardioskeletal myopathy-neutropenia syndrome" "MGA type II" - "spastic paraplegia, intellectual disability, nystagmus, and obesity" "MITOCHONDRIAL ELECTRON TRANSPORT CHAIN DEFIC" "mitochondrial disease/disorder" "hyperglycaemia" @@ -118923,6 +118926,7 @@ "Mitochondrial Diseases" "Deficiencies, Oxidative Phosphorylation" "Respiratory Chain Deficiency" + "spastic paraplegia, intellectual disability, nystagmus, and obesity" "FH" "acute secretory otitis media" "non-suppurative otitis media, acute" @@ -119033,10 +119037,10 @@ "multiple eruptive juvenile xanthogranuloma" "Naevoxanthoendothelioma" "JXG" + "LyH49H-positive" "129 Sv/Ev" "129/SvEv" "129S6/SvEv" - "LyH49H-positive" "familial lupus anticoagulant" "antiphospholipid syndrome" "antiphospholipid antibody syndrome" @@ -119052,9 +119056,9 @@ "lung cancer, protection against, autosomal dominant, somatic mutation" "malignant tumor of lung" "malignant tumour of lung" - "lung cancer" - "malignant lung tumor" "lung cancer, susceptibility to, autosomal dominant, somatic mutation" + "malignant lung tumor" + "lung cancer" "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation" "cancer of lung" "malignant neoplasm of the lung" @@ -119546,13 +119550,13 @@ "Cartilage disorder" "Chondropathy (disorder)" "Cartilage Diseases" + "macrodactyly, somatic, (3), cerebral cavernous malformations 4, somatic" + "Megalodactyly" "Desulfovibrio desulfuricans G20" "Desulfovibrio alaskensis str. G20" "Desulfovibrio desulfuricans str. G20" "Desulfovibrio alaskensis strain G20" "Desulfovibrio desulfuricans subsp. desulfuricans str. G20" - "macrodactyly, somatic, (3), cerebral cavernous malformations 4, somatic" - "Megalodactyly" "blood serum ceramide phosphoethanolamine amount" "blood serum nesprin-2 amount" "Bacterium tularense" @@ -119819,10 +119823,10 @@ "GILLESPIE syndrome" "aniridia, cerebellar ataxia, and intellectual disability" "aniridia, cerebellar ataxia, and mental retardation" - "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" "adult hemangiopericytoma, malignant" "hemangiopericytoma, malignant of adults" "malignant adult hemangiopericytoma" + "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" "GM17201 cell" "radiation-induced abnormalities" "radiation-induced disorder" @@ -120001,12 +120005,12 @@ "colonic mucosa" "animal breed" "CATSHL syndrome" - "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" - "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF" - "GDACCF" "RCB2639" "Nb2a" "N2A" + "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" + "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF" + "GDACCF" "tetrahydrobiopterin-responsive HPA/PKU" "BH4-responsive HPA/PKU" "BH4-responsive hyperphenylalaninemia/phenylketonuria" @@ -120114,8 +120118,8 @@ "mucinous adenofibroma of ovary" "blood serum BTB/POZ domain-containing protein KCTD5 amount" "blood serum regenerating islet-derived protein 3-alpha amount" - "Male infertility due to impaired sperm transport of genetic origin" "blood serum sulfotransferase 1E1 amount" + "Male infertility due to impaired sperm transport of genetic origin" "Mesomelic dwarfism, Langer type" "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" "intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome" @@ -120448,8 +120452,8 @@ "malignant hyperthermia susceptibility 1" "L-cysteine" "L-Cysteine" - "Impaired use of nonverbal behaviours" "Impaired use of nonverbal behaviours" + "Impaired use of nonverbal behaviours" "Abnormal nonverbal communicative behavior" "Impaired use of nonverbal behaviors" "Renal hypomagnesemia type 2" @@ -120490,12 +120494,12 @@ "N'-(aminosulfonyl)-3-[({2-[(diaminomethylidene)amino]-1,3-thiazol-4-yl}methyl)sulfanyl]propanimidamide" "dihydropyrimidinuria" "dihydropyrimidinase deficiency" + "Hypertensive Encephalopathy" + "hypertensive encephalopathy" "partial trisomy of the long arm of chromosome 10" "partial duplication of chromosome 10q" "partial trisomy of chromosome 10q" "mild peroxismal disorder due to PEX10 deficiency" - "Hypertensive Encephalopathy" - "hypertensive encephalopathy" "pterygium of conjunctiva and cornea" "pterygium" "surfer's eye" @@ -120505,7 +120509,6 @@ "lymphoma, plasmacytic" "lymphoplasmacytoid lymphoma" "lymphoma, lymphoplasmacytic, malignant" - "acquired hemoglobinopathy" "mandibular cancer" "malignant neoplasm of lower jaw bone" "malignant neoplasm of inferior maxilla" @@ -120513,6 +120516,7 @@ "cancer of mandible" "malignant neoplasm of mandible" "malignant mandible neoplasm" + "acquired hemoglobinopathy" "blood serum ubiquitin-conjugating enzyme E2 Q2 amount" "PCCA" "NK.49D-.Sp" @@ -120594,12 +120598,12 @@ "purine-nucleoside phosphorylase deficiency" "vascular insufficiency" "ATRUS syndrome" - "Syndromic microphthalmia type 10" - "MCOPS10" - "MOBA syndrome" "hepatic perisinusoidal cell" "Ito cell" "perisinusoidal cell" + "Syndromic microphthalmia type 10" + "MCOPS10" + "MOBA syndrome" "Streptomyces venezuelensis" "GM17794 cell" "gastroenteritis" @@ -121477,8 +121481,8 @@ "aortic valve calcification" "blood serum sex-determining region Y protein amount" "SADDAN" - "High Throughput Sequencing Kinetics" "Chromatin Immunoprecipitation" + "High Throughput Sequencing Kinetics" "bromo(chloro)acetic acid" "HMNDYT2" "SLC39A14 hypermanganesemia with dystonia" @@ -121671,9 +121675,9 @@ "HSH" "HOMG1" "Hypomagnesemia intestinal type 1" + "PHSH" "Intestinal hypomagnesemia with secondary hypocalcemia" "Hypomagnesemia caused by selective magnesium malabsorption" - "PHSH" "Prolonged bleeding time" "Increased bleeding time" "disease or disorder of adenohypophysis" @@ -122810,13 +122814,13 @@ "PRX Charcot-Marie-Tooth disease type 4" "Charcot-Marie-Tooth disease type 4 caused by mutation in Prx" "Charcot-Marie-Tooth disease type 4 caused by mutation in PRX" + "neutropenia, severe congenital, X-linked, X-linked recessive" + "severe congenital neutropenia, X-linked" + "X-linked severe congenital neutropenia" "laryngeal sarcoma" "larynx sarcoma" "sarcoma of the larynx" "sarcoma of larynx" - "neutropenia, severe congenital, X-linked, X-linked recessive" - "severe congenital neutropenia, X-linked" - "X-linked severe congenital neutropenia" "(2E)-3-carboxyprop-2-enoate" "Low parathyroid hormone" "Decreased parathyroid hormone secretion" @@ -122851,9 +122855,9 @@ "Anterior compartment syndrome" "anterior compartment syndrome" "Anterior Compartment Syndrome" - "porencephaly-microcephaly-bilateral congenital cataract syndrome" "Episodic choreoathetosis/spasticity" "DYT9" + "porencephaly-microcephaly-bilateral congenital cataract syndrome" "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome" "Enlarged liver and spleen" "paediatric central nervous system endodermal sinus neoplasm" @@ -123047,6 +123051,9 @@ "Primary Craniosynostosis" "blood serum N-sulphoglucosamine sulphohydrolase amount" "Oci-Ly-3 cell" + "familial CD8 deficiency" + "susceptibility to respiratory infections associated with CD8alpha chain mutation" + "pharyngeal pouches 3" "intervertebral disc degenerative disorder of cervical region of vertebral column" "degeneration of cervical intervertebral disc" "cervical region of vertebral column intervertebral disk degenerative disorder" @@ -123057,9 +123064,6 @@ "cervical Disc degenerative disease" "degeneration of cervical intervertebral disk" "cervical Disc degenerative disorder" - "familial CD8 deficiency" - "susceptibility to respiratory infections associated with CD8alpha chain mutation" - "pharyngeal pouches 3" "ankyloglossia" "FUSED to floor of mouth" "tongue-tie" @@ -123373,11 +123377,11 @@ "autosomal recessive complicated spastic paraplegia" "autosomal recessive complex HSP" "autosomal recessive complex SPG" + "T cell of small intestine Peyer's patch" + "T cell of Peyer's patch of small intestine" "ZARD" "ZC4H2-associated rare disorders" "ZC4H2-associated disorder" - "T cell of small intestine Peyer's patch" - "T cell of Peyer's patch of small intestine" "skin infection" "Kabuki make up syndrome" "KMS" @@ -123388,9 +123392,6 @@ "skin of eyelid cancer" "cancer of skin of eyelid" "malignant neoplasm of skin of eyelid" - "DEE100" - "developmental and epileptic encephalopathy 100" - "4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride" "neoplasm of the paraganglion" "paraganglion tumour" "paraganglioma" @@ -123405,6 +123406,9 @@ "tumor of the paraganglion" "tumour of paraganglion" "paraganglion neoplasm" + "DEE100" + "developmental and epileptic encephalopathy 100" + "4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride" "thoracic aortic raised lesions" "acquired hemangioma" "Absent/underdeveloped tailbone" @@ -123716,8 +123720,8 @@ "Aristolochia fimbriata Cham." "wooly hair, autosomal dominant" "woolly hair, autosomal dominant" - "blood serum putative melanoma-associated antigen 5P amount" "HbSE disease" + "blood serum putative melanoma-associated antigen 5P amount" "blood serum fumarate hydratase, mitochondrial amount" "enuresis" "blood serum POTE ankyrin domain family member G amount" @@ -124199,9 +124203,9 @@ "pituitary gland disease" "pituitary gland disease or disorder" "disease or disorder of pituitary gland" + "Genetic anterior horn cell disease" "initial segment of nerve" "radix nervi" - "Genetic anterior horn cell disease" "hereditary spastic paraplegia caused by mutation in SPAST" "hereditary spastic paraplegia 4" "autosomal dominant spastic paraplegia type 4" @@ -124227,8 +124231,8 @@ "chondrosarcoma (disease) of periosteum" "periosteum chondrosarcoma (disease)" "juxtacortical chondrosarcoma" - "blood serum microtubule nucleation factor SSNA1 amount" "CMT2A1" + "blood serum microtubule nucleation factor SSNA1 amount" "craniotelencephalic dysplasia" "blood serum motor neuron and pancreas homeobox protein 1 amount" "Charcot-Marie-Tooth neuropathy type 2T" @@ -124256,6 +124260,8 @@ "inflammatory disorder of bone" "bone inflammatory disease" "pharyngeal pouches 6" + "Congenital stationary night blindness, Oguchi type" + "Oguchi syndrome" "Guillain-Barre syndrome, familial" "CIDP" "AIDP" @@ -124263,8 +124269,6 @@ "polyneuropathy, inflammatory demyelinating, acute" "neuropathy, inflammatory demyelinating" "chronic inflammatory demyelinating polyradiculoneuropathy" - "Congenital stationary night blindness, Oguchi type" - "Oguchi syndrome" "blood serum endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase amount" "eye infections" "ocular infection" @@ -124338,11 +124342,11 @@ "sarcomatoid transitional cell carcinoma" "Occipital region" "Occipital cortex" - "ethmoid sinus adenoid cystic carcinoma" - "adenoid cystic carcinoma of the ethmoid sinus" "Liddle syndrome" "pseudoaldosteronism" "Liddle's syndrome" + "ethmoid sinus adenoid cystic carcinoma" + "adenoid cystic carcinoma of the ethmoid sinus" "2-(N(omega)-L-arginino)butanedioic acid" "vitamin B9 intake measurement" "blood serum peroxisomal coenzyme A diphosphatase NUDT7 amount" @@ -124493,8 +124497,8 @@ "VMC" "mesenchymal hamartoma of the liver" "MHL" - "liver MH" "Von Meyenburg complexes disease" + "liver MH" "g/L" "connatal PMD" "Pelizaeus-Merzbacher disease type II" @@ -124715,11 +124719,11 @@ "Pectobacterium disease or disorder" "Erwinia carotovora infection" "Pectobacterium caused disease or disorder" + "AG10941 cell" "eosinophilic gastroenteritis" "eosinophilic enteritis" "EGE" "eosinophilic gastroenterocolitis" - "AG10941 cell" "GM09585 cell" "Intrauterine death" "Death before birth" @@ -124853,6 +124857,7 @@ "familial aneurysmal subarachnoid haemorrhage" "familial berry aneurysm" "blood serum Ras-related protein Rab-14 amount" + "N-Acetyl-L-tyrosine measurement" "malignant melanoma of cornea" "melanoma of the cornea" "cornea melanoma (disease)" @@ -124863,7 +124868,6 @@ "cornea melanoma" "corneal melanoma" "melanoma of cornea" - "N-Acetyl-L-tyrosine measurement" "phosphatidylcholine 32:0" "culture supernatant" "Cardiac leiomyosarcoma" @@ -124872,13 +124876,13 @@ "heart leiomyosarcoma" "Leukotriene C4 synthase deficiency" "LTC4 synthase deficiency" - "ALS26" "Morvan's fibrillary chorea" "MFC" "Morvan's syndrome" "Morvan syndrome" "MoS" "limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome" + "ALS26" "combined immunodeficiency due to LRBA deficiency" "CID due to LRBA deficiency" "skin diseases, fungal" @@ -124972,13 +124976,13 @@ "X-linked ataxia-dementia syndrome" "spinocerebellar ataxia, X-linked type 4" "SCAX4" - "GM2-gangliosidosis, B, B1 variant" - "Hexosaminidase A deficiency" "Seckel syndrome type 8" "DNA2 Seckel syndrome" "Seckel syndrome 8" "SCKL8" "Seckel syndrome caused by mutation in DNA2" + "GM2-gangliosidosis, B, B1 variant" + "Hexosaminidase A deficiency" "distal HMN V" "distal hereditary motor neuropathy type V" "distal spinal muscular atrophy type 5" @@ -125075,18 +125079,18 @@ "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome" "Fibrofolliculomas" "blood serum heat shock 70 kDa protein 13 amount" - "nicotinic acetylcholine-activated cation-selective channel activity" - "acetylcholine-gated cation channel activity" - "nAChR" - "acetylcholine-activated cation-selective channel activity" - "ionotropic acetylcholine receptor activity" - "nicotinergic acetylcholine receptor activity" "southern house mosquito" "Culex quinquifasciatus" "Culex quinquifasiatus" "Culex pipiens quiquefasciatus" "Culex pipiens quinquefasciatus" "Culex quiquefasciatus" + "nicotinic acetylcholine-activated cation-selective channel activity" + "acetylcholine-gated cation channel activity" + "nAChR" + "acetylcholine-activated cation-selective channel activity" + "ionotropic acetylcholine receptor activity" + "nicotinergic acetylcholine receptor activity" "HMC18" "alcohol withdrawal syndrome" "alcohol withdrawal" @@ -125694,8 +125698,6 @@ "blood serum major prion protein amount" "Curatolo-Cilio-Pessagno syndrome" "visceral myopathy-familial external ophthalmoplegia syndrome" - "hepatitis B virus-related hepatocellular carcinoma" - "hepatitis B virus related hepatocellular carcinoma" "Peritonsillar Abscess" "Peritonsillar abscess" "peritonsillar abscess" @@ -125706,6 +125708,8 @@ "telencephalon septum" "septum (NN)" "septal area" + "hepatitis B virus-related hepatocellular carcinoma" + "hepatitis B virus related hepatocellular carcinoma" "Schinzel Giedion Syndrome" "Schinzel-Giedion syndrome" "SGS" @@ -126171,8 +126175,6 @@ "Klippel-Feil Sequence" "blood serum acyl-CoA-binding domain-containing protein 4 amount" "Hamon Cancer Center 2429" - "OPSD" - "OPD spectrum disorder" "neoplasm of the cerebrum" "tumour of telencephalon" "tumour of cerebral hemispheres" @@ -126204,6 +126206,8 @@ "cerebral neoplasms" "cerebral tumour" "neoplasm of cerebral hemisphere" + "OPSD" + "OPD spectrum disorder" "inflammation of brain" "brain inflammation" "tattoo dysplasia" @@ -127089,12 +127093,12 @@ "autosomal recessive intermediate Charcot-Marie-Tooth disease" "RI-CMT" "intermediate Charcot-Marie-Tooth disease, autosomal recessive" + "N-{[(3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-yl]carbonyl}-L-phenylalanine" + "Ochratoxin A" "male infertility due to round-headed spermatozoa" "male infertility due to globozoospermia" "round-headed sperm syndrome" "Male infertility due to round-headed spermatozoa" - "N-{[(3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-yl]carbonyl}-L-phenylalanine" - "Ochratoxin A" "blood serum SH2 domain-containing protein 1B amount" "SCN4A-related channelopathy" "Richards-Rundle syndrome" @@ -127344,6 +127348,7 @@ "large cell carcinoma of the lung" "large cell undifferentiated lung carcinoma" "large cell lung carcinoma" + "boil of eyelid" "blepharitis of eyelid gland" "furuncle of eyelid" "Boil of eyelid" @@ -127352,7 +127357,6 @@ "Furuncle of eyelid" "eyelid gland blepharitis" "Hordeolum" - "boil of eyelid" "occupation-related stress disorder" "AG11513 cell" "homeostasis model assessment insulin resistance" @@ -127477,8 +127481,8 @@ "disease of leukocyte" "disease or disorder of leukocyte" "leukocyte disorder" - "disorder, leukocyte" "disorder of leukocyte" + "disorder, leukocyte" "leukocyte disease" "adult mixed germ cell tumor of central nervous system" "mixed germ cell tumour of central nervous system of adults" @@ -127858,10 +127862,10 @@ "Vitamin B12-unresponsive methylmalonic aciduria" "A-172MG" "A-172 MG" - "haemorrhagic stroke" "hereditary myoclonus-progressive distal muscular atrophy syndrome" "Jankovic-Rivera syndrome" "acquired mineral metabolism disease" + "haemorrhagic stroke" "blood serum protein WFDC11 amount" "GM14479 cell" "ethmoid bone sinusitis" @@ -127896,6 +127900,10 @@ "disintegrin and metalloproteinase with thrombospondin motifs 13 measurement" "Diagnostic Techniques, Cardiovascular" "cardiovascular diagnostic technique" + "lymphoma of the nasal cavity" + "nasal cavity lymphoma" + "lymphoma of nasal cavity" + "primary nasal cavity lymphoma" "retroperitoneal space disease or disorder" "retroperitoneal disease" "disease of retroperitoneal space" @@ -127904,10 +127912,6 @@ "disease or disorder of retroperitoneal space" "retroperitoneal disorder" "GM17214 cell" - "lymphoma of the nasal cavity" - "nasal cavity lymphoma" - "lymphoma of nasal cavity" - "primary nasal cavity lymphoma" "low grade glioma" "low-grade glioma" "lateral rectus muscle innervation disorder" @@ -128091,6 +128095,12 @@ "California quail" "selective IgM deficiency disease" "selective immunoglobulin M deficiency" + "thymoma, mixed type" + "primary thymic epithelial tumor type AB" + "primary thymic epithelial tumour type AB" + "mixed type thymoma" + "primary thymic epithelial neoplasm type AB" + "thymoma type AB" "axon pathfinding" "Best Vitelliform Macular Dystrophy" "polymorphic vitelline macular degeneration" @@ -128106,12 +128116,6 @@ "macular dystrophy, vitelliform, type 2" "macular degeneration, polymorphic vitelline" "BEST1 retinopathy" - "thymoma, mixed type" - "primary thymic epithelial tumor type AB" - "primary thymic epithelial tumour type AB" - "mixed type thymoma" - "primary thymic epithelial neoplasm type AB" - "thymoma type AB" "High output heart failure (disorder)" "high output heart failure" "high output cardiac failure" @@ -128140,11 +128144,11 @@ "partial deletion of chromosome 16q" "partial monosomy of the long arm of chromosome 16" "adenocarcinoma in situ" + "mandibular hypoplasia-hearing loss-progeroid syndrome" + "MDP syndrome" "non-distal deletion 12q" "non-telomeric monosomy 12q" "non-distal monosomy type 12q" - "mandibular hypoplasia-hearing loss-progeroid syndrome" - "MDP syndrome" "inner ear" "auris interna" "internal ear" @@ -128829,11 +128833,11 @@ "bovine respiratory disease complex" "substance induced mood disorders" "substance-related disorder" + "GM17242 cell" "Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora" "GCM syndrome" "Craniofacial dysostosis - genital, dental, cardiac anomalies" "Dental and eye anomalies-patent ductus arteriosus-normal intelligence" - "GM17242 cell" "blood serum serine protease HTRA1 amount" "blood serum aspartyl/asparaginyl beta-hydroxylase amount" "PKDYS" @@ -128946,12 +128950,12 @@ "TUBB3 congenital fibrosis of extraocular muscles" "congenital fibrosis of extraocular muscles caused by mutation in TUBB3" "fibrosis of extraocular muscles, congenital, 3A" - "seq_library_selection" "HE" "Hashimoto Encephalopathy" "congenital elliptocytosis" "hereditary ovalocytosis" "ovalocytosis" + "seq_library_selection" "regenerating fins" "Geotrichosis (disorder)" "Geotrichosis" @@ -129442,12 +129446,12 @@ "Peyronie's fibromatosis" "penile induration" "ml/kg" - "blood serum peroxisomal carnitine O-octanoyltransferase amount" "Anterior uveitis [Ambiguous]" "anterior uveitis (disease)" "anterior uveitis" "Anterior uveitis, NOS" "Uveitis, Anterior" + "blood serum peroxisomal carnitine O-octanoyltransferase amount" "mucin-producing carcinoma" "GM17217 cell" "HDL4" @@ -129558,6 +129562,7 @@ "Atypical HUS with complement gene abnormality" "aHUS with complement gene abnormality" "Casamassima-Morton-Nance syndrome" + "COXPD51" "monosomy 3qter" "chromosome 3q29 microdeletion syndrome, isolated cases" "3q29 microdeletion syndrome" @@ -129565,7 +129570,6 @@ "Del(3)(q29)" "3qter deletion" "monosomy 3q29" - "COXPD51" "malignant thymoma type B3" "well differentiated thymic carcinoma" "atypical thymoma" @@ -129658,8 +129662,8 @@ "vulvar tumour" "vulva tumor" "mammalian vulva tumor" - "mammalian vulva neoplasm" "tumour of vulva" + "mammalian vulva neoplasm" "vulvar tumor" "vulval neoplasm" "mammalian vulva tumour" @@ -129850,7 +129854,6 @@ "nail disorder, nonsyndromic congenital, type 8" "familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form" "congenital primary megalo-ureter" - "TGP measurement" "hand-foot-genital syndrome" "HFGS" "hand-foot-uterus syndrome" @@ -129883,6 +129886,7 @@ "zeugopod of forelimb" "lower arm" "blood serum phosphatidylinositol 5-phosphate 4-kinase type-2 beta amount" + "TGP measurement" "non-small cell lung cancer" "non-small cell lung carcinoma (disease)" "non-small cell cancer of lung" @@ -130545,12 +130549,12 @@ "Leri pleonosteosis" "chondroid chordoma (morphologic abnormality)" "chondroid chordoma" - "K deficiency" - "potassium deficiency" - "Potassium Deficiency" "leiomyoma of mammalian vulva" "vulvar leiomyoma" "mammalian vulva leiomyoma" + "K deficiency" + "potassium deficiency" + "Potassium Deficiency" "malignant neoplasm of skeletal element" "malignant bone neoplasm" "skeletal element cancer" @@ -130728,8 +130732,8 @@ "CARBON DIOXIDE" "methanedione" "carbon dioxide" - "Sequencing of psoralen crosslinked, ligated, and selected hybrids" "blood serum oxytocin-neurophysin 1 amount" + "Sequencing of psoralen crosslinked, ligated, and selected hybrids" "Wide toe" "Broad toe" "Corpus callosum agenesis - polysyndactyly" @@ -130908,11 +130912,11 @@ "development stage" "developmental_stage" "life cycle stage" - "mild heart failure" - "NYHA class II" "blood serum glycylpeptide N-tetradecanoyltransferase 2 amount" "brain calcification, Rajab type" "neurodevelopmental disorder with brain, liver, and lung abnormalities" + "mild heart failure" + "NYHA class II" "cardia of stomach cancer" "Ca cardia - stomach" "malignant cardia of stomach neoplasm" @@ -131245,16 +131249,16 @@ "camptosynpolydactyly, complex" "EDS, classic-like type" "Ehlers-Danlos syndrome, classic-like type" - "CD4-negative, CD8-negative type I NKT cell secreting interleukin-4" - "CD4-negative, CD8-negative type I NK T-lymphocyte secreting interleukin-4" - "CD4-negative, CD8-negative type I NK T-cell secreting interleukin-4" - "CD4-negative, CD8-negative type I NK T lymphocyte secreting interleukin-4" - "CD4-negative, CD8-negative type I NK T cell secreting IL-4" "afferent glomerular arteriole" "arteriola glomerularis afferens renis" "afferent glomerular arteriole of kidney" "kidney afferent arteriole" "afferent arteriole" + "CD4-negative, CD8-negative type I NKT cell secreting interleukin-4" + "CD4-negative, CD8-negative type I NK T-lymphocyte secreting interleukin-4" + "CD4-negative, CD8-negative type I NK T-cell secreting interleukin-4" + "CD4-negative, CD8-negative type I NK T lymphocyte secreting interleukin-4" + "CD4-negative, CD8-negative type I NK T cell secreting IL-4" "leukodystrophy due to alkaline ceramidase 3 deficiency" "ACER3-related early childhood-onset progressive leukodystrophy" "blood serum SHC-transforming protein 4 amount" @@ -131793,6 +131797,7 @@ "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" "molybdenum cofactor deficiency, complementation group type a" "blood serum ephrin type-A receptor 4 amount" + "blood serum neuropilin and tolloid-like protein 2 amount" "large intestine leiomyoma" "leiomyoma of large intestine" "colorectal leiomyoma" @@ -131801,7 +131806,6 @@ "leiomyoma of the large intestine" "leiomyoma of large bowel" "colorectum leiomyoma" - "blood serum neuropilin and tolloid-like protein 2 amount" "oligodendroglioma of adults" "grade II adult oligodendroglial tumour" "adult oligodendroglioma" @@ -131856,8 +131860,6 @@ "aminoacylase 2 deficiency" "aspartoacylase deficiency" "spongy degeneration of central nervous system" - "Del(14)(q11.2)" - "Monosomy 14q11.2" "hyperinsulinemia hypoglycemia" "Nesidioblastosis" "hyperinsulinemic hypoglycemia" @@ -131869,6 +131871,8 @@ "process resulting in protein modification" "cellular protein modification process" "protein modification" + "Del(14)(q11.2)" + "Monosomy 14q11.2" "Cayman cerebellar ataxia" "ataxia, cerebellar, Cayman type" "Cayman type cerebellar ataxia" @@ -131999,8 +132003,8 @@ "SU8686" "SU86.86" "SU86-86" - "Su-86-86" "SU-86-86" + "Su-86-86" "ARCL2" "cutis laxa with joint laxity and developmental delay" "inborn error of glucose transport" @@ -132380,6 +132384,13 @@ "retinitis pigmentosa 91" "thyroglossal tract cyst" "thyroglossal duct cyst" + "CDG2D" + "CDG syndrome type IId" + "Carbohydrate deficient glycoprotein syndrome type IId" + "Beta-1,4-galactosyltransferase deficiency" + "CDG-IId" + "Congenital disorder of glycosylation type IId" + "Congenital disorder of glycosylation type 2d" "speech-language disorder type 1" "developmental verbal dyspraxia" "speech and language disorder with orofacial dyspraxia" @@ -132389,13 +132400,6 @@ "acute eustachian tube salpingitis" "acute otosalpingitis" "telomeres" - "CDG2D" - "CDG syndrome type IId" - "Carbohydrate deficient glycoprotein syndrome type IId" - "Beta-1,4-galactosyltransferase deficiency" - "CDG-IId" - "Congenital disorder of glycosylation type IId" - "Congenital disorder of glycosylation type 2d" "tert-butyl hydroperoxide" "myofibrillar myopathy type 2" "autosomal dominant distal myopathy caused by mutation in CRYAB" @@ -132530,8 +132534,8 @@ "upper digestive tract disease or disorder" "disorder of upper gastrointestinal tract" "disease of upper digestive tract" - "blood serum interferon alpha-8 amount" "whole genome" + "blood serum interferon alpha-8 amount" "kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency" "EDS, kyphoscoliotic type" "Ehlers-Danlos syndrome, kyphoscoliotic type 1" @@ -132829,13 +132833,13 @@ "late infantile NCL" "oligosaccharide metabolism" "Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" - "Monosomy 2q24" - "Del(2)(q24)" "oligodendroglioma of the brain" "oligodendroglioma of brain" "brain oligodendroglioma" "chronic acute hepatic porphyria" "acute hepatic porphyria, chronic" + "Monosomy 2q24" + "Del(2)(q24)" "blood serum pre-mRNA-splicing regulator WTAP amount" "blood serum sorting nexin-27 amount" "spindle cell nevus" @@ -133039,10 +133043,10 @@ "Bronchiolitis exudativa" "Obliterative bronchiolitis" "constrictive bronchiolitis" - "Chondrodysplasia, Grebe type" "sympathetic chain" "sympathetic part of autonomic division of nervous system" "PNS - sympathetic" + "Chondrodysplasia, Grebe type" "non-steroid anti-inflammatory drug use measurement" "inborn error of glycerol metabolic process" "rare inborn error of glycerol metabolic process" @@ -133189,13 +133193,13 @@ "autosomal dominant disease with focal palmoplantar keratoderma as a major feature" "disease with focal palmoplantar keratoderma as a major feature, autosomal dominant" "autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature" - "Longman-Tolmie syndrome" "Aleijadinhos (Brazilian type)" "acheiropodia" "Horn-Kolb Syndrome" "Acheiropody" "acheiropody" "Toes absent" + "Longman-Tolmie syndrome" "colon villous adenoma" "villous adenoma of the colon" "colonic villous adenoma" @@ -133216,12 +133220,12 @@ "Follicular stimulating hormone-resistant ovaries" "46,XX ovarian dysgenesis" "XX female gonadal dysgenesis" + "Pharyngula:Prim-5" "neonatal lupus" "neonatal lupus syndrome" "Neonatal Lupus Erythematosus" "Neonatal Lupus" "neonatal lupus erythematosus" - "Pharyngula:Prim-5" "level of phosphatidylcholine O-16:0_20:4 in blood serum" "blood serum phosphatidylcholine O-16:0_20:4 amount" "Inflammatory Bowel Diseases" @@ -133520,7 +133524,6 @@ "precursor B-cell acute lymphoblastic leukaemia caused by mutation in PAX5" "leukemia, acute lymphoblastic, susceptibility to, type 3" "PAX5 precursor B-cell acute lymphoblastic leukemia" - "sodium chloride" "granular-lattice corneal dystrophy" "CGD2" "combined granular-lattice corneal dystrophy" @@ -133529,6 +133532,7 @@ "avellino corneal dystrophy" "granular corneal dystrophy type 2" "GCDII" + "sodium chloride" "blood serum BRCA1-associated ATM activator 1 amount" "Stuttering" "Stammering" @@ -133905,8 +133909,8 @@ "VLDL particle size measurement" "Shef-1" "SHEF1" - "disorder of bilirubin metabolism" "blood serum protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 amount" + "disorder of bilirubin metabolism" "chromosome 5p13 duplication syndrome, isolated cases" "trisomy 5p13" "5p13 microduplication syndrome" @@ -133961,8 +133965,8 @@ "immunodeficiency 31B" "STAT1 deficiency" "Familial infantile hypercalcemia with suppressed intact parathyroid hormone" - "GM14408 cell" "blood serum transcriptional adapter 1-like protein amount" + "GM14408 cell" "SHFM" "Split hand foot malformation" "Ectrodactyly" @@ -134863,8 +134867,8 @@ "chronic progressive multiple sclerosis" "Multiple Sclerosis, Remittent Progressive" "Multiple Sclerosis, Secondary Progressive" - "Primary Progressive Multiple Sclerosis" "Remittent Progressive Multiple Sclerosis" + "Primary Progressive Multiple Sclerosis" "blood serum parathyroid hormone/parathyroid hormone-related peptide receptor amount" "blood serum myosin light polypeptide 6 amount" "PYCR1 de Barsy syndrome" @@ -135510,9 +135514,9 @@ "Biliary duct atresia" "Rare autism spectrum disorder" "GM00144 cell" - "Abnormality of the occipital bone" "CMD-CRB" "CMD with cerebellar involvement" + "Abnormality of the occipital bone" "vulva" "female pudendum" "mammalian vulva" @@ -135820,10 +135824,10 @@ "caudal hematopoietic tissue" "blood serum spindlin-1 amount" "blood serum butyrophilin subfamily 2 member A2 amount" - "Underdeveloped cerebrum" - "Small cerebrum" "high content screening protocol" "high content screen library protocol" + "Underdeveloped cerebrum" + "Small cerebrum" "Stegomyia albopicta" "forest day mosquito" "Asian tiger mosquito" @@ -136188,10 +136192,10 @@ "Neoplasm, Thyroid" "Thyroid Neoplasms" "thyroid gland neoplasm (disease)" - "Boyes Arabidopsis Growth Stage 1.09" - "BBCH growth stage 19" "Uterine Cervical Incompetence" "cervical incompetence" + "Boyes Arabidopsis Growth Stage 1.09" + "BBCH growth stage 19" "blood serum coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial amount" "Minocycline" "(4S,4aS,5aR,12aS)-4,7-bis(dimethylamino)-3,10,12,12a-tetrahydroxy-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide" @@ -136357,8 +136361,8 @@ "pulmonary artery syncytioma" "choriocarcinoma of pulmonary artery" "chorioepithelioma of pulmonary artery" - "MDS.Gr1hi" "blood serum small ribosomal subunit protein RACK1 amount" + "MDS.Gr1hi" "blood serum homeobox protein TGIF2LY amount" "COFS" "Pena-Shokeir syndrome type 2" @@ -136729,9 +136733,9 @@ "oesophagus small cell carcinoma" "Oat cell carcinoma of the esophagus" "esophagus small cell carcinoma" + "small cell carcinoma of the oesophagus" "esophagus Oat cell carcinoma" "esophageal small cell NEC" - "small cell carcinoma of the oesophagus" "esophageal Oat cell carcinoma" "Oat cell carcinoma of oesophagus" "small cell carcinoma of the esophagus" @@ -136936,17 +136940,17 @@ "Anterior bulging of the globe of eye" "Eyeballs bulging out" "Bulging eye" - "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" - "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" - "46,XY disorder of sex development due to LHB deficiency" - "46,XY DSD due to luteinizing hormone subunit beta deficiency" - "46,XY DSD due to LHB deficiency" "blood serum chloride intracellular channel protein 4 amount" "Elevated diastolic BP" "vnc" "larval ventral ganglion" "ventral cord" "subesophageal + T1 + T2 + T3 + A1 + A2 + A3 + A4 + A5 + A6 + A7 + A8 ganglia" + "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" + "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" + "46,XY disorder of sex development due to LHB deficiency" + "46,XY DSD due to luteinizing hormone subunit beta deficiency" + "46,XY DSD due to LHB deficiency" "(2E,4R,5S,6E)-3,5-dimethoxy-4-methyl-7-{2'-[(2S,3E,5E)-7-methylocta-3,5-dien-2-yl][2,4'-bi-1,3-thiazol]-4-yl}hepta-2,6-dienamide" "Bm3 B-lymphocyte" "Bm3 B-cell" @@ -136982,9 +136986,9 @@ "Ralstonia solanacearum str. UW551" "blood serum deubiquitinase MYSM1 amount" "Double heterozygotes sickling disorder" + "Jancar syndrome" "suppression of urinary secretion" "anuria" - "Jancar syndrome" "laryngeal dyskinesia" "spasmodic dysphonia" "spastic dysphonia" @@ -137281,8 +137285,8 @@ "Light-chain amyloidosis" "primary amyloidosis" "endometrial squamous cell carcinoma" - "squamous cell carcinoma of the endometrium" "squamous cell carcinoma of endometrium" + "squamous cell carcinoma of the endometrium" "endometrium squamous cell carcinoma" "Clostridium argentinense Suen et al. 1988" "polydactyly, postaxial, type A8" @@ -137611,10 +137615,10 @@ "Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant" "Fibrinogen A alpha-chain amyloidosis" "Familial amyloid nephropathy due to fibrinogen A alpha-chain variant" + "blood serum collagen alpha-2(XI) chain amount" "male reproductive system tuberculosis" "Tuberculosis, Male Genital" "male genital tuberculosis" - "blood serum collagen alpha-2(XI) chain amount" "non-communicating hydrocephalus" "fibrofolliculomas with trichodiscomas and acrochordons" "BHD" @@ -137636,12 +137640,12 @@ "bone biosynthesis" "Peroxisome biogenesis disorder complementation group B" "PBD-CG7" - "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" - "type A insulin resistance syndrome" "FCAS" "Familial cold autoinflammatory syndrome" "FCAS1" "FCU" + "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" + "type A insulin resistance syndrome" "PBC" "chronic non-suppurative destructive cholangitis" "cholestatic cirrhosis" @@ -137917,8 +137921,8 @@ "branched-chain 2-ketoacid dehydrogenase deficiency" "MSUD" "branched chain ketoaciduria" - "5-hydroxylysine" "mediastinal node" + "5-hydroxylysine" "vps45 deficiency" "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" "osteo-onychodysplasia" @@ -138150,13 +138154,14 @@ "blood serum apolipoprotein A-V amount" "hereditary schizencephaly" "familial schizencephaly" - "Pseudomonas aeruginosa PA14 infection" "sickle cell-beta-thalassemia disease syndrome" "sickle cell-Beta-thalassemia" "S-Beta thalassemia" "HbS-beta-thalassemia syndrome" "Hb S-Beta thalassemia" "sickle cell-Beta thalassemia" + "Pseudomonas aeruginosa PA14 infection" + "SANDO" "atrial fibrillation, familial, type 12" "familial atrial fibrillation caused by mutation in ABCC9" "atrial fibrillation, familial, 12" @@ -138165,7 +138170,6 @@ "tectum" "neuraxis tectum" "tectum mesencephali" - "SANDO" "GM23245" "UKE-1" "ALI" @@ -138196,6 +138200,8 @@ "blood serum C1GALT1-specific chaperone 1 amount" "Neuropathy - ataxia - retinitis pigmentosa" "Neurogenic muscle weakness - ataxia - retinitis pigmentosa" + "AG07307 cell" + "blood serum Sterol ester (27:1/20:2) amount" "Meningeal Neoplasms" "Neoplasm, Intracranial Meningeal" "tumor of meningeal cluster" @@ -138267,8 +138273,6 @@ "Neoplasms, Meningeal" "Neoplasm, Meningeal" "Meningeal Neoplasm, Intracranial" - "AG07307 cell" - "blood serum Sterol ester (27:1/20:2) amount" "blood serum myeloid zinc finger 1 amount" "familial cold autoinflammatory syndrome type 3" "FACU" @@ -138403,9 +138407,9 @@ "acinic cell tumor of salivary gland" "salivary gland acinic cell tumor" "acinic cell carcinoma of the salivary gland" + "salivary gland acinic cell carcinoma" "salivary gland acinic cell cancer" "acinic cell carcinoma of salivary gland" - "salivary gland acinic cell carcinoma" "blood serum adenylate kinase 4, mitochondrial amount" "MCT" "T mast cells" @@ -139295,10 +139299,6 @@ "MDC1B" "CMD1B" "eye allergy" - "cranial NCC population" - "CNC" - "cephalic neural crest" - "head NCC population" "Catel Manzke Syndrome" "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" "micrognathia digital syndrome" @@ -139307,6 +139307,10 @@ "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome" "index finger anomaly-Pierre Robin syndrome" "Catel-Manzke syndrome" + "cranial NCC population" + "CNC" + "cephalic neural crest" + "head NCC population" "adenocarcinoma of nasal cavity" "adenocarcinoma of the nasal cavity" "nasal cavity adenocarcinoma" @@ -139668,8 +139672,8 @@ "aminoacetic acid" "GLYCINE" "nucleobase, nucleoside and nucleotide metabolism" - "blood serum thioredoxin-related transmembrane protein 1 amount" "parasitic eye infection" + "blood serum thioredoxin-related transmembrane protein 1 amount" "genetic renal tubular dysgenesis" "renal tubular dysgenesis of genetic origin" "germ cell tumor of the mediastinum" @@ -140005,11 +140009,11 @@ "blood serum leukotriene B4 receptor 1 amount" "ectodermal dysplasia-skin fragility syndrome" "McGrath syndrome" + "TAG 56:6" "lymphoma of eyeball of camera-type eye" "eyeball of camera-type eye lymphoma" "eye lymphoma" "primary eye lymphoma" - "TAG 56:6" "level of phosphatidylinositol 16:0_18:1 in blood serum" "blood serum phosphatidylinositol 16:0_18:1 amount" "Del(2)(q31.1)" @@ -140089,6 +140093,7 @@ "benign tumour of the colon" "colon benign neoplasm" "benign colonic tumour" + "blood serum kallikrein-15 amount" "intervertebral Disc degenerative disease" "intervertebral disc disease" "intervertebral disc degeneration" @@ -140107,7 +140112,6 @@ "IDD" "intervertebral disk disease" "intervertebral Disc Degeneration" - "blood serum kallikrein-15 amount" "Wieacker-Wolff syndrome" "Foot contractures - muscle atrophy - oculomotor apraxia" "placoda otica" @@ -140318,9 +140322,6 @@ "blood serum methionine-R-sulfoxide reductase B1 amount" "Bleeding below the skin" "Subcutaneous haemorrhage" - "CHO/IR" - "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" - "squamous cell carcinoma of liver and IBT" "Accelerated skeletal maturation - peculiar facies - failure to thrive" "HS" "hidradenitis suppurativa" @@ -140331,6 +140332,9 @@ "hidradenitis" "verneuil disease" "fox den disease" + "CHO/IR" + "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" + "squamous cell carcinoma of liver and IBT" "hereditary thrombotic thrombocytopenic purpura" "congenital ADAMTS13 deficiency" "Upshaw-Schulman syndrome" @@ -140679,16 +140683,16 @@ "sham therapy" "placebo therapy" "PLCB" - "sessile serrated polyp/adenoma" - "serrated adenoma type I" - "sessile serrated adenoma/polyp" - "serrated polyp with abnormal proliferation" "Decreased aldosterone" "Mineralocorticoid insufficiency" "Decreased serum aldosterone" "Decreased aldosterone production" "Low blood aldosterone level" "Hypoaldosteronism" + "sessile serrated polyp/adenoma" + "serrated adenoma type I" + "sessile serrated adenoma/polyp" + "serrated polyp with abnormal proliferation" "blood serum disks large homolog 4 amount" "congenital folate malabsorption" "primary hyperparathyroidism (disorder)" @@ -140770,14 +140774,14 @@ "Proctosigmoiditis (disorder)" "Proctocolitis" "ulcerative (chronic) proctosigmoiditis" - "Angiomyoma" - "vascular leiomyoma" - "Angiomyoma (morphologic abnormality)" "autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL" "LGMD1G" "muscular dystrophy limb-girdle type 1G" "HNRNPDL autosomal dominant limb-girdle muscular dystrophy" "muscular dystrophy, limb-girdle, autosomal dominant 3" + "Angiomyoma" + "vascular leiomyoma" + "Angiomyoma (morphologic abnormality)" "maxillary sinusitis, acute" "acute antritis" "Neonatal-Onset Multisystem Inflammatory Disease" @@ -140979,10 +140983,10 @@ "thale-cress" "Arbisopsis thaliana" "recurrent Neisseria infections due to factor D deficiency" + "hypertelorism and tetralogy of fallot" "non-small cell squamous lung cancer" "non-small cell squamous lung carcinoma" "squamous non-small cell lung carcinoma" - "hypertelorism and tetralogy of fallot" "46,XY sex reversal 3" "46XY sex reversal 3" "46,XY Sex reversal type 3" @@ -141134,6 +141138,12 @@ "Car2" "CAII" "CA-II" + "islet cell adenomatosis" + "rhabdomyosarcoma with mixed embryonal and alveolar features" + "mixed type alveolar rhabdomyosarcoma" + "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" + "mixed type rhabdomyosarcoma" + "mixed alveolar rhabdomyosarcoma" "acute generalised peritonitis" "acute generalized peritonitis" "peritoneum inflammation" @@ -141141,12 +141151,6 @@ "peritonitis" "primary bacterial peritonitis" "inflammation of peritoneum" - "islet cell adenomatosis" - "rhabdomyosarcoma with mixed embryonal and alveolar features" - "mixed type alveolar rhabdomyosarcoma" - "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" - "mixed type rhabdomyosarcoma" - "mixed alveolar rhabdomyosarcoma" "blood serum coiled-coil domain-containing protein 149 amount" "blood serum trafficking protein particle complex subunit 5 amount" "Abnormality of female external genitalia" @@ -141192,10 +141196,6 @@ "WS4 plus" "PCWH" "Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease" - "Vitreoretinal degeneration, Wagner type" - "Wagner syndrome" - "VCAN-related vitreoretinopathy" - "Dominant hyaloideoretinal dystrophy of Wagner" "anterior uveal tract" "tunica vasculosa bulbosa" "anterior vascular layer of the eyeball" @@ -141204,6 +141204,10 @@ "anterior vascular tunic of the eye" "anterior part of uveal tract" "water-West syndrome" + "Vitreoretinal degeneration, Wagner type" + "Wagner syndrome" + "VCAN-related vitreoretinopathy" + "Dominant hyaloideoretinal dystrophy of Wagner" "L-gamma-glutamyl-L-glutamic acid" "malignant vulvar neoplasm" "cancer of mammalian vulva" @@ -141247,8 +141251,8 @@ "catena-poly[(oxidoarsenate-mu-oxido)]sodium" "Sodium arsenite" "Inability to walk by childhood/adolescence" - "Bosma Arhinia Microphthalmia Syndrome" "GM17199 cell" + "Bosma Arhinia Microphthalmia Syndrome" "Connatal PMD" "Severe PMD" "Pelizaeus-Merzbacher disease type II" @@ -141343,6 +141347,7 @@ "OA1" "Ocular albinism type 1" "Ocular albinism, Nettleship-Falls type" + "blood serum MARCKS-related protein amount" "SGBS" "Simpson-Golabi-Behmel syndrome type 1" "Golabi-Rosen syndrome" @@ -141351,7 +141356,6 @@ "DGSX" "Simpson dysmorphia syndrome" "SDYS" - "blood serum MARCKS-related protein amount" "peroxisome biogenesis disorder 3A (Zellweger)" "infant intestinal toxin-mediated botulism" "infantile onset botulism" @@ -141499,9 +141503,9 @@ "CIN" "cervical squamous intraepithelial lesion" "squamous intraepithelial lesion of the uterine cervix" + "uterine cervix squamous intraepithelial lesion" "squamous intraepithelial lesion of the cervix uteri" "cervix squamous intraepithelial lesion" - "uterine cervix squamous intraepithelial lesion" "blood serum glucosamine-6-phosphate isomerase 1 amount" "renal dysplasia-limb defects syndrome" "renal dysplasia-mesomelia-radiohumeral fusion syndrome" @@ -141996,11 +142000,11 @@ "CNS demyelinating autoimmune disease" "Demyelinating Autoimmune Diseases, CNS" "blood serum N-acetylated-alpha-linked acidic dipeptidase 2 amount" + "Van Benthem-Driessen-Hanveld syndrome" "Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome" "AEC syndrome" "Hay-Wells syndrome" "AEC Syndrome" - "Van Benthem-Driessen-Hanveld syndrome" "portion of plant callus tissue" "blood serum SH3 domain-binding glutamic acid-rich-like protein 2 amount" "DKCB4" @@ -142018,8 +142022,8 @@ "Absent ribs" "Oculo-oto-radial syndrome" "Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" - "surfactant" "Epidermolysis bullosa simplex, herpetiformis" + "surfactant" "Mouse Erythroleukemia cell line" "MEL" "popliteal pterygium syndrome, autosomal dominant" @@ -142372,6 +142376,14 @@ "Eye Colors" "Color, Eye" "blood serum transmembrane emp24 domain-containing protein 9 amount" + "CMT" + "Charcot-Marie-Tooth hereditary neuropathy" + "lymphangioendothelial sarcoma" + "malignant lymphangioendothelioma" + "lymphangiosarcoma, malignant" + "lymphangiosarcoma" + "lymphangiosarcoma of Stewart and Treves" + "Stewart-Treves syndrome" "Simian immunodeficiency virus caused disease or disorder" "Simian immunodeficiency virus infectious disease" "simian immunodeficiency virus infection" @@ -142379,14 +142391,6 @@ "SIV" "Malformation of brainstem structures" "Brainstem hypoplasia/dysplasia" - "lymphangioendothelial sarcoma" - "malignant lymphangioendothelioma" - "lymphangiosarcoma, malignant" - "lymphangiosarcoma" - "lymphangiosarcoma of Stewart and Treves" - "Stewart-Treves syndrome" - "CMT" - "Charcot-Marie-Tooth hereditary neuropathy" "blood serum target of Myb1 membrane trafficking protein amount" "hereditary mitral valve disease" "congenital anomaly of mitral valve" @@ -142572,11 +142576,11 @@ "unspecified mitochondrial disorder" "monosomy type X" "intellectual developmental disorder with short stature, facial anomalies, and speech defects" - "Stratton-Parker syndrome" "anti-neutrophil antibody associated vasculitis" "acute glomerulonephritis with lesion of proliferative glomerulonephritis" "proliferative glomerulonephritis, acute" "post-streptococcal glomerulonephritis" + "Stratton-Parker syndrome" "lipoma of the CNS" "central nervous system lipoma" "CNS lipoma" @@ -143044,8 +143048,6 @@ "DMD" "Infantile malignant osteopetrosis" "GM17844 cell" - "p-null phenotype" - "Tj[a-]" "Staphylococcus aureus subsp. aureus strain USA300" "Staphylococcus aureus subsp. aureus str. USA300" "distal spinal muscular atrophy" @@ -143053,6 +143055,8 @@ "neuronopathy, distal hereditary motor" "dSMA" "classically activated macrophage" + "p-null phenotype" + "Tj[a-]" "blood serum interferon regulatory factor 8 amount" "tibiofibular terminal transverse meromelia, unilateral" "disease with focal palmoplantar hyperkeratosis as a major feature" @@ -143144,14 +143148,14 @@ "Developmental Delay, Epilepsy, and Neonatal Diabetes 1" "diabetes, permanent neonatal 2, with or without neurologic features" "PNDM2" - "Comèl-Netherton syndrome" - "NS" - "Bamboo hair syndrome" "legionellosis" "Legionella infection" "Legionellosis" "Legionnaires disease" "Legionella infection (disorder)" + "Comèl-Netherton syndrome" + "NS" + "Bamboo hair syndrome" "Xanthomonas oryzae pv. oryzae strain PXO99A" "Xanthomonas oryzae pv. oryzae str. PXO99A" "Xanthomonas oryzae pv. oryzae PX099A" @@ -143260,8 +143264,8 @@ "myocardium neoplasm" "myocardial neoplasm" "tumour of the myocardium" - "myocardial tumour" "myocardium tumour" + "myocardial tumour" "myocardium tumor" "tumor of myocardium" "myocardial tumor" @@ -143332,12 +143336,12 @@ "Delusions" "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" "LNZ-308" - "blood serum defensin beta 118 amount" "Ureaplasma urethritis" "Ureaplasma disease or disorder" "Ureaplasma Infections" "Ureaplasma infectious disease" "Ureaplasma caused disease or disorder" + "blood serum defensin beta 118 amount" "microeinstein per second and square meter" "distal arthrogryposis type IID" "distal arthrogryposis type 4" @@ -143613,8 +143617,8 @@ "AIR" "autoimmune disease of retina" "retina autoimmune disease" - "Thick helix" "blood serum draxin amount" + "Thick helix" "Leishmania (Leishmania) mexicana" "mouth carcinoma" "carcinoma of oral cavity" @@ -143653,11 +143657,11 @@ "mitral valve rheumatologic disorder" "rheumatologic disorder of mitral valve" "blood serum beta-adducin amount" - "blood serum 5-hydroperoxy-7-[3,5-epidioxy-2-(2-octenyl)-cyclopentyl]-6-heptenoic acid amount" "Binder syndrome" "Maxillonasal dysostosis" "binder type maxillonasal dysplasia" "binder syndrome" + "blood serum 5-hydroperoxy-7-[3,5-epidioxy-2-(2-octenyl)-cyclopentyl]-6-heptenoic acid amount" "Pima" "sarcoidosis of heart" "heart sarcoidosis" @@ -144014,8 +144018,8 @@ "CD4-positive, CD25-positive, alpha-beta regulatory T-cell" "CD4-positive, CD25-positive, alpha-beta regulatory T lymphocyte" "CD4-positive, CD25-positive, alpha-beta regulatory T-lymphocyte" - "GM17171 cell" "MRXS9" + "GM17171 cell" "leiomyoma of the lung" "pulmonary leiomyoma" "leiomyoma of lung" @@ -144432,13 +144436,13 @@ "Lycopersicum esculentum" "polymorphic light eruption" "polymorphous light eruption" - "Oculopharyngeal distal myopathy" - "OPDM" "congenital pulmonary alveolar proteinosis" "congenital PAP" "inborn error of pulmonary surfactant metabolism" "inborn error of surfactant metabolism" "hereditary pulmonary alveolar proteinosis" + "Oculopharyngeal distal myopathy" + "OPDM" "rheumatic disease" "rheumatism" "rheumatic disorder" @@ -144644,7 +144648,6 @@ "set of basal ganglia" "basal ganglia" "ADA2 deficiency" - "oxyntic cell" "Klatskin's tumor" "hilar CC" "hilar portion of hepatic duct cholangiocarcinoma" @@ -144655,6 +144658,7 @@ "Klatskin tumour" "hilar CCA" "perihilar extrahepatic bile duct carcinoma" + "oxyntic cell" "Blepharophimosis types 1 and 2 due to polyA expansion" "partial deletion of chromosome type 19" "partial monosomy of chromosome 19" @@ -144867,9 +144871,9 @@ "Salix viminalis L." "UPD(13)pat" "paternal uniparental disomy of chromosome type 13" - "plateletcrit (PCT)" "plateletcrit" "PCT" + "plateletcrit (PCT)" "platelet crit (PCT)" "viral esophagitis" "Viruses caused esophagitis (disease)" @@ -144955,8 +144959,8 @@ "NRAS Noonan syndrome" "benign neoplasm of cauda equina" "colloidal adenocarcinoma of the colon" - "colloid colon adenocarcinoma" "colloid adenocarcinoma of colon" + "colloid colon adenocarcinoma" "colloid adenocarcinoma of the colon" "colon colloidal adenocarcinoma" "colonic colloidal adenocarcinoma" @@ -145423,9 +145427,9 @@ "digestive system melanoma" "gastrointestinal melanoma" "GM17846 cell" + "marginal papular palmoplantar hyperkeratosis" "Camero-Lituania-Cohen syndrome" "Genoa syndrome" - "marginal papular palmoplantar hyperkeratosis" "melon necrotic spot virus MNSV" "MNSV" "Tuberculosis, Female Genital" @@ -145501,13 +145505,13 @@ "blood serum integrin beta-8 amount" "hereditary abdominal aortic aneurysm" "aortic aneurysm, familial abdominal" - "blood serum E3 ubiquitin ligase TRIM40 amount" "pulmonary mucoepidermoid carcinoma" "lung mucoepidermoid cancer" "lung mucoepidermoid carcinoma" + "blood serum E3 ubiquitin ligase TRIM40 amount" "Boil" - "Autosomal dominant pseudohypoaldosteronism type 1" "GM17779 cell" + "Autosomal dominant pseudohypoaldosteronism type 1" "x-linked spermatogenic failture type 1" "Germinal cell aplasia" "DEL CASTILLO syndrome" @@ -145637,11 +145641,11 @@ "IBM3" "Hereditary inclusion body myopathy type 3" "HIBM3" + "NVP severity measurement" + "Morning sickness severity measurement" "Achlamydospora indica" "Achlamydospora indicum" "fungal endophyte pNS1-2" - "NVP severity measurement" - "Morning sickness severity measurement" "embryonic dorsal organ" "recombinase activating gene 1 deficiency" "blood serum growth arrest-specific protein 7 amount" @@ -146674,8 +146678,8 @@ "2,3-dihydroxypropyl (9Z)-octadec-9-enoate" "1-oleoylglycerol" "Non-cerebral juvenile Gaucher disease" - "Primary blepharospasm" "GM17776 cell" + "Primary blepharospasm" "Crohn's ileitis" "kuru, susceptibility to" "combined 17-hydroxylase/17,20-lyase deficiency" @@ -146996,10 +147000,10 @@ "amyloidosis, MERETOJA type" "familial amyloidosis, Finnish type" "familial amyloid polyneuropathy type IV" - "GAMOS10" "typical endometrial hyperplasia" "endometrial hyperplasia without atypia" "GM17262 cell" + "GAMOS10" "peripheral demyelinating neuropathy" "Mesangiocapillary glomerulonephritis type 2" "membranoproliferative glomerulonephritis type 2" @@ -147280,24 +147284,24 @@ "AML, t(11;19)(q23;p13.1)" "somatic stem cell renewal" "Urrets-Zavalia syndrome" + "vesico-ureteral reflux" + "vesicoureteric reflux" + "vesicoureteral reflux (disease)" + "Vesico-Ureteral Reflux" + "vesicoureteral reflux" "JME" "myoclonic epilepsy, juvenile" "EJM" "juvenile myoclonus epilepsy" "myoclonic epilepsy, juvenile, 1" "epilepsy, myoclonic juvenile" - "vesico-ureteral reflux" - "vesicoureteric reflux" - "vesicoureteral reflux (disease)" - "Vesico-Ureteral Reflux" - "vesicoureteral reflux" "LCPS" "Porphyromonas gingivalis strain ATCC 33277" "Porphyromonas gingivalis str. ATCC 33277" "6-chloro-1-(4-hydroxyphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol" "eye(s), dry" - "Dry Eye Syndrome" "KCS" + "Dry Eye Syndrome" "tear film insufficiency" "Tear film insufficiency" "sicca, keratoconjunctivitis" @@ -147650,6 +147654,7 @@ "Wiedemann-Steiner syndrome" "partial trisomy of chromosome 2" "partial duplication of chromosome type 2" + "blood serum cerberus amount" "hemolytic disease of the foetus or newborn" "(Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn)" "erythroblastosis fetalis" @@ -147663,7 +147668,6 @@ "rhesus isoimmunisation of the newborn" "hemolytic disease of the fetus or newborn" "haemolytic disease due to rhesus isoimmunisation" - "blood serum cerberus amount" "malignant tumor of the uterine cervix" "malignant tumour of uterine cervix" "malignant tumor of the cervix uteri" @@ -148142,10 +148146,10 @@ "(2E,7R,11R)-3,7,11,15-tetramethylhexadec-2-en-1-ol" "blood serum electron transfer flavoprotein subunit alpha, mitochondrial amount" "CMT2C" - "labeling" "SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT" "autosomal dominant spastic paraplegia type 80" "SPG80" + "labeling" "Temtamy-Shalash syndrome" "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome" "temtamy syndrome" @@ -148336,8 +148340,8 @@ "benign neoplasm of the vagina" "vagina female reproductive organ benign neoplasm" "benign tumour of vagina" - "benign neoplasm of vagina" "benign tumor of the vagina" + "benign neoplasm of vagina" "benign vaginal tumor" "benign vaginal tumour" "benign vaginal neoplasms" @@ -148544,15 +148548,15 @@ "benign duodenal tumor" "benign tumor of the duodenum" "benign duodenal tumour" - "Ahn-Lerman-Sagie syndrome" "osteopetrosis (disease) caused by mutation in LRP5" "osteopetrosis, autosomal dominant type 1" "LRP5 osteopetrosis (disease)" "autosomal dominant osteopetrosis type 1" "OPTA1" + "Ahn-Lerman-Sagie syndrome" "blood serum cAMP-dependent protein kinase type II-beta regulatory subunit amount" - "bile duct squamous cell carcinoma" "Achondrogenesis, Langer-Saldino type" + "bile duct squamous cell carcinoma" "disintegrin and metalloproteinase with thrombospondin motifs 13 activity measurement" "DNA_sequencer" "Fitzsimmons-McLachlan-Gilbert syndrome" @@ -148810,7 +148814,6 @@ "truncus encephalicus" "Brainstem" "(6E,8Z,11Z,14Z)-5-oxoicosa-6,8,11,14-tetraenoic acid" - "MFS1" "Common Variable Hypogammaglobulinemias" "Deficiencies, Late-Onset Immunoglobulin" "Variable Hypogammaglobulinemias, Common" @@ -148846,6 +148849,7 @@ "Late-Onset Immunoglobulin Deficiency" "Common variable agammaglobulinemia" "Hypogammaglobulinemia, Common Variable" + "MFS1" "blood serum isochorismatase domain-containing protein 1 amount" "congenital pseudarthrosis of the ulna" "Anomaly of mouth shape" @@ -148914,9 +148918,9 @@ "immune dysfunction due to T-cell inactivation due to calcium entry defect" "bacterial haemorrhagic fever" "haemorrhagic fever, bacterial" + "blood serum zinc finger protein 410 amount" "cardioacrofacial dysplasia 1" "CAFD1" - "blood serum zinc finger protein 410 amount" "naked mole-rat" "naked mole rat" "peroxisome biogenesis disorder due to PEX19 defect" @@ -148961,12 +148965,12 @@ "blood serum Phosphatidylcholine (O-16:0_18:1) amount" "blood serum harmonin amount" "blood serum transcription elongation factor A protein 1 amount" - "noduli lymphoidei aggregati" "gall bladder leiomyoma" "leiomyoma of gallbladder" "gallbladder leiomyoma" "leiomyoma of the gallbladder" "leiomyoma of gall bladder" + "noduli lymphoidei aggregati" "peroxisome biogenesis disorder 1A (Zellweger)" "skin zone" "portion of skin" @@ -149024,12 +149028,12 @@ "PLA2G6-related dystonia-parkinsonism" "PARK14" "blood serum Myb/SANT-like DNA-binding domain-containing protein 2 amount" - "Mo.6c+II" "LRP4 sclerosteosis" "sclerosteosis type 2" "SOST2" "sclerosteosis 2" "sclerosteosis caused by mutation in LRP4" + "Mo.6c+II" "ductus ejaculatorius" "chromogranin B cleavage product measurement" "quadrate bone" @@ -149283,12 +149287,12 @@ "Usher syndrome caused by mutation in CLRN1" "USH3A" "CLRN1 Usher syndrome" + "Alpha-methyl-acetoacetyl-CoA thiolase deficiency" "Western equine encephalitis virus caused infectious encephalitis" "Western equine encephalitis virus infectious encephalitis" "Western equine encephalomyelitis" "Encephalomyelitis, Western Equine" "western equine encephalitis" - "Alpha-methyl-acetoacetyl-CoA thiolase deficiency" "blood serum mitogen-activated protein kinase kinase kinase kinase 3 amount" "Bartsocas Papas syndrome" "autosomal recessive popliteal pterygium syndrome" @@ -149309,6 +149313,7 @@ "facial VII" "facial nerve tree" "seventh cranial nerve" + "AG08904 cell" "retinopathy-encephalopathy-deafness associated with microangiopathy" "Susac syndrome" "small infarctions of cochlear, retinal and encephalic tissue" @@ -149317,7 +149322,6 @@ "Susac's syndrome" "Retinocochleocerebral Vasculopathy" "SICRET syndrome" - "AG08904 cell" "volume percentage" "% (v/v)" "BG02" @@ -149473,8 +149477,8 @@ "blood serum ethanolamine kinase 1 amount" "cardiovascular system tumor" "cardiovascular system neoplasm" - "cardiovascular tumour" "cardiovascular system tumour" + "cardiovascular tumour" "tumor of cardiovascular system" "cardiovascular tumor" "neoplasm of cardiovascular system" @@ -149784,6 +149788,7 @@ "acrocephalosyndactylia type V" "type V Acrocephalosyndactyly" "acrocephalosyndactyly type V" + "growth hormone producing tumour of the pituitary gland" "pituitary gland somatotropinoma" "growth hormone producing neoplasm of the pituitary gland" "growth hormone secreting neoplasm of the pituitary" @@ -149834,7 +149839,6 @@ "growth hormone secreting tumour of pituitary" "Growth hormone-producing pituitary gland tumour" "somatotropinoma of pituitary gland" - "growth hormone producing tumour of the pituitary gland" "blood serum KH domain-containing RNA-binding protein QKI amount" "early menopause" "premature menopause" @@ -149951,6 +149955,7 @@ "XLSA" "MIH" "qualitative or quantitative defects of protein POMGNT1" + "Bull-Nixon syndrome" "6-pyruvoyl tetrahydropterin synthase deficiency" "6-pyruvoyl-tetrahydropterin synthase deficiency" "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency" @@ -149961,7 +149966,6 @@ "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" "BH4-deficient hyperphenylalaninemia A" "HPABH4A" - "Bull-Nixon syndrome" "autosomal recessive centronuclear myopathy caused by mutation in SPEG" "centronuclear myopathy 5" "myopathy, centronuclear, 5" @@ -150009,8 +150013,8 @@ "Epidemic encephalitis (disorder)" "Arthropod-borne viral encephalitis, vector unknown (disorder)" "Viral encephalitis NOS" - "blood serum glycoprotein hormone alpha-2 amount" "Blepharophimosis types 1 and 2" + "blood serum glycoprotein hormone alpha-2 amount" "blood serum TERF1-interacting nuclear factor 2 amount" "obstruction of bile duct" "bile occlusion" @@ -150194,8 +150198,6 @@ "isolated protirelin deficiency" "isolated thyroliberin deficiency" "isolated TSH-releasing factor deficiency" - "immunodeficiency-centromeric instability-facial anomalies syndrome" - "immunodeficiency-centromeric instability-facial anomalies" "autosomal recessive spastic paraplegia type 57" "TFG hereditary spastic paraplegia" "spastic paraplegia due to partial TFG deficiency" @@ -150203,6 +150205,8 @@ "hereditary spastic paraplegia caused by mutation in TFG" "autosomal recessive spastic paraplegia 57" "SPG57" + "immunodeficiency-centromeric instability-facial anomalies syndrome" + "immunodeficiency-centromeric instability-facial anomalies" "PROM1 cone-rod dystrophy" "cone-rod dystrophy type 12" "CORD12" @@ -150580,8 +150584,8 @@ "Günther disease" "Congenital Erythropoietic Porphyria" "cutaneous porphyria" - "blood serum protein-tyrosine phosphatase mitochondrial 1 amount" "Osteopenia - intellectual disability - sparse hair" + "blood serum protein-tyrosine phosphatase mitochondrial 1 amount" "prostate adenosquamous carcinoma" "prostate gland adenosquamous carcinoma" "adenosquamous carcinoma of the prostate" @@ -151143,8 +151147,8 @@ "mixed germ cell tumour of the ovary" "ovarian mixed germ cell tumour" "mixed germ cell tumour of ovary" - "trehalose measurement" "blood serum low-density lipoprotein receptor class A domain-containing protein 3 amount" + "trehalose measurement" "X-linked Ohdo syndrome" "BMRS, Maat-Kievit-Brunner type" "Ohdo syndrome, X-linked, X-linked recessive" @@ -151215,9 +151219,9 @@ "salmonid viral hemorrhagic septicemia" "Hemorrhagic Septicemia, Viral" "Egtved Disease" - "blood serum gephyrin amount" "Intellectual deficiency - epilepsy - endocrine disorders" "BFLS" + "blood serum gephyrin amount" "blood serum TIMELESS-interacting protein amount" "megaconial type congenital muscular dystrophy" "congenital muscular dystrophy with mitochondrial structural abnormalities" @@ -151409,6 +151413,7 @@ "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" "peripheral neuropathy, Fiskerstrand type" "PHARC syndrome" + "Genetic DSD of gynecological interest" "disease, neurologic autoimmune" "neurologic autoimmune diseases" "neurologic autoimmune disease" @@ -151428,7 +151433,6 @@ "diseases, neurologic autoimmune" "autoimmune disease of nervous system" "autoimmune disease, neurologic" - "Genetic DSD of gynecological interest" "pvRSA/HF" "nervus ischiadicus" "nervus sciaticus" @@ -151644,9 +151648,9 @@ "Cardiomyopathic lentiginosis" "3alpha,12alpha-dihydroxy-5beta-cholan-24-oate" "deoxycholate" + "outer ear prominence" "short stature, hearing loss, retinitis pigmentosa, and distinctive facies" "retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome" - "outer ear prominence" "papillary squamous carcinoma" "papillary squamous cell carcinoma" "papillary epidermoid cell carcinoma" @@ -152132,12 +152136,12 @@ "4th arch artery" "fourth aortic arch" "AA4" - "Teebi-Kaurah syndrome" "Del(14)(q11.2)" "chromosome 14q11-q22 deletion syndrome, isolated cases" "monosomy 14q11.2" "14q11.2 microdeletion syndrome" "chromosome 14q11-q22 deletion syndrome" + "Teebi-Kaurah syndrome" "Albright hereditary osteodystrophy-like syndrome" "monosomy 2q37-qter" "brachydactyly intellectual disability syndrome" @@ -152705,6 +152709,7 @@ "GNPAT deficiency" "glyceronephosphate O-acyltransferase deficiency" "blood serum cyclin-dependent kinase 4 inhibitor B amount" + "polymerase chain reaction" "epithelial system - sensu C elegans" "dermal system" "integument" @@ -152713,7 +152718,6 @@ "Hautsystem" "tegument" "dermoid system" - "polymerase chain reaction" "anemia normocytic" "normocytic Anemia" "normocytic Anaemia" @@ -152763,10 +152767,6 @@ "encephalopathy, progressive, with amyotrophy and optic atrophy" "blood serum flavin-containing monooxygenase 3 amount" "blood serum leucine-rich repeat transmembrane neuronal protein 2 amount" - "Roberts-SC phocomelia syndrome" - "SC pseudothalidomide syndrome" - "Pseudothalidomide syndrome" - "SC phocomelia" "Descemet membrane" "posterior limiting lamina of cornea" "lamina limitans posterior" @@ -152774,6 +152774,10 @@ "lamina limitans posterior corneae" "posterior limiting membrane" "Descemet's posterior elastic lamina" + "Roberts-SC phocomelia syndrome" + "SC pseudothalidomide syndrome" + "Pseudothalidomide syndrome" + "SC phocomelia" "immature gamma-delta T lymphocyte" "immature gamma-delta T-cell" "immature gamma-delta T-lymphocyte" @@ -152868,8 +152872,8 @@ "chondromalacia, systemic" "Polychondritis, Relapsing" "Myopic maculopathy" - "myopic maculopathy" "myopic macular degeneration" + "myopic maculopathy" "carcinoma of colon" "colon cancer" "colon carcinoma" @@ -153299,9 +153303,9 @@ "von Willebrands Diseases" "Tibial pseudoarthrosis" "blood serum NEDD8 protein amount" + "hydrocele testis" "Del(14)(q24.1q24.3)" "monosomy 14q24.1q24.3" - "hydrocele testis" "undifferentiated ovarian carcinoma" "ovary undifferentiated carcinoma" "undifferentiated carcinoma of ovary" @@ -153324,6 +153328,7 @@ "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" "mental retardation, autosomal dominant type 23" "Muscle fibre actin filament accumulation" + "(15Z)-12,18-dihydroxy-13,19-didehydrosenecionan-11,16-dione" "chromosome 16p13.3 duplication syndrome" "16p13.3 microduplication syndrome" "dup(16)(p13.3)" @@ -153332,7 +153337,6 @@ "telomeric duplication 16p" "distal duplication 16p" "chromosome 16p13.3 duplication syndrome, isolated cases" - "(15Z)-12,18-dihydroxy-13,19-didehydrosenecionan-11,16-dione" "hairy throat syndrome" "Tsukahara-Kajii syndrome" "hereditary sensory and autonomic neuropathy type IB" @@ -153548,11 +153552,11 @@ "RCC_7860" "blood serum vesicle-trafficking protein SEC22a amount" "consortium_member" - "blood serum leukocyte cell-derived chemotaxin-2 amount" "nasal canal" "olfactory cavity" "nasal pit" "nasal cavity" + "blood serum leukocyte cell-derived chemotaxin-2 amount" "Abortion, Incomplete" "regulation of leucocyte activation" "regulation of immune cell activation" @@ -153683,8 +153687,8 @@ "Index, Toe Brachial" "Ankle-Brachial Index" "Ankle-Brachial Indices" - "Toe Brachial Indices" "Indices, Toe-Brachial" + "Toe Brachial Indices" "ABPI" "Brachial Index, Ankle" "Index, Ankle Brachial" @@ -154227,10 +154231,10 @@ "CDG-IIg" "Carbohydrate deficient glycoprotein syndrome type IIg" "Knee pain" - "blood serum large ribosomal subunit protein P2 amount" "Erythrocyte Corpuscular Hemoglobin Concentration Distribution Width" "Corpuscular HGB Conc Distribution Width" "CHDW" + "blood serum large ribosomal subunit protein P2 amount" "Rhamphochromis 'chilingali'" "O-linoleyl-L-carnitine" "17p11.2 microduplication syndrome" @@ -154268,8 +154272,8 @@ "Keratosis palmoplantaris varians of Wachters" "Striate palmoplantar keratoderma" "Keratosis palmoplantaris striata et areata" - "parotid gland disease" "disorder of parotid gland" + "parotid gland disease" "disease or disorder of parotid gland" "parotid disorder" "disease of parotid gland" @@ -154711,12 +154715,12 @@ "Congenital central alveolar hypoventilation syndrome" "CCHS" "Ondine curse" - "apocrine carcinoma of breast" "apocrine adenocarcinoma of breast" "apocrine carcinoma of the breast" "apocrine breast carcinoma" "breast apocrine carcinoma" "breast apocrine adenocarcinoma" + "apocrine carcinoma of breast" "Brunzell syndrome" "BSCL" "Lipoatrophic diabetes" @@ -154846,13 +154850,13 @@ "carcinoma, renal cell, malignant" "renal cell adenocarcinoma" "HCC-2998" - "syringoma of mammalian vulva" - "mammalian vulva syringoma" - "vulvar syringoma" "ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" "immunodeficiency 38" "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15" "MSMD due to complete ISG15 deficiency" + "syringoma of mammalian vulva" + "mammalian vulva syringoma" + "vulvar syringoma" "nevus sebaceous or wooly hair nevus, somatic" "nonepidermolytic keratinocytic nevus" "Epidermal Nevus" @@ -155332,8 +155336,8 @@ "anaplasmoses" "thymic malignant germ cell tumor" "mediastinal malignant germ cell tumor" - "malignant mediastinal germ cell tumor" "malignant mediastinal germ cell tumour" + "malignant mediastinal germ cell tumor" "thymic malignant germ cell tumour" "mediastinal germ cell tumor, malignant" "avian tuberculosis" @@ -155561,8 +155565,8 @@ "cranial nerve II astrocytoma (excluding glioblastoma)" "astrocytoma of the optic nerve" "optic nerve astrocytoma" - "blood serum general transcription factor IIE subunit 1 amount" "transcriptional profiling" + "blood serum general transcription factor IIE subunit 1 amount" "craniosynostosis type 4" "craniosynostosis 4" "ERF craniosynostosis" @@ -156055,10 +156059,10 @@ "Proximally placed thumbs" "Attachment of thumb close to wrist" "blood serum caspase recruitment domain-containing protein 9 amount" - "blood serum immediate early response gene 2 protein amount" "acrylamide" "Acrylamide" "prop-2-enamide" + "blood serum immediate early response gene 2 protein amount" "Deafness NOS (finding)" "Bilateral deafness (finding)" "Complete deafness (finding)" @@ -156074,12 +156078,12 @@ "keratosis palmoplantaris-esophageal carcinoma syndrome" "Bennion-Patterson syndrome" "Howell-Evans syndrome" + "Canton S" "Cryptococcus neoformans caused infectious meningitis" "Cryptococcal meningitis" "Cryptococcal meningitis (disorder)" "Cryptococcus neoformans infectious meningitis" "Meningitis, Cryptococcal" - "Canton S" "blood serum tRNA 2'-phosphotransferase 1 amount" "SCA10" "spinocerebellar ataxia type 10" @@ -156293,6 +156297,11 @@ "astrocytic glia" "GM17136 cell" "Xenium" + "Beriberi" + "Beri Beri" + "thiamine deficiency" + "beriberi" + "vitamin B1 deficiency" "benign parathyroid gland neoplasm" "parathyroid tumour benign" "benign tumour of the parathyroid gland" @@ -156313,11 +156322,6 @@ "benign neoplasm of the parathyroid gland" "benign neoplasm of parathyroid" "benign neoplasm of the parathyroid" - "Beriberi" - "Beri Beri" - "thiamine deficiency" - "beriberi" - "vitamin B1 deficiency" "prolactin secreting neoplasm of the pituitary" "prolactin secreting pituitary tumor" "prolactin secreting pituitary gland tumour" @@ -156360,14 +156364,14 @@ "self-transcribing active regulatory region sequencing" "Van Maldergem syndrome" "blood serum bone morphogenetic protein 4 amount" - "Salmeterol" - "CHRF-288-11" "MYXEDEMA" "myxoedema" "Myxedema (disorder)" "Myxedema" "myxedema" "Myxoedema" + "Salmeterol" + "CHRF-288-11" "combined oxidative phosphorylation deficiency type 14" "COXPD14" "combined oxidative phosphorylation deficiency caused by mutation in FARS2" @@ -156697,8 +156701,8 @@ "neoplasm of mesonephric duct" "mesonephric tumor" "mesonephric duct neoplasm" - "mesonephric duct tumour" "Wolffian duct tumour" + "mesonephric duct tumour" "tumour of mesonephric duct" "mesonephric neoplasm" "mesonephric tumour" @@ -156747,8 +156751,8 @@ "Gait instability" "8-{(1S,5S)-4-oxo-5-[(2Z)-pent-2-en-1-yl]cyclopent-2-en-1-yl}octanoic acid" "(15Z)-12-Oxophyto-10,15-dienoic acid" - "blood Arg-Phe amount" "dihydropteridine reductase activity" + "blood Arg-Phe amount" "vortex_mixer" "esophagus disease" "esophagus disease or disorder" @@ -156983,8 +156987,8 @@ "Alphavirus caused disease or disorder" "Alphavirus infectious disease" "M14 cell" - "Frydman-Cohen-Karmon syndrome" "(2S)-3-(2-mercapto-1H-imidazol-5-yl)-2-(trimethylazaniumyl)propanoate" + "Frydman-Cohen-Karmon syndrome" "blood serum pyruvate carboxylase, mitochondrial amount" "flower morphogenesis stage" "COI" @@ -157554,8 +157558,8 @@ "cardiac tuberculosis" "cardiovascular tuberculosis" "benign choroid plexus tumour" - "benign choroid plexus neoplasm" "benign tumour of the choroid plexus" + "benign choroid plexus neoplasm" "benign choroid plexus tumours" "benign tumor of the choroid plexus" "benign choroid plexus tumors" @@ -157598,12 +157602,6 @@ "Holmes-Collins syndrome" "forefin skeleton" "MEPCA" - "vitreous body disease" - "vitreous body disease or disorder" - "vitreous body disorder" - "disorder of vitreous body" - "disease of vitreous body" - "disease or disorder of vitreous body" "Arterial Diseases, External Carotid" "Arterial Diseases, Common Carotid" "carotid artery disorder" @@ -157638,6 +157636,12 @@ "Arterial Disease, Carotid" "Disorders, Carotid Artery" "INTERNAL CAROTID ARTERY DIS" + "vitreous body disease" + "vitreous body disease or disorder" + "vitreous body disorder" + "disorder of vitreous body" + "disease of vitreous body" + "disease or disorder of vitreous body" "blood serum StAR-related lipid transfer protein 5 amount" "caudate putamen" "caudateputamen" @@ -157962,10 +157966,10 @@ "flat cornea" "eosinophilia-myalgia syndrome" "eosinophilia myalgia syndrome" - "Muscular weakness" - "Muscle weakness" "LECD" "Band-shaped and whorled microcystic dystrophy of the corneal epithelium" + "Muscular weakness" + "Muscle weakness" "Alpers progressive sclerosing poliodystrophy" "Alper's syndrome" "progressive sclerosing poliodystrophy (disorder)" @@ -158036,11 +158040,11 @@ "blood vessel of trachea" "Lateral geniculate body" "Lateral geniculate complex" - "foliage leaf, leaf, vascular, vascular leaves" "type II NKT cell" "type II NK T-lymphocyte" "type II NK T-cell" "type II NK T lymphocyte" + "foliage leaf, leaf, vascular, vascular leaves" "BJ-ELR, BJ ELR" "blood serum zinc finger protein 175 amount" "Pancreatic and cerebellar agenesis" @@ -158580,10 +158584,10 @@ "central conducting lymphatic anomaly" "lymphatic malformation 12" "LMPHM12" - "blood serum ubiquitin domain-containing protein 2 amount" "Pierre Robin sequence - congenital heart defect - talipes" "Pierre Robin syndrome - congenital heart defect - talipes" "Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava" + "blood serum ubiquitin domain-containing protein 2 amount" "Postoperative Nausea and Vomiting" "blood serum protein kinase C and casein kinase substrate in neurons protein 3 amount" "fl" @@ -158688,6 +158692,7 @@ "Hypoplastic scapula" "Scapular hypoplasia" "blood serum zymogen granule membrane protein 16 amount" + "LDS6" "carcinoma of endometrium" "endometrial carcinoma (disease)" "endometrial carcinoma" @@ -158695,7 +158700,6 @@ "carcinoma, endometrial, malignant" "endometrial cancer" "carcinoma of the endometrium" - "LDS6" "Immunodeficiency, severe combined" "blood serum glycogenin-2 amount" "multiple exostosis syndromes" @@ -158722,6 +158726,7 @@ "Skin hyperpigmentation" "Cutaneous hyperpigmentation" "blood serum cancer/testis antigen family 45 member A1 amount" + "benign tumor of appendix" "benign tumor of the appendix" "vermiform appendix benign neoplasm" "benign appendix tumor" @@ -158730,7 +158735,6 @@ "benign tumour of the appendix" "benign appendix neoplasm" "benign neoplasm of the appendix" - "benign tumor of appendix" "cancer of paranasal sinus" "accessory sinus cancer" "carcinoma of the paranasal sinus" @@ -158876,12 +158880,12 @@ "nephrotic syndrome-steroid-resistant" "steroid-resistant nephrotic syndrome" "blood serum protein-lysine N-methyltransferase EEF2KMT amount" + "Karandikar-Maria-Kamble syndrome" "blood serum programmed cell death 6-interacting protein amount" "infantile genetic agranulocytosis" "genetic infantile agranulocytosis" "congenital neutropenia" "blood fucose amount" - "Karandikar-Maria-Kamble syndrome" "blood serum allograft inflammatory factor 1-like amount" "ectodermal dysplasia with natal teeth, Turnpenny type" "Jansen Type Metaphyseal Chondrodysplasia" @@ -159025,9 +159029,9 @@ "LCH" "Herbaspirillum seropedicae strain SmR1" "Herbaspirillum seropedicae str. SmR1" - "macrocephaly-intellectual disability-autism syndrome" "Ficoll gradient" "Ficoll WBC Isolation" + "macrocephaly-intellectual disability-autism syndrome" "MRSA Pneumonia" "Methicillin-Resistant Staphylococcus Aureus Pneumonia" "Methicillin-Resistant Staphylococcus aureus Pneumonia" @@ -159052,12 +159056,12 @@ "Salmonella enterica VI" "psoriatic arthritis, susceptibility" "psoriatic arthritis, susceptibility to" - "blood serum immunoglobulin superfamily DCC subclass member 4 amount" "pseudo-Morquio disease type I" "DMC disease" "Dyggve-Melchior-Clausen syndrome" "Dyggve Melchior Clausen syndrome" "Dyggve-Melchior-Clausen disease" + "blood serum immunoglobulin superfamily DCC subclass member 4 amount" "Dubin Johnson syndrome" "chronic idiopathic jaundice" "Hyperbilirubinemia type 2" @@ -159353,8 +159357,8 @@ "mycobacterial infection" "blood serum tenascin-X amount" "blood serum SLIT and NTRK-like protein 4 amount" - "bone tissue lymphoma" "primary lymphoma of bone" + "bone tissue lymphoma" "lymphoma of the bone" "lymphoma of bone tissue" "primary lymphoma of the bone" @@ -159512,13 +159516,13 @@ "Del(X)(p21)" "pM" "blood serum ATP synthase-coupling factor 6, mitochondrial amount" + "GM17181 cell" "inflammation of urethra" "urethritis (disease)" "urethra inflammation" "urethritis" "non-gonococcal urethritis" "Urethritides" - "GM17181 cell" "benign neoplasm of the spinal cord" "benign tumour of spinal cord" "spinal cord benign neoplasm" @@ -159672,9 +159676,9 @@ "Congenital erythrocytosis due to erythropoietin receptor mutation" "Familial erythrocytosis" "Primary congenital erythrocytosis" - "blood serum glycine N-acyltransferase-like protein 2 amount" "Norman-Landing disease" "Infantile GM1 gangliosidosis" + "blood serum glycine N-acyltransferase-like protein 2 amount" "hypomagnesemia, seizures, and intellectual disability" "hypomagnesemia, seizures, and mental retardation" "disaccharide intolerance with minimal starch tolerance" @@ -159801,13 +159805,13 @@ "C-like syndrome" "Opitz trigonocephaly-like syndrome" "MRGH" + "Vermian atrophy" + "Atrophy of the cerebellar vermis" + "Atrophy of cerebellar vermis" "Del(12)(q14)" "Deletion 12q14" "Monosomy 12q14" "Osteopoikilosis - short stature - intellectual disability" - "Vermian atrophy" - "Atrophy of the cerebellar vermis" - "Atrophy of cerebellar vermis" "mental retardation, X-linked, syndromic 9" "intellectual disability, X-linked, syndromic 9" "MRXS9" @@ -159975,8 +159979,8 @@ "all-trans-retinoic acid" "(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid" "atom" - "blood serum interferon-inducible double-stranded RNA-dependent protein kinase activator A amount" "Yorifuji-Okuno syndrome" + "blood serum interferon-inducible double-stranded RNA-dependent protein kinase activator A amount" "nuclear RNA extract" "Okihiro syndrome due to monosomy 20q13" "Okihiro syndrome due to del(20)(q13)" @@ -159988,9 +159992,9 @@ "cementum" "cementum of tooth" "cement" + "femoral intercalary meromelia, bilateral" "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome" "SOLAMEN syndrome" - "femoral intercalary meromelia, bilateral" "embryonic ectoderm" "disorder of gastric function" "disorder of function of stomach" @@ -160660,8 +160664,8 @@ "Bartter syndrome type III" "Bartter syndrome type 3" "Adult Bartter syndrome" - "blood serum copine-7 amount" "Extreme thirst" + "blood serum copine-7 amount" "blood serum neurexophilin-2 amount" "Premature coronary artery disease" "Mongolian Macula" @@ -161075,12 +161079,12 @@ "malnourished" "blood serum B-cell linker protein amount" "TAG 54:2" - "SPG48" "liver fibrosarcoma (disease)" "liver fibrosarcoma" "fibrosarcoma of liver" "hepatic fibrosarcoma" "fibrosarcoma of the liver" + "SPG48" "blood serum DNA (cytosine-5)-methyltransferase 3-like amount" "blood serum prostaglandin-H2 D-isomerase amount" "bile duct neoplasm" @@ -161337,8 +161341,8 @@ "mesoblast" "mesoderm cell" "hexadecanoate" - "blood serum CCAAT/enhancer-binding protein epsilon amount" "extracutaneous mastocytoma" + "blood serum CCAAT/enhancer-binding protein epsilon amount" "HIV Wasting Syndrome" "HIV wasting syndrome" "Human immunodeficiency virus infection wasting syndrome" @@ -161369,8 +161373,8 @@ "distal anoctaminopathy" "Miyoshi muscular dystrophy type 3" "MMD3" - "diffuse large B-cell lymphoma of colorectum" "colorectal diffuse large B-cell lymphoma" + "diffuse large B-cell lymphoma of colorectum" "colorectum diffuse large B-cell lymphoma" "colorectal DLBCL" "UACC.62" @@ -161427,12 +161431,12 @@ "acute leukemia of ambiguous lineage" "mixed lineage acute leukaemia" "acute leukaemia of indeterminate lineage" + "SIFD syndrome" + "SIFD" "LADD syndrome" "Levy-Hollister syndrome" "Lacrimoauriculoradiodental syndrome" "LARD syndrome" - "SIFD syndrome" - "SIFD" "X-linked dominant intellectual disability - epilepsy" "blood serum AP-1 complex subunit gamma-like 2 amount" "set of bones of cranium" @@ -161625,14 +161629,14 @@ "blood serum probable E3 ubiquitin-protein ligase TRIML1 amount" "Spastic quadriplegic cerebral palsy" "Inherited congenital spastic quadriplegia" + "childhood adrenal gland pheochromocytoma" + "malignant childhood adrenal gland pheochromocytoma" "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" "EDS, kyphoscoliotic and hearing loss type" "EDS with progressive kyphoscoliosis, myopathy, and deafness" "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" - "childhood adrenal gland pheochromocytoma" - "malignant childhood adrenal gland pheochromocytoma" "L-seryl-L-tyrosyl-L-seryl-L-methionyl-L-alpha-glutamyl-L-histidyl-L-phenylalanyl-L-arginyl-L-tryptophylglycyl-L-lysyl-L-prolyl-L-valylglycyl-L-lysyl-L-lysyl-L-arginyl-L-arginyl-L-prolyl-L-valyl-L-lysyl-L-valyl-L-tyrosyl-L-prolyl-L-alpha-aspartylglycyl-L-alanyl-L-alpha-glutamyl-L-alpha-aspartyl-L-alpha-glutamyl-L-seryl-L-alanyl-L-alpha-glutamyl-L-alanyl-L-phenylalanyl-L-prolyl-L-leucyl-L-alpha-glutamyl-L-phenylalanine" "Corticotropin" "blood serum adhesion G-protein coupled receptor D1 amount" @@ -162569,8 +162573,8 @@ "benign epicardial tumor" "benign neoplasm of the epicardium" "benign epicardial tumour" - "benign tumor of epicardium" "benign epicardial neoplasm" + "benign tumor of epicardium" "extragonadal seminoma" "extragonadal primary seminoma" "primary extragonadal seminoma" @@ -162592,8 +162596,8 @@ "zone of skin cancer" "malignant skin tumor" "malignant skin tumour" - "Milk Hypersensitivity" "Mathieu-De Broca-Bony syndrome" + "Milk Hypersensitivity" "Kearns Sayre Syndrome" "Kearns-Sayre syndrome" "MSR" @@ -162660,14 +162664,14 @@ "neoplasm of retroperitoneal space" "retroperitoneal space neoplasm" "tumour of retroperitoneal space" + "phosphatidylcholine 36:0" + "blood serum betaine--homocysteine S-methyltransferase 2 amount" "subcutis" "inflammation of subcutaneous adipose tissue" "Subcutaneous tissue" "subcutaneous adipose tissue inflammation" "Subcutaneous adipose tissue" "panniculitis" - "phosphatidylcholine 36:0" - "blood serum betaine--homocysteine S-methyltransferase 2 amount" "blood serum GDP-mannose 4,6 dehydratase amount" "circulatory system" "Systems, Cardiovascular" @@ -162835,6 +162839,7 @@ "CORL-23" "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis" "rapidly progressive glomerulonephritis, chronic" + "blood serum centrosomal protein of 41 kDa amount" "Glycogenosis type Ib" "G6P translocase deficiency" "Glycogenosis due to glucose-6-phosphatase transport defect" @@ -162848,7 +162853,6 @@ "GSD due to G6P deficiency type b" "Glycogenosis due to glucose-6-phosphatase deficiency type b" "GSD type 1b" - "blood serum centrosomal protein of 41 kDa amount" "legionnaire disease, susceptibility to" "hydrogen pyridine-2,3-dicarboxylate" "combined lung cancer" @@ -163222,13 +163226,13 @@ "benign reproductive system neoplasm" "blood serum perilipin-3 amount" "PAPB" - "Monosomy 9p13" - "Del(9)(p13)" "pancreatic adenocarcinoma" "adenocarcinoma - pancreas" "pancreas adenocarcinoma" "adenocarcinoma of pancreas" "adenocarcinoma of the pancreas" + "Monosomy 9p13" + "Del(9)(p13)" "blood serum large ribosomal subunit protein mL52 amount" "pilocytic astrocytoma of the cerebellum" "cerebellum pilocytic astrocytoma" @@ -163363,10 +163367,10 @@ "inherited disorder of thyroid metabolism" "rare inborn error of thyroid hormone metabolic process" "inborn thyroid hormone metabolic process disorder" - "necrobiosis lipoidica" "blood serum Bcl-2-like protein 10 amount" "aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome" "aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome" + "necrobiosis lipoidica" "Indian" "Hindu" "Asian Indians" @@ -163377,17 +163381,17 @@ "Crystalline stromal dystrophy" "Schnyder crystalline corneal dystrophy" "lateral cord surface glia" - "ML DmD16 c3" - "DmD16_c3" - "D16-c3" - "DmD16-c3" - "ML_DmD16_c3" "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome" "Cernunnos XLFD" "NHEJ1 deficiency" "Cernunnos-XLF deficiency" "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome" "Cernunnos deficiency" + "ML DmD16 c3" + "DmD16_c3" + "D16-c3" + "DmD16-c3" + "ML_DmD16_c3" "GVHDS" "adult visceral muscle" "JEB2B" @@ -163824,11 +163828,11 @@ "epidermolysis bullosa hereditaria" "RGC6" "RCB2854" + "IDMDC" "Rash acneiform" "acneiform eruptions" "acneiform eruption" "acneiform dermatitis" - "IDMDC" "peripheral nerve lesion of ulnar nerve" "ulnar nerve peripheral nerve lesion" "lesion of ulnar nerve" @@ -163954,10 +163958,10 @@ "ALG2-congenital disorder of glycosylation" "carbohydrate deficient glycoprotein syndrome type Ii" "congenital disorder of glycosylation type 1i" - "trapezoidocephaly-synostosis syndrome" "intellectual disability-sparse hair-brachydactyly syndrome" "Nicolaides-Baraitser syndrome" "SMARCA2-related BAFopathy" + "trapezoidocephaly-synostosis syndrome" "drug induced hepatotoxicity" "Toxic Hepatitis" "drug-induced liver injury" @@ -164254,8 +164258,8 @@ "colorectal carcinoid tumor" "grade 1 neuroendocrine neoplasm of colorectum" "colorectum neuroendocrine tumor, well differentiated, low grade" - "colorectum NET G1" "colorectal neuroendocrine tumor G1" + "colorectum NET G1" "tertiary bronchus" "nodule" "MRD26" @@ -164315,11 +164319,10 @@ "hepatopancreatic ampulla adenosquamous carcinoma" "NCI-H322" "H322T" - "Friend Virus B NIH" - "FVB/N-Pde6b^rd1" "Agnosia" "T.DP69+.Th" - "LGMD due to POMK deficiency" + "Friend Virus B NIH" + "FVB/N-Pde6b^rd1" "myotonic dystrophy caused by mutation in CNBP" "ricker syndrome" "proximal myotonic dystrophy" @@ -164327,6 +164330,7 @@ "ricker disease" "proximal myotonic myopathy" "myotonic dystrophy type 2" + "LGMD due to POMK deficiency" "blood serum UDP-glucuronosyltransferase 1-6 amount" "psychogenic amnesia" "Cafe au lait spots" @@ -164758,11 +164762,11 @@ "PTORCH3" "PSEUDO-TORCH SYNDROME 3" "blood serum hepatocyte nuclear factor 4-alpha amount" + "Hemoglobin G Coushatta/Total Hemoglobin" + "HBGCHTHB" "Acrocephalosyndactyly type 3" "ACS3" "SCS" - "Hemoglobin G Coushatta/Total Hemoglobin" - "HBGCHTHB" "avocado" "Persea americanum" "anti-ANO2 antibody" @@ -164877,8 +164881,8 @@ "Schindler disease type 1" "Schindler disease, type III" "NAGA deficiency type 1" - "Proximal tibial hypopolasia" "MRTTTC549" + "Proximal tibial hypopolasia" "Primrose syndrome" "intellectual disability-cataracts-calcified pinnae-myopathy syndrome" "SOD" @@ -164904,9 +164908,9 @@ "ovary epithelial neoplasm" "radial nerve peripheral neuropathy" "peripheral neuropathy of radial nerve" - "SPG34" "Abnormal distribution of hair" "Abnormal hair pattern" + "SPG34" "post operative acute renal failure" "post operative acute kidney failure" "post-operative acute renal failure" @@ -165421,6 +165425,7 @@ "blood serum polypeptide N-acetylgalactosaminyltransferase 11 amount" "blood serum lipocalin-1 amount" "blood serum carbonic anhydrase 5B, mitochondrial amount" + "SPOAN" "intellectual developmental disorder, autosomal recessive 57" "intellectual disability, autosomal recessive type 57" "autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7" @@ -165429,7 +165434,6 @@ "mental retardation, autosomal recessive type 57" "MBOAT7 autosomal recessive non-syndromic intellectual disability" "mental retardation, autosomal recessive 57" - "SPOAN" "oculocutaneous albinism, type VIII" "OCA8" "oculocutaneous albinism, type 8" @@ -165575,13 +165579,13 @@ "melanoma, cutaneous malignant, susceptibility to, 3" "melanoma, cutaneous malignant, susceptibility to, type 3" "melanoma, cutaneous malignant, 3" + "nerve plexus disorder" "disease or disorder of nerve plexus" "disease of nerve plexus" "nerve plexus disease" "disorder of nerve plexus" "plexopathy" "nerve plexus disease or disorder" - "nerve plexus disorder" "blood serum ADP-ribosylation factor-like protein 1 amount" "mitral valve prolapse, myxomatous 2" "MMVP2" @@ -166361,10 +166365,10 @@ "Stoll-Lévy-Francfort syndrome" "blood serum procollagen galactosyltransferase 2 amount" "Pseudofolliculitis barbae" + "Autosomal recessive early-onset IBD" "rhinoscleroma" "Rhinoscleroma" "Rhinoscleroma (disorder)" - "Autosomal recessive early-onset IBD" "bilateral frontoparietal polymicrogyria" "Abnormality of vitamin metabolism" "age frontotemporal dementia symptoms begin" @@ -166496,6 +166500,7 @@ "Abortion, Septic" "Septic abortion (disorder)" "Teunissen-Cremers syndrome" + "mLOX" "blood serum microfibril-associated glycoprotein 3 amount" "blood serum interleukin-17 receptor D amount" "blood serum S-arrestin amount" @@ -166587,12 +166592,12 @@ "Balaena glacialis" "northern right whale" "North Atlantic right whale" + "blood serum epididymal-specific lipocalin-10 amount" "FIC1 deficiency" "cholestasis, progressive familial intrahepatic, type 1" "PFIC1" "cholestasis, progressive familial intrahepatic 1" "Byler disease" - "blood serum epididymal-specific lipocalin-10 amount" "Hemin" "hemin" "chlorido(protoporphyrinato)iron(III)" @@ -167028,8 +167033,8 @@ "ovarian mucinous neoplasm, malignant" "malignant ovarian mucinous tumour" "malignant ovarian mucinous tumor" - "rac-N-[(2S,3S)-1-benzyl-2-methylpyrrolidin-3-yl]-5-chloro-2-methoxy-4-(methylamino)benzamide" "blood serum tumor necrosis factor alpha-induced protein 3 amount" + "rac-N-[(2S,3S)-1-benzyl-2-methylpyrrolidin-3-yl]-5-chloro-2-methoxy-4-(methylamino)benzamide" "endomyometritis" "blood serum appetite-regulating hormone amount" "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency" @@ -167092,13 +167097,13 @@ "hyperlipidemia (disease)" "Abnormality of the toenails" "Abnormality of the toenail" - "response to Opdivo" "Occidental" "Caucasians" "White" "Whites" "European" "Caucasoid" + "response to Opdivo" "spinocerebellar ataxia 42" "SCA42" "spinocerebellar ataxia type 42" @@ -167270,8 +167275,8 @@ "Carbohydrate deficient glycoprotein syndrome type IIb" "valvula cerebellum" "blood serum oligodendrocyte-myelin glycoprotein amount" - "blood serum insulin-like growth factor-binding protein 3 amount" "Jones syndrome" + "blood serum insulin-like growth factor-binding protein 3 amount" "jejunal neuroendocrine neoplasm" "C9ORF72-related Huntington disease-like syndrome" "C9ORF72-related Huntington disease phenocopy" @@ -167369,6 +167374,7 @@ "B2 B cell" "B2 B lymphocyte" "blood serum cadherin-17 amount" + "neoplasm of the dermis" "dermis tumor" "dermis neoplasm" "dermis neoplasm (disease)" @@ -167380,7 +167386,6 @@ "tumour of dermis" "tumour of the dermis" "dermal tumor" - "neoplasm of the dermis" "tumour of the iris" "tumor of the iris" "neoplasm of iris" @@ -167643,7 +167648,6 @@ "distal duplication 4p" "trisomy 4pter" "telomeric duplication 4p" - "TAR syndrome" "blood serum small integral membrane protein 13 amount" "medullary carcinoma of thyroid gland" "C cell carcinoma" @@ -167665,6 +167669,7 @@ "medullary thyroid carcinoma" "medullary carcinoma" "GM17251 cell" + "TAR syndrome" "5-C" "CMT2HH" "age colorectal cancer symptoms begin" @@ -168947,9 +168952,9 @@ "decreased anxiety" "reduced anxiety" "blood serum G-protein coupled receptor 135 amount" - "blood serum PRA1 family protein 3 amount" "mitochondrial" "Mitochondrial" + "blood serum PRA1 family protein 3 amount" "blood serum Phosphatidylethanolamine (O-18:1_18:2) amount" "Pachycladon Hook.f." "phenyl hydrogen sulfate" @@ -168960,8 +168965,6 @@ "congenital pulmonary lymphangiectasis" "Diffuse Pulmonary Lymphangiomatosis" "pulmonary lymphangiomatosis" - "papillary cystadenoma" - "cystadenoma, papillary, benign" "Incorrect relation between upper and lower dental arches" "Misalignment of upper and lower dental arches" "Malocclusion of teeth" @@ -168971,6 +168974,8 @@ "Malalignment of upper and lower dental arches" "Bilateral crossbite" "Malocclusion" + "papillary cystadenoma" + "cystadenoma, papillary, benign" "(1->3)-beta-D-glucopyranan" "blood serum 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 amount" "genochondromatosis" @@ -169487,12 +169492,12 @@ "Magnesium deficiency" "Magnesium Deficiency" "blood serum ski-like protein amount" - "chorea, benign familial" "iridogoniodysgenesis caused by mutation in PITX2" "anterior segment dysgenesis 4" "PITX2 iridogoniodysgenesis" "IRID2" "iridogoniodysgenesis, type 2" + "chorea, benign familial" "blood serum selenocysteine lyase amount" "localisation-related epilepsy" "focal epilepsy" @@ -169518,7 +169523,6 @@ "occlusion and stenosis of carotid artery" "carotid artery segment occlusion precerebral artery" "occlusion precerebral artery of carotid artery segment" - "U3118" "dental disorder" "calcareous tooth disease" "calcareous tooth disease or disorder" @@ -169528,6 +169532,7 @@ "disease or disorder of calcareous tooth" "dental disease" "disorder of calcareous tooth" + "U3118" "arthrocutaneouveal granulomatosis" "Blau syndrome" "paediatric granulomatous arthritis" @@ -169704,9 +169709,9 @@ "FCAS2" "non-DS-AMKL" "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" + "Jaffe-Campanacci syndrome" "thrombophilia 10 due to heparin cofactor II deficiency" "heparin cofactor 2 deficiency" - "Jaffe-Campanacci syndrome" "Primary ILD specific to childhood due to pulmonary surfactant protein anomalies" "tricuspid valve prolapse (disease)" "Tricuspid valve prolapse (disorder)" @@ -169860,8 +169865,6 @@ "HARDEROPORPHYRIA" "geographic atrophy" "dry macular degeneration" - "age major depressive disorder symptoms begin" - "age at onset of major depressive disorder" "oesophagus squamous papilloma" "esophagus squamous cell papilloma" "squamous cell papilloma of the esophagus" @@ -169870,6 +169873,8 @@ "esophagus squamous papilloma" "squamous cell papilloma of oesophagus" "squamous cell papilloma of the oesophagus" + "age major depressive disorder symptoms begin" + "age at onset of major depressive disorder" "blood serum alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C amount" "blood serum interleukin-27 receptor subunit alpha amount" "Mosaic variegated aneuploidy syndrome 1" @@ -170063,8 +170068,8 @@ "Valve, Mitral" "Valves, Mitral" "Valves, Bicuspid" - "CMT2N" "vLDL cholesterol measurement" + "CMT2N" "thymic atrophy" "atrophied thymus" "atrophic thymus" @@ -170184,10 +170189,10 @@ "tumor of cecum" "glycoprotein deglycosylation" "dissection of carotid artery" + "blood serum histone-lysine N-methyltransferase ASH1L amount" "Dyskeratosis congenita with bilateral exudative retinopathy" "Revesz-DeBuse syndrome" "Retinopathy-anemia-central nervous system anomalies syndrome" - "blood serum histone-lysine N-methyltransferase ASH1L amount" "Short stature - facial and skeletal anomalies - intellectual disability - macrodontia" "Spinal Cord Trauma" "SCI" @@ -170400,20 +170405,20 @@ "benign neoplasm of the synovium" "benign tumor of synovium" "benign tumour of the synovium" - "AS syndrome" - "antisynthetase syndrome" - "Anti-Jo1 syndrome" - "Anti-Synthetase Syndrome" - "anti-Jo1 syndrome" "immunodeficiency 106, susceptibility to viral infections" "IFNAR1 deficiency" "IMD106" "three spined stickleback" "three-spined stickleback" "Gasterosteus aculeatus Linnaeus, 1758" - "TAG 56:2" + "AS syndrome" + "antisynthetase syndrome" + "Anti-Jo1 syndrome" + "Anti-Synthetase Syndrome" + "anti-Jo1 syndrome" "partial duplication/triplication of chromosome 18" "partial trisomy/tetrasomy of chromosome type 18" + "TAG 56:2" "5-HTT brain serotonin transporter levels" "penis sarcoma" "sarcoma of the penis" @@ -170833,9 +170838,6 @@ "O-Methyleugenol" "O-methyleugenol" "batch" - "MM.1S cell" - "MM.1 S" - "MM.1-S" "blood serum CD9 molecule amount" "oligodendroglioma, malignant" "oligodendroglioma, anaplastic, malignant" @@ -170845,6 +170847,9 @@ "WHO grade III oligodendroglial tumour" "anaplastic oligodendroglioma" "undifferentiated oligodendroglioma" + "MM.1S cell" + "MM.1 S" + "MM.1-S" "chromosome 13q14 deletion syndrome" "monosomy type 13q14" "deletion 13q14" @@ -170856,7 +170861,6 @@ "Tricho-hepato-enteric syndrome" "Syndromatic diarrhea" "SD/THE" - "Cryptophthalmos-syndactyly syndrome" "smoldering plasma cell myeloma" "smouldering multiple myeloma" "asymptomatic myeloma" @@ -170866,6 +170870,7 @@ "smouldering Multiple myeloma/plasma cell myeloma" "smouldering myeloma" "asymptomatic plasma cell myeloma" + "Cryptophthalmos-syndactyly syndrome" "Toriello syndrome" "Lassa fever" "LF" @@ -170982,11 +170987,11 @@ "mammalian vulva eccrine carcinoma" "vulvar eccrine adenocarcinoma" "eccrine carcinoma of mammalian vulva" + "protein adhesion measurement" "Oxyhemoglobin/Total Hemoglobin" "HBOXHGB" "blood serum interleukin-28 receptor alpha chain amount" "Granular corneal dystrophy type II" - "protein adhesion measurement" "congenital junctional epidermolysis bullosa" "junctional epidermolysis bullosa" "EBJ" @@ -171005,12 +171010,12 @@ "partial monosomy of chromosome 9" "cystic, mucinous, and serous neoplasm" "FGF23 measurement" + "corneal dystrophy, endothelial, X-linked, X-linked dominant" + "XECD" "spindle cell melanoma of the uvea" "spindle cell uveal melanoma" "uveal spindle cell melanoma" "spindle cell melanoma of uvea" - "corneal dystrophy, endothelial, X-linked, X-linked dominant" - "XECD" "Vivax Malaria" "Plasmodium vivax malaria" "vivax malaria" @@ -171412,6 +171417,15 @@ "giant cell lesion of small bones" "central giant cell (reparative) granuloma" "central giant cell granuloma" + "Glycogenosis type 6B" + "Glycogen storage disease type 6B" + "Hepatic glycogen phosphorylase deficiency" + "Liver glycogen phosphorylase deficiency" + "GSD due to liver glycogen phosphorylase deficiency" + "Glycogenosis due to liver glycogen phosphorylase deficiency" + "Hers disease" + "Hepatic phosphorylase deficiency" + "GSD type 6B" "GSD due to muscle phosphorylase kinase deficiency" "GSD9D" "GSD IXd" @@ -171428,15 +171442,6 @@ "glycogenosis due to muscle phosphorylase kinase deficiency" "glycogen storage disease due to muscle phosphorylase kinase deficiency" "GSD type IXd" - "Glycogenosis type 6B" - "Glycogen storage disease type 6B" - "Hepatic glycogen phosphorylase deficiency" - "Liver glycogen phosphorylase deficiency" - "GSD due to liver glycogen phosphorylase deficiency" - "Glycogenosis due to liver glycogen phosphorylase deficiency" - "Hers disease" - "Hepatic phosphorylase deficiency" - "GSD type 6B" "schwannoma of fifth cranial nerve" "neurilemmoma of fifth cranial nerve" "neurilemmoma of the trigeminal nerve" @@ -171446,9 +171451,9 @@ "neurilemmoma of trigeminal nerve" "trigeminal neurilemmoma" "schwannoma of trigeminal nerve" - "trigeminal schwannoma" "schwannoma of the trigeminal nerve" "fifth cranial nerve schwannoma" + "trigeminal schwannoma" "neurilemmoma of the fifth cranial nerve" "mother's milk" "breast milk" @@ -171528,8 +171533,8 @@ "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1" "bile acid synthesis defect, congenital, type 1" "congenital bile acid synthesis defect caused by mutation in HSD3B7" - "blood serum nuclear transcription factor Y subunit alpha amount" "desmoplastic medulloblastoma" + "blood serum nuclear transcription factor Y subunit alpha amount" "TTN-related myopathy, autosomal recessive" "thyroid cancer, nonmedullary caused by mutation in FOXE1" "FOXE1 thyroid cancer, nonmedullary" @@ -171548,7 +171553,6 @@ "LAPC9" "HCC-15" "inherited cardiac arrthythmia" - "Braddock-Carey syndrome" "GM17256 cell" "congenital bile acid synthesis defect type 5" "bile acid synthesis defect, congenital, type 5" @@ -171557,6 +171561,7 @@ "CBAS5" "ABCD3 congenital bile acid synthesis defect" "fracture-related traits" + "Braddock-Carey syndrome" "blood serum Jun dimerization protein 2 amount" "blood serum apolipoprotein L2 amount" "Francisella tularensis subsp. holarctica strain LVS" @@ -171943,11 +171948,11 @@ "Pseudomonas syringae tomato" "Pseudomonas syringae (PV. TOMATO)" "OOMD11" + "Hip dysplasia - enchondromata - ecchondroma" "Monosomy 2p21" "2p21 deletion" "Del(2)(p21)" "blood serum aldehyde dehydrogenase X, mitochondrial amount" - "Hip dysplasia - enchondromata - ecchondroma" "SLO syndrome" "SLOS" "7-dehydrocholesterol reductase deficiency" @@ -172634,13 +172639,13 @@ "Heterozygous otospondylomegaepiphyseal dysplasia" "Heterozygous OSMED" "Pierre Robin sequence - fetal chondrodysplasia" - "blood serum chondromodulin-1 amount" "Glossitis" "Glossitis (disorder)" "tongue inflammation" "Glossitis NOS (disorder)" "glossitis" "inflammation of tongue" + "blood serum chondromodulin-1 amount" "3-methylbenzyl alcohol" "blood serum neuroguidin amount" "blood serum guanylyl cyclase-activating protein 1 amount" @@ -173209,11 +173214,11 @@ "benign neoplasm of eyelid" "blood serum Phosphatidylcholine (18:1_0:0) amount" "uridine-cytidineuria" - "(5Z,8Z,12E,14Z)-11-hydroxyicosa-5,8,12,14-tetraenoic acid" "Mabry syndrome" "hyperphosphatasia with mental retardation syndrome" "HPMR" "hyperphosphatasia with intellectual disability syndrome" + "(5Z,8Z,12E,14Z)-11-hydroxyicosa-5,8,12,14-tetraenoic acid" "Abnormally loose or stretchable skin" "Abnormally loose or hyperelastic skin" "Syndactyly type 1 - microcephaly - intellectual disability" @@ -173736,8 +173741,8 @@ "peroxisome biogenesis disorder due to PEX2 defect" "Glyphosate" "N-(phosphonomethyl)glycine" - "disease of facial nerve" "disease or disorder of facial nerve" + "disease of facial nerve" "disorder of facial nerve" "facial nerve disease" "facial nerve disease or disorder" @@ -174128,8 +174133,8 @@ "tumor of major vestibular gland" "Bartholin gland neoplasm" "tumour of major vestibular gland" - "tumour of Bartholin's gland" "major vestibular gland tumor" + "tumour of Bartholin's gland" "major vestibular gland neoplasm (disease)" "Bartholin's gland tumor" "tumour of the Bartholin's gland" @@ -174152,6 +174157,8 @@ "blood serum DNA fragmentation factor subunit alpha amount" "blood serum integrin alpha-L amount" "blood serum large ribosomal subunit protein bL28m amount" + "Waaler-Aarskog syndrome" + "Ferlini-Ragno-Calzolari syndrome" "Microbe de la coqueluche" "Bacterium tussis-convulsivae" "Hemophilus pertussis" @@ -174168,8 +174175,6 @@ "GD III" "Gaucher disease type III" "Gaucher disease, juvenile and adult, cerebral" - "Waaler-Aarskog syndrome" - "Ferlini-Ragno-Calzolari syndrome" "blood serum dedicator of cytokinesis protein 2 amount" "particular wear debris osteolysis" "demyelinating HMSN" @@ -174853,9 +174858,9 @@ "vermiform appendix carcinoid tumour (disease)" "vermiform appendix carcinoid tumor" "appendix neuroendocrine tumour G1 (carcinoid)" - "previtillogenic ovarian follicle" "Mucopolysaccharidosis type 9" "Mucopolysaccharidosis type IX" + "previtillogenic ovarian follicle" "fallopian tube serous cystadenofibroma" "fallopian tube cystadenofibroma" "cystadenofibroma of fallopian tube" @@ -175351,12 +175356,12 @@ "statoacoustic ganglion" "statoacoustic (VIII) ganglion" "auditory ganglion" + "acrorenal syndrome" "ovarian Wilms' tumor" "ovarian Wilms tumor" "ovarian Wilms' tumour" "ovary Wilms tumor" "ovary Wilms tumour" - "acrorenal syndrome" "Iran (Islamic Republic of)"@en "Iran (Islamic Republic of)" "chromosome Xq28 duplication syndrome" @@ -175445,15 +175450,15 @@ "SSPCS" "sessile serrated polyposis cancer syndrome; SSPCS" "sessile serrated polyposis cancer syndrome" - "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF" - "breasts and/or nipples, aplasia or hypoplasia of, type 2" - "breasts and/or nipples, aplasia or hypoplasia of, 2" - "PTPRF isolated congenital breast hypoplasia/aplasia" "familial hypocalciuric hypercalcemia type 2" "hypocalciuric hypercalcemia type II" "hpocalciuric hypercalcemia, type II" "HHC2" "FHH type 2" + "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF" + "breasts and/or nipples, aplasia or hypoplasia of, type 2" + "breasts and/or nipples, aplasia or hypoplasia of, 2" + "PTPRF isolated congenital breast hypoplasia/aplasia" "blood serum histone deacetylase 6 amount" "blood serum josephin-1 amount" "alpha-beta T-cell" @@ -175737,6 +175742,7 @@ "Blind loop syndrome" "bacterial overgrowth syndrome" "stasis syndrome" + "blood serum methionine aminopeptidase 1D, mitochondrial amount" "epithelio-lymphoid tissue" "MALT" "mucosa associated lymphatic tissue" @@ -175744,7 +175750,6 @@ "mucosa-associated lymphoid tissue" "mucosal-associated lymphatic tissue" "mucosa associated lymphoid tissue" - "blood serum methionine aminopeptidase 1D, mitochondrial amount" "blood serum nucleoplasmin-2 amount" "hemolytic-uremic syndrome without diarrhoea with DGKE deficiency" "aHUS with DGKE deficiency" @@ -176116,10 +176121,10 @@ "acral lentiginous melanoma" "acral lentiginous melanoma, malignant (morphologic abnormality)" "acral lentiginous melanoma (disease)" - "intra cranial volume measurement" "neurodevelopmental disorder with severe motor impairment and absent language" "neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome" "blood serum integrin-linked kinase-associated serine/threonine phosphatase 2C amount" + "intra cranial volume measurement" "EOCA" "Harding ataxia" "EOCARR" @@ -176342,13 +176347,13 @@ "Johnson syndrome" "blood serum dual specificity tyrosine-phosphorylation-regulated kinase 2 amount" "iatrogenic disorder" + "interventricular septum of heart" + "interventriculare cordis" + "ventricular septum" "floor of mouth mucoepidermoid carcinoma" "mouth floor mucoepidermoid carcinoma" "mucoepidermoid carcinoma of the floor of mouth" "mucoepidermoid carcinoma of floor of mouth" - "interventricular septum of heart" - "interventriculare cordis" - "ventricular septum" "uterine ligament clear cell adenocarcinoma" "PEX5 related Zellweger spectrum disorder" "peroxisome biogenesis disorder due to PEX5 defect" @@ -177148,12 +177153,12 @@ "Lumbago" "Lower back pain" "LBP" - "blood serum protein SCO2, mitochondrial amount" "Cyanothece sp. BH68" "Cyanothece sp. BH68K" "Cyanothece (strain ATCC 51142)" "Cyanothece ATCC51142" "Cyanothece 51142" + "blood serum protein SCO2, mitochondrial amount" "blood serum keratin, type II cytoskeletal 1 amount" "ICE syndrome" "MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS" @@ -177244,8 +177249,8 @@ "TIIAC" "blood serum transcriptional activator protein Pur-beta amount" "CNS disorder" - "central nervous system disorder" "disorder of central nervous system" + "central nervous system disorder" "central nervous system disease or disorder" "disease or disorder of central nervous system" "disease of the central nervous system" @@ -177776,8 +177781,8 @@ "malignant neoplasm of the urethra" "urethra cancer" "malignant urethra neoplasm" - "malignant tumour of urethra" "malignant neoplasm of urethra" + "malignant tumour of urethra" "malignant urethral tumour" "cancer of urethra" "Familial keratoconus with cataract" @@ -177828,11 +177833,11 @@ "METHANOL" "Methanol" "methanol" - "Anatomical Therapeutic Chemical Classification System" "BDPLT19" "PRKACG isolated hereditary giant platelet disorder" "severe autosomal recessive macrothrombocytopenia" "isolated hereditary giant platelet disorder caused by mutation in PRKACG" + "Anatomical Therapeutic Chemical Classification System" "melanocytic neoplasm of the central nervous system" "central nervous system melanocytic neoplasms" "melanocytic neoplasm of CNS" @@ -177932,11 +177937,11 @@ "Paroxysmal Sleep" "narcolepsy type 2" "Sleep, Paroxysmal" + "glucuronate" "Viruses caused labyrinthitis" "Viruses labyrinthitis" "epidemic vertigo (finding)" "epidemic vertigo" - "glucuronate" "K" "blood serum complement C4-B amount" "blood serum pregnancy-specific beta-1-glycoprotein 1 amount" @@ -178370,11 +178375,11 @@ "Rickettsia conorii spotted fever" "Boutonneuse Fever" "South African tick-bite fever (disorder)" - "blood serum bridging integrator 3 amount" "leiomyoma of the vagina" "vaginal leiomyoma" "vagina leiomyoma" "leiomyoma of vagina" + "blood serum bridging integrator 3 amount" "Abnormal shape of upper motor neuron" "Hypergonadotrophic hypogonadism" "Primary hypogonadism" @@ -178891,10 +178896,10 @@ "MAP" "dHMN7" "distal spinal muscular atrophy with vocal cord paralysis" - "radio-ulnar fusion, bilateral" "2-amino-3-phenylpropanoic acid" "phenylalanine" "Phenylalanine" + "radio-ulnar fusion, bilateral" "ventriculoarterial and atrioventricular discordance" "levo-transposition of the great arteries" "L-transposition of the great arteries" @@ -179200,15 +179205,15 @@ "blood serum leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 amount" "Halal syndrome" "blood serum pregnancy zone protein amount" + "myopathy, tubular aggregate, 2" + "tubular aggregate myopathy caused by mutation in ORAI1" + "myopathy, tubular aggregate, type 2" + "ORAI1 tubular aggregate myopathy" "arthritides" "skeletal joint inflammation" "inflammation of skeletal joint" "arthritis" "arthritic joint disease" - "myopathy, tubular aggregate, 2" - "tubular aggregate myopathy caused by mutation in ORAI1" - "myopathy, tubular aggregate, type 2" - "ORAI1 tubular aggregate myopathy" "2,3-bis(acyloxy)propyl 2-(trimethylammonio)ethyl phosphate" "HPV-related penile squamous cell carcinoma" "human papillomavirus-related penile squamous cell carcinoma" @@ -179390,7 +179395,6 @@ "carcinoma of the eyelid" "HIBM4" "blood serum procollagen galactosyltransferase 1 amount" - "Christian-Rosenberg syndrome" "ALT" "well-differentiated liposarcoma" "well differentiated liposarcoma of deep soft tissue" @@ -179398,6 +179402,7 @@ "well differentiated liposarcoma" "atypical lipoma" "atypical lipomatous tumor" + "Christian-Rosenberg syndrome" "neurocranial trabeculae" "trabecula" "trabecular cartilage" @@ -179637,9 +179642,9 @@ "thymoma malignant invasive" "large pre-BII cell" "GM17825 cell" + "PNGase" "thanatophoric dwarfism" "Td" - "PNGase" "Detroit 562" "D562" "Det562" @@ -179833,18 +179838,18 @@ "blood serum hyaluronidase-4 amount" "autosomal recessive cerebellar ataxia due to GBA2 deficiency" "Kaposi sarcoma, susceptibility to" + "Swiss Webster" + "Crl:CFW(SW)" "TPM3-related myopathy" "congenital myopathy related to TPM3" "TPM3 myopathy" - "Swiss Webster" - "Crl:CFW(SW)" + "T.8SP24int.Th" + "CD24-positive, CD8 single-positive semimature thymocyte" "pigs" "pig" "Sus scrofus" "wild boar" "swine" - "T.8SP24int.Th" - "CD24-positive, CD8 single-positive semimature thymocyte" "POROK1" "Rhodopseudomonas palustris strain CGA009" "Rhodopseudomonas palustris str. CGA009" @@ -179882,8 +179887,8 @@ "African soft-furred rat" "Natal multimammate mouse" "blood serum dihydropyrimidinase-related protein 1 amount" - "GM17175 cell" "Patent arterial duct - bicuspid aortic valve - hand anomalies" + "GM17175 cell" "Sea-blue histiocyte syndrome (disorder)" "Sea-Blue Histiocyte Syndrome" "Syndrome, Wiskott-Aldrich" @@ -180598,18 +180603,18 @@ "aneurysm of coronary vessels" "extracellular space of host" "interbranchial IV" - "BTI-TN-5B1-4" - "Tn 5B1-4" - "blood serum EMI domain-containing protein 1 amount" "panniculus adiposus telae subcutaneae" "panniculus adiposus (tela subcutanea)" "subcutaneous fat layer" "fatty layer of subcutaneous tissue" "hypodermis fat layer" - "nervus terminalis" + "blood serum EMI domain-containing protein 1 amount" + "BTI-TN-5B1-4" + "Tn 5B1-4" "myopathy caused by mutation in FKRP" "FKRP-related myopathy" "FKRP myopathy" + "nervus terminalis" "fibroma" "fibroma, benign" "PSA measurement" @@ -180825,8 +180830,8 @@ "acute leukaemia (disease)" "stem cell leukemia (disease)" "acute leukemia (disease)" - "leukemoid reaction" 92.1 + "leukemoid reaction" "AxD type II" "secretory otitis Media" "Otitis media with effusion" @@ -181551,9 +181556,9 @@ "blood serum neuron-specific vesicular protein calcyon amount" "bile duct intrahepatic part" "10X 3' v3" + "blood serum origin recognition complex subunit 6 amount" "embryo Ce" "Caenorhabditis elegans embryo stage" - "blood serum origin recognition complex subunit 6 amount" "blood serum interleukin-1 receptor-like 1 amount" "fibroepithelial tumour" "fibroepithelial tumor" @@ -181642,11 +181647,11 @@ "BSCL" "generalised congenital lipodystrophy" "GM15242 cell" - "response to ICI" "blood serum Fc receptor-like B amount" "XFE progeroid syndrome" "XPF-ERCC1 progeroid syndrome" "XFEPS" + "response to ICI" "PKDYS1" "Parkinsonism-dystonia, infantile, 1" "classic DTDS" @@ -181827,12 +181832,12 @@ "plasma trimethylammonioacetate measurement" "blood serum CD7 molecule amount" "microtubule cytoskeleton organisation" + "perineal tear" "disease of cardiac ventricle" "cardiac ventricle disease or disorder" "disease or disorder of cardiac ventricle" "disorder of cardiac ventricle" "cardiac ventricle disease" - "perineal tear" "blood serum Sphingomyelin (d34:2) amount" "CMH1" "hypertrophic cardiomyopathy type 1" @@ -181931,11 +181936,11 @@ "malignant skeletal muscle tumor" "Coronary Stenosis" "Coronary artery stenosis (disorder)" - "BCL11B-related BAFopathy" - "intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities" "blood platelet aggregation" "intracellular region of host" "host intracellular" + "BCL11B-related BAFopathy" + "intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities" "nasal cavity and paranasal sinus carcinoma" "nasal cavity and paranasal sinus cancer" "sinonasal carcinoma" @@ -181956,6 +181961,7 @@ "autosomal recessive nonsyndromic hearing loss 31" "Single cell RNA barcoding and sequencing" "blood serum protein Aster-C amount" + "Leucoplakia of penis" "Leukoplakia of penis (disorder)" "kraurosis of penis" "kraurosis penis" @@ -181965,7 +181971,6 @@ "leukoplakia of penis" "Kraurosis of penis" "Balanitis Xerotica Obliterans" - "Leucoplakia of penis" "high-grade pancreatic neuroendocrine carcinoma" "malignant islet cell tumor" "poorly-differentiated neuroendocrine neoplasm of pancreas" @@ -182028,8 +182033,8 @@ "chronic atrial dysrhythmia-intestinal motility disorder" "chronic atrial and intestinal dysrhythmia" "caid syndrome" - "7-chloro-4-hydroxyquinoline-2-carboxylic acid" "TCM type" + "7-chloro-4-hydroxyquinoline-2-carboxylic acid" "blood serum SLIT-ROBO Rho GTPase-activating protein 2 amount" "blood serum Max-like protein X amount" "Pierre Robin sequence associated with bone disease" @@ -182469,6 +182474,11 @@ "CMD1B" "MDC1B" "congenital muscular dystrophy type 1B" + "pancreatic large cell NEC G3" + "pancreas large cell neuroendocrine carcinoma" + "pancreatic large cell neuroendocrine carcinoma" + "pancreatic large cell NEC" + "large cell neuroendocrine carcinoma of pancreas" "DTGA" "DTGA1" "dextro-looped transposition of the great arteries type 1" @@ -182476,11 +182486,6 @@ "transposition of the great arteries, dextro-looped type 1" "dextro-looped transposition of the great arteries caused by mutation in MED13L" "dextro-looped transposition of the great arteries 1" - "pancreatic large cell NEC G3" - "pancreas large cell neuroendocrine carcinoma" - "pancreatic large cell neuroendocrine carcinoma" - "pancreatic large cell NEC" - "large cell neuroendocrine carcinoma of pancreas" "brain disorder" "brain disease" "disease of brain" @@ -183227,12 +183232,12 @@ "Cl measurement" "chloride levels" "Oerter-Friedman-Anderson syndrome" + "CHM-hypopituitarism syndrome" "vertebra disease" "disease or disorder of vertebra" "disorder of vertebra" "disease of vertebra" "vertebra disease or disorder" - "CHM-hypopituitarism syndrome" "hypoplasminogenemia" "plasminogen deficiency, type 1" "plasminogen deficiency type 1" @@ -183297,10 +183302,10 @@ "carbonyl dichloride" "portion of blood plasma" "blood plasm" - "TAG 50:3" "typhasterol" "(3alpha,5alpha,22R,23R,24S)-3,22,23-trihydroxyergostan-6-one" "SM 22:1" + "TAG 50:3" "GM17107 cell" "uterine smooth muscle" "Human Herpes Virus 8 Infection" @@ -183569,7 +183574,6 @@ "duct of salivary gland carcinoma" "high grade salivary duct carcinoma" "carcinoma of duct of salivary gland" - "snRNA-seq" "autosomal recessive spinocerebellar ataxia type 12" "SCAR12" "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" @@ -183591,6 +183595,7 @@ "Implantation, Heart Valve Prosthesis" "Heart Valve Prostheses" "Valve Prostheses, Cardiac" + "snRNA-seq" "Charcot-Marie-Tooth neuropathy type 4A" "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A" "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1" @@ -183806,9 +183811,9 @@ "giant axonal neuropathy caused by mutation in DCAF8" "CMT2 with giant axons" "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" + "CE 14:0" "fenazaquin" "4-[2-(4-tert-butylphenyl)ethoxy]quinazoline" - "CE 14:0" "blood serum protein kish-A amount" "benign larynx tumor" "larynx benign neoplasm" @@ -183903,6 +183908,8 @@ "blood serum GTP cyclohydrolase 1 amount" "cone dystrophy" "blood serum mediator of RNA polymerase II transcription subunit 28 amount" + "greasy grouper" + "Epinephelus tauvina (Forsskal, 1775)" "lipoid histiocytosis (kerasin type)" "Gaucher syndrome" "Gaucher's disease" @@ -183914,8 +183921,6 @@ "glucocerebrosidase deficiency" "glocucerebrosidase deficiency" "glucosylceramide beta-glucosidase deficiency" - "greasy grouper" - "Epinephelus tauvina (Forsskal, 1775)" "(9Z)-tetradec-9-enoate" "Mosaic trisomy type 20" "Mosaic trisomy chromosome 20" @@ -184148,7 +184153,6 @@ "gastric NET G1/2" "gastric well differentiated endocrine tumor/carcinoma" "gastric well differentiated endocrine tumour" - "Autosomal recessive intermediate osteopetrosis" "cerebral gigantism syndrome" "Sotos syndrome type 1" "cerebral gigantism" @@ -184158,12 +184162,13 @@ "chromosome 5q35 deletion syndrome" "Sotos' syndrome" "Sotos syndrome caused by mutation in NSD1" + "Autosomal recessive intermediate osteopetrosis" + "CAL-85-1" "cavernous angioma" "cavernoma" "cavernous hemangioma" "cavernous hemangioma (morphologic abnormality)" "cavernous haemangioma" - "CAL-85-1" "Rate Of Respiration, Increased" "Fast Breathing" "Respiratory Rate, Increased" @@ -184349,6 +184354,7 @@ "muskmelon" "Oriental melon" "Cucurbita melo L." + "Chitty-Hall-Baraitser syndrome" "small cell carcinoma of urinary bladder" "small cell neuroendocrine carcinoma of the urinary bladder" "bladder small cell neuroendocrine carcinoma" @@ -184362,7 +184368,6 @@ "small cell carcinoma of the urinary bladder" "poorly differentiated neuroendocrine carcinoma of the bladder" "small cell bladder cancer" - "Chitty-Hall-Baraitser syndrome" "blood serum N-alpha-acetyltransferase 20 amount" "Isochromosome type Y" "ABSD" @@ -184451,11 +184456,11 @@ "adenocarcinoma - colon" "adenocarcinoma of the colon" "blood serum beta-1,3-galactosyltransferase 2 amount" - "polydactyly, postaxial, type A6" "MSD" "Multiple sulfatase deficiency disease" "Austin type juvenile sulfatidosis" "Mucosulfatidosis" + "polydactyly, postaxial, type A6" "pigmented nodular adrenocortical disease, primary, type 1" "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A" "PRKAR1A primary pigmented nodular adrenocortical disease" @@ -184499,9 +184504,6 @@ "self-improving congenital ichthyosis" "SICI" "MPO-DNA complex" - "PBD-ZSS" - "PBD-ZSD" - "PBD-Zellweger spectrum disorder" "Bed nucleus of stria terminalis" "Nucleus of stria terminalis" "Nuclei of stria terminalis" @@ -184510,6 +184512,9 @@ "hereditary sensory and autonomic neuropathy type I" "Hereditary Sensory Neuropathy Type I" "HSAN1" + "PBD-ZSS" + "PBD-ZSD" + "PBD-Zellweger spectrum disorder" "iatrogenic Kaposi sarcoma" "iatrogenic Kaposi's sarcoma" "partial monosomy of the long arm of chromosome 2" @@ -184750,8 +184755,8 @@ "Venous Thromboses, Deep" "Deep-Vein Thrombosis" "Venous Thrombosis, Deep" - "Thrombosis, Deep-Venous" "DVT" + "Thrombosis, Deep-Venous" "Vein Thrombosis, Deep" "Thromboses, Deep-Vein" "blood serum atypical kinase COQ8B, mitochondrial amount" @@ -184997,9 +185002,9 @@ "hereditary nonpolyposis colon cancer" "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome" "PAGOD syndrome" + "blood serum actin-binding LIM protein 3 amount" "Pleuronichthys verticalis Jordan & Gilbert, 1880" "hornyhead turbot" - "blood serum actin-binding LIM protein 3 amount" "hepatitis type E" "Hepatitis E virus hepatitis" "Hepatitis E virus caused hepatitis" @@ -185182,8 +185187,8 @@ "SMAD7 colorectal cancer" "colorectal cancer, susceptibility to, 3" "colorectal cancer caused by mutation in SMAD7" - "blood serum myosin light chain 4 amount" "displacement of intervertebral disc" + "blood serum myosin light chain 4 amount" "delayed-type hypersensitivity" "type IV hypersensitivity reaction" "type IV hypersensitivity" @@ -185403,8 +185408,8 @@ "neoplasm of gastrointestinal system" "tumor of digestive system" "GI system neoplasm" - "Kelly-Kirson-Wyatt syndrome" "Influenza A virus (A/Texas/36/91(H1N1))" + "Kelly-Kirson-Wyatt syndrome" "diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome" "cutaneous hemangioma with muscle or bone atrophy" "congenital absence of hand" @@ -185789,8 +185794,8 @@ "hip fracture" "Fractures, Trochanteric" "Fractures, Subtrochanteric" - "Fractures, Hip" "Fractures, Intertrochanteric" + "Fractures, Hip" "Hip Fractures" "Genetic heterogeneity" "CYP3A4 enzyme activity. " @@ -185829,8 +185834,8 @@ "Bowman's parietal epithelium" "renal glomerular capsule epithelium" "parietal layer of glomerular capsule" - "parietal capsular epithelium" "outer layer of glomerular capsule" + "parietal capsular epithelium" "glomerular capsule parietal layer" "parietal epithelium of Bowman's capsule" "parietal layer of Bowman capsule" @@ -186448,7 +186453,6 @@ "lymphangiomyoma" "lymphangioleiomyoma" "blood serum cochlin amount" - "tumour of the oropharynx" "tumor of oropharynx" "oropharyngeal neoplasms" "oropharyngeal tumor" @@ -186462,6 +186466,7 @@ "neoplasm of the oropharynx" "tumor of the oropharynx" "neoplasm of oropharynx" + "tumour of the oropharynx" "CD16-mDC" "CD16+ mDC" "transitional papilloma, inverted" @@ -186570,9 +186575,9 @@ "well differentiated thyroid gland carcinoma" "differentiated thyroid cancer" "granulomatous dermatitis" - "cholangitis, chronic" "steel syndrome" "bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome" + "cholangitis, chronic" "Triticum durum subsp. durum" "Triticum rigidum ssp. durum" "durum wheat" @@ -186685,8 +186690,8 @@ "cervical keratinizing squamous cell carcinoma" "tumour of trachea" "tumor of trachea" - "trachea neoplasm" "neoplasm of the trachea" + "trachea neoplasm" "tumour of the trachea" "tracheal neoplasm" "trachea tumor" @@ -186954,9 +186959,6 @@ "Fredrickson type IIa hyperlipoproteinemia" "Hyperlipoproteinemia Type II" "familial hypercholesterolemia" - "AML, t(7;12)(q36;p13)" - "Oriental migratory locust" - "Locusta migratoria manilensis (Meyen, 1835)" "anus skin tag" "anal fibroepithelial polyp" "fibrous polyp of the anus" @@ -186965,6 +186967,9 @@ "fibroepithelial polyp of the anus" "fibroepithelial polyp of anus" "anal tag" + "AML, t(7;12)(q36;p13)" + "Oriental migratory locust" + "Locusta migratoria manilensis (Meyen, 1835)" "blood serum segment polarity protein dishevelled homolog DVL-2 amount" "multiple epiphyseal dysplasia with Robin phenotype" "X-linked inherited ichthyosis syndromic form" @@ -187555,8 +187560,8 @@ "Neurolipocytoma" "Neurocytoma" "Harder, denser, fracture-prone bones" - "Familial doughnut lesions of skull" "Isolated Noncompaction of the Ventricular Myocardium" + "Familial doughnut lesions of skull" "blood serum protein-tyrosine sulfotransferase 2 amount" "complex neurodevelopmental disorder" "proximal part of limb" @@ -188006,14 +188011,6 @@ "PSEN1 familial acne inversa" "Low fibrinogen activity" "Low fibrinogen level" - "peritoneum neoplasm" - "tumour of peritoneum" - "peritoneal neoplasm" - "tumor of peritoneum" - "peritoneum neoplasm (disease)" - "peritoneum tumour" - "neoplasm of peritoneum" - "peritoneum tumor" "arylsulfatase B deficiency" "deficiency of N-acetylgalactosamine-4-sulfatase" "Maroteaux-Lamy syndrome" @@ -188028,6 +188025,14 @@ "ARSB deficiency" "N-acetylgalactosamine 4-sulfatase deficiency" "Maroteaux - Lamy syndrome" + "peritoneum neoplasm" + "tumour of peritoneum" + "peritoneal neoplasm" + "tumor of peritoneum" + "peritoneum neoplasm (disease)" + "peritoneum tumour" + "neoplasm of peritoneum" + "peritoneum tumor" "Mucopolysaccharidosis type IIIB" "N-acetyl-alpha-glucosaminidase deficiency" "Mucopolysaccharidosis type 3B" @@ -188225,6 +188230,7 @@ "benign smooth muscle tumor" "smooth muscle tissue benign neoplasm" "benign neoplasm of smooth muscle" + "blood serum interleukin-23 receptor amount" "Charcot-Marie-Tooth disease neuronal type 2D" "Charcot-Marie-Tooth neuropathy type 2D" "autosomal dominant Charcot-Marie-Tooth disease type 2D" @@ -188232,7 +188238,6 @@ "GARS Charcot-Marie-Tooth disease type 2" "CMT2D" "Charcot-Marie-Tooth disease type 2 caused by mutation in GARS" - "blood serum interleukin-23 receptor amount" "severe dystrophinopathy, Duchenne and Becker type" "supraglottic part of larynx neoplasm (disease)" "supraglottic part of larynx tumour" @@ -188468,7 +188473,6 @@ "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK" "POMK muscular dystrophy-dystroglycanopathy, type A" "blood serum PR domain zinc finger protein 4 amount" - "TAG 52:2" "dicrocoeliasis" "Dicrocoelium infectious disease" "disease due to Dicrocoeliidae (disorder)" @@ -188477,6 +188481,7 @@ "Dicrocoelium disease or disorder" "Dicrocoeliasis" "disease due to Dicrocoeliidae" + "TAG 52:2" "Optic Nerve Head" "Optic Disk" "Optic Papilla" @@ -188495,9 +188500,7 @@ "corpus allatum primordium" "(2S)-2-acetamidobutanedioate" "Rabson-Mendenhall syndrome" - "T-B+ SCID due to CD45 deficiency" "Monteggia's fracture of ulna" - "dental pain" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" "immunodeficiency 27B, mycobacteriosis, AD" "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" @@ -188510,7 +188513,9 @@ "immunodeficiency 27B" "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" "blood serum protocadherin gamma-A12 amount" + "T-B+ SCID due to CD45 deficiency" "AML, t(11;15)(p15;q35)" + "dental pain" "hereditary spastic paraplegia type 48" "SPG48" "hereditary spastic paraplegia caused by mutation in AP5Z1" @@ -189119,13 +189124,13 @@ "heart-hand syndrome, Slovenian type" "short toes, unilateral" "Baker-Gordon syndrome" + "blood serum peroxynitrite isomerase THAP4 amount" "autosomal recessive Charcot-Marie-Tooth disease type 2B5" "severe early-onset axonal neuropathy due to NEFL deficiency" "SEOAN due to NEFL deficiency" "AR-CMT2B5" "severe early-onset axonal neuropathy due to light neurofilament subunit deficiency" "Charcot-Marie-Tooth disease type 2B5" - "blood serum peroxynitrite isomerase THAP4 amount" "kappa light chain deficiency" "recurrent infections associated with rare immunoglobulin isotypes deficiency" "kappa-chain deficiency" @@ -189489,9 +189494,9 @@ "Contractures involving the hands" "Contractures of the hands" "Microcoria - congenital nephrosis" - "NCI-SNU-16" "Spastic paraplegia due to partial TFG deficiency" "SPG57" + "NCI-SNU-16" "Carbohydrate deficient glycoprotein syndrome type Ic" "Glucosyltransferase 1 deficiency" "CDG-Ic" @@ -189502,8 +189507,8 @@ "MEB disease with bilateral multicystic leucodystrophy" "hypertrichosis (disease) of eyelid" "eyelid hypertrichosis (disease)" - "blood serum zinc finger protein 134 amount" "TAG 52:3" + "blood serum zinc finger protein 134 amount" "Infection by Dictyocaulus (disorder)" "Dictyocaulus disease or disorder" "Dictyocaulus Infections" @@ -189708,15 +189713,15 @@ "pigtail monkey" "pigtail macaque" "pig-tailed macaque" + "urinary obstruction" + "urinary tract obstruction" + "obstructive uropathy" "HT-EDS" "Ehlers-Danlos syndrome, hypermobile type" "BJHS" "Ehlers-Danlos syndrome type 3" "Benign joint hypermobility syndrome" "EDS III" - "urinary obstruction" - "urinary tract obstruction" - "obstructive uropathy" "HJMD" "Hypotrichosis with juvenile macular dystrophy" "scleredema" @@ -190114,9 +190119,9 @@ "HCT-FET" "HCT FET" "GM17817 cell" + "2,6,10,14-tetramethylpentadecane" "1,25(OH)2-D3" "1,25-dihydroxycholecalciferol" - "2,6,10,14-tetramethylpentadecane" "Le Merrer syndrome" "Yakut short stature syndrome" "Gloomy face syndrome" @@ -190373,10 +190378,10 @@ "Stomatitis-Pneumoenteritis Syndrome" "Pseudorinderpest" "blood serum V-set and immunoglobulin domain-containing protein 2 amount" - "familial parathyroids hyperplasia" "blood serum exosome complex component RRP43 amount" "Pee issues" "Urine issues" + "familial parathyroids hyperplasia" "F1 medium" "inflammation of endometrium" "uterine infection" @@ -190531,11 +190536,11 @@ "diabetes mellitus, insulin-dependent, type 20" "IDDM20" "hyperthyroxinemia" + "4-acetamidophenyl hydrogen sulfate" "large bowel tubulovillous adenoma" "colorectal tubulovillous adenoma" "tubulovillous adenoma of the large bowel" "tubulovillous adenoma of large bowel" - "4-acetamidophenyl hydrogen sulfate" "blood serum zinc finger protein with KRAB and SCAN domains 7 amount" "anaplastic large cell lymphoma of the central nervous system" "anaplastic central nervous system large cell lymphoma" @@ -190546,6 +190551,7 @@ "central nervous system anaplastic large cell lymphoma" "anaplastic CNS large cell lymphoma" "primary CNS anaplastic large cell lymphoma" + "blood serum Phosphatidylcholine (O-18:2_20:4) amount" "otitis media with effusion - purulent" "Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media" "Suppurative otitis media" @@ -190560,7 +190566,6 @@ "Suppurative otitis med." "Otitis Media, Suppurative" "Unspecified suppurative otitis media" - "blood serum Phosphatidylcholine (O-18:2_20:4) amount" "blood serum transcriptional enhancer factor TEF-3 amount" "blood serum urotensin-2B amount" "GM17795 cell" @@ -190649,8 +190654,8 @@ "dyskeratosis congenita, autosomal dominant 2" "DKCA2" "dyskeratosis congenita, autosomal dominant type 2" - "teratoma, malignant" "BNP:NT-proBNP ratio" + "teratoma, malignant" "Geobacter sulfurreducens strain PCA" "Geobacter sulfurreducens str. PCA" "Non-phenylketonuric hyperphenylalaninemia" @@ -190714,8 +190719,8 @@ "fin buds" "Hepatocholangiocellular adenoma" "Hepatocholangioma" - "Cholangioma" "bile duct adenoma" + "Cholangioma" "Cholangioadenoma" "adenoma of bile duct" "bile duct adenoma (morphologic abnormality)" @@ -190974,8 +190979,8 @@ "Yoshimura-Takeshita syndrome" "Del(12)(p12.1)" "Monosomy 12p12.1" - "trichoodontoonychial dysplasia with bone deficiency in frontoparietal region" "octadecenoylcarnitine" + "trichoodontoonychial dysplasia with bone deficiency in frontoparietal region" "blood serum ADP-ribosylation factor-like protein 11 amount" "Parotid" "Naegeli syndrome" @@ -191442,13 +191447,13 @@ "blood serum ADP-ribosylation factor-binding protein GGA3 amount" "blood serum TBC1 domain family member 22B amount" "HHML" + "GM17738 cell" + "autosomal recessive intellectual disability due to TRAPPC9 deficiency" + "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" "Syphilis, Cardiovascular" "syphilitic aortitis" "Syphilitic aortitis (disorder)" "Syphilitic aortitis" - "GM17738 cell" - "autosomal recessive intellectual disability due to TRAPPC9 deficiency" - "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" "primary cutaneous diffuse large B-cell lymphoma, Leg type" "PCDLBCL,LT" "genetic peripheral neuropathy" @@ -191590,8 +191595,8 @@ "Echinococcus infectious disease" "Echinococcus caused disease or disorder" "liver echinococcus" - "magnesium sulfate" "blood serum small ribosomal subunit protein eS25 amount" + "magnesium sulfate" "vertebrate tooth" "dental element" "dentine containing tooth" @@ -192050,6 +192055,8 @@ "inflammation of esophagus" "inflammation of oesophagus" "blood serum C-X-C motif chemokine 14 amount" + "dystroglycanopathy" + "alpha-dystroglycanopathy" "oesophagus neoplasm" "esophageal neoplasm" "oesophagus tumour" @@ -192069,8 +192076,6 @@ "tumour of oesophagus" "tumour of the oesophagus" "esophageal tumor" - "dystroglycanopathy" - "alpha-dystroglycanopathy" "sodium {2-[(2,6-dichlorophenyl)amino]phenyl}acetate" "(Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction)" "Worsening angina" @@ -192366,11 +192371,11 @@ "atelosteogenesis type II" "AOII" "atelosteogenesis type 2" + "Spontaneous fracture" "X-linked spinal muscular atrophy type 2" "Spinal muscular atrophy with arthrogryposis" "SMAX2" "X-linked infantile spinal muscular atrophy" - "Spontaneous fracture" "retroperitoneal space sarcoma" "sarcoma of retroperitoneal space" "retroperitoneal sarcoma" @@ -192476,8 +192481,8 @@ "well-differentiated follicular adenocarcinoma" "follicular thyroid gland carcinoma" "follicular adenocarcinoma, well differentiated (morphologic abnormality)" - "carcinoma of thyroid follicle" "carcinoma, follicular cell, malignant" + "carcinoma of thyroid follicle" "follicular cancer of the thyroid" "follicular adenocarcinoma (morphologic abnormality)" "follicular adenocarcinoma" @@ -192530,10 +192535,10 @@ "Multicentric osteolysis - nodulosis - arthropathy" "ammonium nitrate" "GM17193 cell" + "blood serum keratin, type I cytoskeletal 20 amount" "MKN7 cell" "MKN-7 cell" "MKN-7" - "blood serum keratin, type I cytoskeletal 20 amount" "blood serum kinetochore protein NDC80 amount" "Xanthurenic aciduria" "kynureninase deficiency" @@ -192727,8 +192732,8 @@ "phagocyte bactericidal dysfunction" "phagocytic dysfunction" "Phagocyte Bactericidal Dysfunction" - "Trichotillomania" "blood serum calcipressin-3 amount" + "Trichotillomania" "bifid femur-monodactylous ectrodactyly syndrome" "Gollop-Wolfgang complex" "blood serum lysophospholipase D GDPD1 amount" diff --git a/src/ontology/reports/xrefs.tsv b/src/ontology/reports/xrefs.tsv index bd1e5b98..9fa6e22c 100644 --- a/src/ontology/reports/xrefs.tsv +++ b/src/ontology/reports/xrefs.tsv @@ -123,12 +123,12 @@ "UMLS:C1832588" "OMIM:601224" "MeSH:C538356" + "UMLS:C0740394" + "SNOMEDCT_US:35885006" "DOID:0070415" "OMIM:617412" "UMLS:C4479431" "MEDGEN:1374289" - "UMLS:C0740394" - "SNOMEDCT_US:35885006" "MEDGEN:14336" "SCTID:118940003" "ICD10CM:G00-G99" @@ -556,8 +556,8 @@ "UMLS:C2675440" "DOID:0111349" "PMID:29875488" - "PMID:31396565" "UMLS:C4022661" + "PMID:31396565" "PMID:29875488" "NCIT:C5462" "UMLS:C1334238" @@ -1140,8 +1140,8 @@ "SCTID:253153000" "MEDGEN:98129" "Orphanet:268950" - "UMLS:C4021546" "PMID:29875488" + "UMLS:C4021546" "GARD:2009" "UMLS:C4706366" "MEDGEN:1642311" @@ -1612,13 +1612,6 @@ "UMLS:C0263627" "OMIM:302960" "PMID:29875488" - "MONDO:0005740" - "MeSH:D004457" - "MEDGEN:41697" - "MESH:D004457" - "UMLS:C0013533" - "DOID:10911" - "SCTID:271532008" "DrugBank:DB01159" "MeSH:D006221" "SNOMEDCT:63682003" @@ -1638,6 +1631,13 @@ "SCTID:719662000" "GARD:20691" "MEDGEN:930197" + "MONDO:0005740" + "MeSH:D004457" + "MEDGEN:41697" + "MESH:D004457" + "UMLS:C0013533" + "DOID:10911" + "SCTID:271532008" "PMID:28240269" "NCIt:C81278" "UMLS:C2825556" @@ -1862,15 +1862,15 @@ "UMLS:C2931427" "OMIM:145981" "MeSH:C537146" - "HP:0031493" - "NCIT:C7132" - "UMLS:C0205854" - "MEDGEN:64458" "UMLS:C2931182" "UMLS:C0155930" "ICD10:K03.5" "MedDRA:10044019" "MeSH:D020254" + "HP:0031493" + "NCIT:C7132" + "UMLS:C0205854" + "MEDGEN:64458" "NCIt:C66975" "MEDGEN:276988" "NCIT:C40320" @@ -2048,9 +2048,9 @@ "SCTID:733115009" "GARD:12405" "PMID:32641083" - "PMID:24816252" "SNOMEDCT:370135005" "SNOMEDCT:308489006" + "PMID:24816252" "UMLS:C0796430" "DOID:3542" "MEDGEN:163268" @@ -2447,8 +2447,8 @@ "EHDAA:1265" "EV:0100018" "MFO:0080900" - "PMID:29875488" "OMIM:178330" + "PMID:29875488" "GARD:2638" "OMIM:141500" "DOID:0111181" @@ -2893,8 +2893,8 @@ "NCIT:C35126" "MEDGEN:12103" "MESH:D014786" - "UMLS:C0042790" "SCTID:95677002" + "UMLS:C0042790" "MedDRA:10047518" "GARD:10823" "Orphanet:71526" @@ -3746,7 +3746,6 @@ "DOID:0050882" "SNOMEDCT:1161001" "PMID:24816252" - "PMID:28240269" "galen:ProstateGland" "UMLS:C0033572" "CALOHA:TS-0828" @@ -3764,6 +3763,7 @@ "EV:0100104" "VHOG:0001261" "EMAPA:19287" + "PMID:28240269" "MEDGEN:1648439" "DOID:0111403" "OMIM:618273" @@ -4308,7 +4308,6 @@ "FMA:63631" "EVM:2990031" "MmusDv:0000031" - "PMID:35347128" "OMIM:600977" "OMIM:608194" "OMIM:615374" @@ -4337,6 +4336,7 @@ "OMIM:610381" "OMIM:600624" "OMIM:603649" + "PMID:35347128" "ICDO:8982/1" "DOID:2661" "UMLS:C0027070" @@ -4525,9 +4525,9 @@ "RRID:CVCL_4213" "BTO:0002522 " "CLO:0037256" + "PMID:28701861" "RRID:CVCL_0307" "BTO:0002828" - "PMID:28701861" "GARD:10213" "UMLS:C5680363" "Orphanet:572361" @@ -4547,13 +4547,13 @@ "NCIT:C6633" "DOID:6868" "MEDGEN:235311" - "OMIM:204500" - "ICD10:E75.4" "UMLS:C5394548" "MEDGEN:1718769" "OMIM:618940" "GARD:16397" "DOID:0081298" + "OMIM:204500" + "ICD10:E75.4" "ICD10:Q87.8" "EC:4.2.1.93" "RHEA:19017" @@ -4589,13 +4589,13 @@ "MEDGEN:83395" "UMLS:C0345981" "PMID:28240269" + "PMID:30659259" "MESH:C536231" "Orphanet:217607" "GARD:20525" "OMIMPS:115200" "UMLS:C0340427" "MEDGEN:90951" - "PMID:30659259" "OMIM:609285" "NCIT:C164225" "MESH:C538351" @@ -4701,7 +4701,6 @@ "PDBeChem:CSU" "PMID:23430915" "PMID:37164013" - "PMID:28878392" "DOID:12721" "icd11.foundation:2009123831" "NORD:1468" @@ -4716,6 +4715,7 @@ "MEDGEN:6461" "ICD10CM:Q77.3" "JAX:004460" + "PMID:28878392" "MEDGEN:482413" "UMLS:C3280783" "OMIM:614431" @@ -4930,10 +4930,10 @@ "MONDO:0004982" "MeSH:D010195" "DOID:4989" + "SCTID:75694006" "MEDGEN:14586" "NCIt:C3306" "MedDRA:10033645" - "SCTID:75694006" "MESH:D010195" "MedDRA:10050539" "MeSH:D063847" @@ -5037,17 +5037,17 @@ "UMLS:C4015371" "UMLS:C4721788" "NCIt:C15189" - "UMLS:C2930869" - "UMLS:C1865294" - "OMIM:602484" - "MeSH:C535548" - "MeSH:C535292" "ZFA:0000265" "NCIT:C3127" "SCTID:126686005" "MEDGEN:43797" "UMLS:C0020627" "NCIt:C121970" + "UMLS:C2930869" + "UMLS:C1865294" + "OMIM:602484" + "MeSH:C535548" + "MeSH:C535292" "PMID:28235828" "SNOMEDCT:55827005" "NCIt:C50631" @@ -5327,13 +5327,13 @@ "MESH:D014591" "ICD9:621.9" "DOID:345" - "OMIMPS:614372" "CLO:0009227" "RRID:CVCL_0594" "BTO:0005065" "CLO:0008172" "CLO:0050548" "BTO:0000944" + "OMIMPS:614372" "FBbt:00005541" "SNOMEDCT:360387000" "PMID:19609351" @@ -5661,6 +5661,7 @@ "BTO:0003723" "RRID:CVCL_1783" "PMID:29875488" + "MA:0001453" "FMA:11946" "NCIT:C32138" "EFO:0003618" @@ -5671,7 +5672,6 @@ "TAO:0001066" "UMLS:C0223076" "VHOG:0001670" - "MA:0001453" "DOID:7514" "MEDGEN:275635" "UMLS:C1520159" @@ -5718,11 +5718,11 @@ "CLO:0002022" "BTO:0001323" "RRID:CVCL_1091" - "NCIt:C67282" "UMLS:C1854568" "OMIM:605229" "MeSH:C537486" "ICD10:G11.4" + "NCIt:C67282" "MeSH:D002578" "DOID:8586" "ICD10:N87" @@ -5749,7 +5749,6 @@ "UMLS:C0014866" "SNOMEDCT_US:63305008" "PMID:28240269" - "PMID:33634981" "GARD:3348" "UMLS:C0796094" "ICD9:525.8" @@ -5763,6 +5762,11 @@ "ONCOTREE:VPSCC" "MEDGEN:234477" "UMLS:C1336955" + "UMLS:C5681616" + "MEDGEN:1842708" + "Orphanet:93945" + "GARD:19239" + "PMID:33634981" "MESH:D014126" "SCTID:416481006" "MONDO:0005879" @@ -5772,10 +5776,6 @@ "MedDRA:10067246" "DOID:13343" "UMLS:C0040561" - "UMLS:C5681616" - "MEDGEN:1842708" - "Orphanet:93945" - "GARD:19239" "ICD9:727.49" "MEDGEN:578881" "DOID:9754" @@ -5799,12 +5799,12 @@ "UMLS:C0153998" "SCTID:92021007" "NCIT:C3608" - "PMID:34128465" "MEDGEN:1740270" "OMIM:618969" "UMLS:C5436501" "DOID:0112005" "PMID:36168886" + "PMID:34128465" "SCTID:237963003" "icd11.foundation:1462194012" "Orphanet:308467" @@ -6066,8 +6066,8 @@ "UMLS:C5680778" "Wikipedia:Putamen" "PMID:28927378" - "PMID:23823483" "FBbt:00000441" + "PMID:23823483" "NCIt:C81183" "ZFA:0001299" "BTO:0001445" @@ -6089,11 +6089,11 @@ "NCIT:C5490" "Orphanet:423994" "NCIt:C7972" - "SNOMEDCT:28692007" "OMIM:613873" "UMLS:C3151264" "DOID:0110323" "MEDGEN:462614" + "SNOMEDCT:28692007" "MEDGEN:859716" "SCTID:721074002" "OMIM:615961" @@ -7125,9 +7125,9 @@ "Reactome:R-HSA-174394" "Reactome:R-HSA-5602901" "UMLS:C1846442" - "PMID:29875488" "DOID:3449" "NCIt:C9061" + "PMID:29875488" "KEGG:C03912" "HMDB:HMDB0001301" "PMID:8301021" @@ -7253,6 +7253,12 @@ "TAO:0001356" "PMID:29875488" "PMID:34610981" + "UMLS:C0014170" + "MEDGEN:8619" + "NCIT:C3012" + "ICD9:239.5" + "SCTID:123844007" + "MESH:D016889" "NORD:2038" "GARD:5677" "ICD9:758.81" @@ -7262,12 +7268,6 @@ "UMLS:C2936741" "SCTID:403760006" "Orphanet:10" - "UMLS:C0014170" - "MEDGEN:8619" - "NCIT:C3012" - "ICD9:239.5" - "SCTID:123844007" - "MESH:D016889" "icd11.foundation:1144812971" "SCTID:397016004" "NCIT:C9235" @@ -7331,8 +7331,8 @@ "Wikipedia:Penis" "BTO:0000405" "GAID:389" - "EV:0100107" "CALOHA:TS-0758" + "EV:0100107" "EHDAA2:0001433" "VHOG:0000727" "UMLS:C0030851" @@ -7352,13 +7352,13 @@ "MESH:D010145" "UMLS:C0342690" "ICD10:E72.4" - "ICD10:O72" - "MedDRA:10036418" - "NCIt:C92853" "MESH:D000782" "NCIT:C2873" "UMLS:C0002938" "MEDGEN:294" + "ICD10:O72" + "MedDRA:10036418" + "NCIt:C92853" "GARD:9287" "SCTID:725141006" "MESH:C535396" @@ -7712,8 +7712,8 @@ "NCI Metathesaurus: C0037658" "MedDRA:10064140" "MeSH:D053421" - "PMID:35888728" "PMID:29875488" + "PMID:35888728" "MeSH:D046152" "OMIM:606764" "DOID:9253" @@ -8272,8 +8272,8 @@ "AAO:0010551" "XAO:0000164" "MESH:D000311" - "MAT:0000071" "UMLS:C0001625" + "MAT:0000071" "Wikipedia:Adrenal_gland" "EV:0100135" "BTO:0000047" @@ -8432,10 +8432,10 @@ "Orphanet:622014" "NCIT:C122414" "NANDO:2200902" - "PMID:31246245" "OMIM:614751" "OMIM:600794" "ICD10:G12.2" + "PMID:31246245" "MESH:D001715" "UMLS:C0796094" "UMLS:C2931643" @@ -8476,6 +8476,7 @@ "MeSH:D020819" "OMIM:215470" "ICD10:G11.8" + "PMID:24816252" "Orphanet:2180" "MESH:C536461" "OMIM:600991" @@ -8483,17 +8484,11 @@ "UMLS:C3551260" "MEDGEN:764174" "GARD:5518" - "PMID:24816252" "Fyler:4133" "UMLS:C4023528" "PMID:19386619" "FMA:24901" "FMA:83517" - "UMLS:C0019202" - "ICD10:E83.0" - "MeSH:D006527" - "MedDRA:10019819" - "OMIM:277900" "ICD10:E77.8" "OMIM:608540" "PMID:29875488" @@ -8505,6 +8500,11 @@ "MEDGEN:462244" "SCTID:764440006" "Orphanet:357001" + "UMLS:C0019202" + "ICD10:E83.0" + "MeSH:D006527" + "MedDRA:10019819" + "OMIM:277900" "BTO:0005773" "CLO:0009988" "RRID:CVCL_2956" @@ -8845,7 +8845,6 @@ "MedDRA:10062599" "NCIt:C127821" "MeSH:D001157" - "Orphanet:79379" "MESH:D017445" "DOID:9540" "MEDGEN:102473" @@ -8854,6 +8853,7 @@ "SCTID:11263005" "ICD9:709.1" "MedDRA:10062171" + "Orphanet:79379" "ICD10:Q20.1" "Gmelin:9298" "PMID:16623025" @@ -8957,8 +8957,8 @@ "MEDGEN:442873" "UMLS:C4025711" "SNOMEDCT:438736009" - "PMID:37253714" "PMID:29875488" + "PMID:37253714" "SNOMEDCT:307541003" "NCIt:C94773" "MeSH:D059411" @@ -9030,6 +9030,8 @@ "Wikipedia:Efferent_arteriole" "EMAPA:28233" "TAO:0002140" + "UMLS:C0268104" + "MedDRA:10061476" "SCTID:2707005" "icd11.foundation:141267925" "GARD:9767" @@ -9043,8 +9045,6 @@ "UMLS:C0520459" "MeSH:D020345" "NCIt:C84915" - "UMLS:C0268104" - "MedDRA:10061476" "TAO:0000200" "ZFA:0000200" "MIAA:0000162" @@ -9142,11 +9142,6 @@ "PMID:22451473" "KNApSAcK:C00001197" "PDBeChem:OAA" - "MEDGEN:374426" - "UMLS:C1840266" - "MESH:C564136" - "GARD:2984" - "OMIM:146830" "MEDGEN:208877" "UMLS:C0853105" "DOID:3449" @@ -9155,6 +9150,11 @@ "SCTID:372106005" "GARD:0009366" "MONDO:0006360" + "MEDGEN:374426" + "UMLS:C1840266" + "MESH:C564136" + "GARD:2984" + "OMIM:146830" "UMLS:C3806467" "UMLS:C5231404" "MEDGEN:1684774" @@ -9195,8 +9195,8 @@ "MESH:D015439" "UMLS:C0575897" "SNOMEDCT_US:299130003" - "NCIT:C126349" "MeSH:D013952" + "NCIT:C126349" "MESH:D014314" "NCIT:C3421" "MEDGEN:21702" @@ -9565,6 +9565,9 @@ "SCTID:254645002" "NCIT:C7376" "UMLS:C0812413" + "OMIM:617899" + "OMIM:612438" + "ICD10:E75.2" "SCTID:61665008" "MESH:C536928" "GARD:420" @@ -9573,9 +9576,6 @@ "NORD:1805" "OMIM:276300" "MEDGEN:1748029" - "OMIM:617899" - "OMIM:612438" - "ICD10:E75.2" "PMID:35347128" "OMIM:242600" "MESH:C536285" @@ -9859,8 +9859,6 @@ "Orphanet:504523" "GARD:17938" "DOID:0111983" - "OMIM:309580" - "ICD10:Q87.0" "MESH:D007340" "DOID:3892" "MedDRA:10022498" @@ -9874,6 +9872,8 @@ "MBA:174" "EFO:0003478" "ZFA:0000059" + "OMIM:309580" + "ICD10:Q87.0" "PMID:28240269" "CAS:123-91-1" "KEGG:C14440" @@ -10885,6 +10885,11 @@ "ICD10CM:H35.5" "DOID:0110826" "ICD10:K76.8" + "UMLS:C1862840" + "OMIM:614149" + "OMIM:107000" + "MeSH:C536378" + "ICD10:Q84.3" "RRID:CVCL_Z232" "NCIt:C111071" "CLO:0008922" @@ -10904,11 +10909,6 @@ "NCIT:C84542" "MedDRA:10013976" "MESH:D000377" - "UMLS:C1862840" - "OMIM:614149" - "OMIM:107000" - "MeSH:C536378" - "ICD10:Q84.3" "PMID:34503513" "PMID:23443545" "UMLS:C0228411" @@ -11272,20 +11272,6 @@ "AAO:0010426" "MAT:0000343" "EV:0100372" - "ICD10:G60.1" - "UMLS:C0282527" - "OMIM:614863" - "OMIM:614920" - "OMIM:614885" - "OMIM:614877" - "OMIM:614873" - "OMIM:614887" - "OMIM:202370" - "OMIM:266510" - "MeSH:D052919" - "OMIM:614871" - "OMIM:614867" - "OMIM:601539" "UMLS:C0553980" "MEDGEN:107513" "MeSH:D004719" @@ -11302,6 +11288,20 @@ "OMIM:301074" "UMLS:C5575495" "MEDGEN:1808082" + "ICD10:G60.1" + "UMLS:C0282527" + "OMIM:614863" + "OMIM:614920" + "OMIM:614885" + "OMIM:614877" + "OMIM:614873" + "OMIM:614887" + "OMIM:202370" + "OMIM:266510" + "MeSH:D052919" + "OMIM:614871" + "OMIM:614867" + "OMIM:601539" "HMDB:HMDB0001377" "KEGG:D00003" "PMID:18210929" @@ -11580,15 +11580,15 @@ "PMID:28240269" "SNOMEDCT:38151008" "NCIt:C64840" + "PMID:3857588" + "CLO:0001137" + "RRID:CVCL_3040" "MEDGEN:82706" "SCTID:78572006" "UMLS:C0265316" "NANDO:2100220" "MESH:D020752" "NCIT:C84348" - "PMID:3857588" - "CLO:0001137" - "RRID:CVCL_3040" "UMLS:CN225947" "Orphanet:399805" "MONDO:0005663" @@ -11977,12 +11977,12 @@ "MAT:0000051" "EHDAA:2993" "galen:Stomach" - "BTO:0004626" "MeSH:C536201" "UMLS:C1869122" "OMIM:130070" "OMIM:615349" "ICD10:Q79.6" + "BTO:0004626" "Reaxys:6116536" "Beilstein:6116536" "MetaCyc:CPD-14292" @@ -12022,14 +12022,14 @@ "RRID:CVCL_0481" "PMID:29875488" "PMID:35347128" + "ICD10:Q87.8" + "UMLS:C0265248" + "OMIM:180870" "UMLS:C3554576" "GARD:17528" "Orphanet:352712" "OMIM:615139" "MEDGEN:767490" - "ICD10:Q87.8" - "UMLS:C0265248" - "OMIM:180870" "KEGG COMPOUND:C00322" "HMDB:0000225" "OMIM:618850" @@ -12680,9 +12680,9 @@ "DOID:0081364" "UMLS:C4310693" "MEDGEN:934660" + "PMID:35347128" "UMLS:C1384606" "SNOMEDCT_US:71315007" - "PMID:35347128" "GARD:16556" "MEDGEN:320374" "UMLS:C1834523" @@ -12698,6 +12698,12 @@ "UMLS:C0270733" "MESH:D020955" "DOID:4751" + "Orphanet:435953" + "DOID:0111264" + "GARD:17722" + "UMLS:C4015461" + "MEDGEN:863898" + "OMIM:616200" "KEGG:C17690" "SNOMEDCT:57406009" "MEDGEN:2856" @@ -12718,12 +12724,6 @@ "MESH:D002349" "NCIt:C34450" "ICD10:S54" - "Orphanet:435953" - "DOID:0111264" - "GARD:17722" - "UMLS:C4015461" - "MEDGEN:863898" - "OMIM:616200" "CLO:0037142" "BTO:0002381" "RRID:CVCL_1416" @@ -13292,6 +13292,10 @@ "PMID:34503513" "OMIM:613985" "SCDO:0000251" + "UMLS:C0268248" + "Orphanet:99022" + "SCTID:73399005" + "MEDGEN:82781" "MESH:D014471" "CALOHA:TS-1082" "EHDAA:1034" @@ -13312,10 +13316,6 @@ "UMLS:C0553706" "UMLS:C0085681" "SNOMEDCT_US:20165001" - "UMLS:C0268248" - "Orphanet:99022" - "SCTID:73399005" - "MEDGEN:82781" "PMID:15198722" "LINCS:LSM-19988" "PMID:11165716" @@ -13411,7 +13411,7 @@ "DOID:0080797" "Orphanet:86879" "icd11.foundation:684005900" - "PMID:29453196" + "PMID:35347128" "NIST Chemistry WebBook:59729-33-8" "HMDB:HMDB0005038" "NCIt:C61680" @@ -13437,6 +13437,7 @@ "PMID:18213744" "Wikipedia:Citalopram" "KEGG COMPOUND:59729-33-8" + "PMID:29453196" "ICD9:077.0" "MEDGEN:1095" "ICD9:077.98" @@ -13478,7 +13479,6 @@ "UMLS:C1291620" "NCIT:C131638" "Orphanet:714" - "PMID:35347128" "PMID:28240269" "Wikipedia:Wheat_streak_mosaic_virus" "OMIM:220200" @@ -13548,8 +13548,8 @@ "SCTID:40055000" "ICD9:473.9" "UMLS:C0149516" - "MONDO:0006031" "MEDGEN:101751" + "MONDO:0006031" "NCIT:C35151" "ICD9:473.8" "PMID:25838086" @@ -13630,17 +13630,17 @@ "Orphanet:93457" "MEDGEN:1842256" "GARD:19210" + "UMLS:C1335999" + "EFO:1000536" + "NCIT:C27462" + "MEDGEN:236822" + "MONDO:0006419" "UMLS:C0342847" "Orphanet:309282" "GARD:17407" "MEDGEN:575250" "NANDO:2201188" "NANDO:1200127" - "UMLS:C1335999" - "EFO:1000536" - "NCIT:C27462" - "MEDGEN:236822" - "MONDO:0006419" "OMIM:620364" "UMLS:C5830484" "MEDGEN:1841120" @@ -14297,7 +14297,6 @@ "UMLS:C3150127" "PMID:29875488" "PMID:29875488" - "PMID:36168886" "UMLS:C1291245" "Orphanet:168588" "MEDGEN:266223" @@ -14309,6 +14308,7 @@ "OMIMPS:604931" "Orphanet:247198" "GARD:17187" + "PMID:36168886" "PMID:32641083" "Orphanet:307061" "Orphanet:307064" @@ -14358,8 +14358,8 @@ "OMIM:601631" "ICD10:Q13.8" "MedDRA:10058653" - "ZFA:0005029" "HMDB:0029239" + "ZFA:0005029" "SNOMEDCT:76608007" "SCTID:67254002" "MEDGEN:52357" @@ -14575,8 +14575,8 @@ "Orphanet:71274" "GARD:0012843" "EFO:1000220" - "NCIT:C3958" "UMLS:C0267785" + "NCIT:C3958" "GARD:12843" "MEDGEN:78634" "MONDO:0006183" @@ -14629,8 +14629,6 @@ "ICD10:Q87.8" "UMLS:C1855904" "OMIM:239710" - "ICD10:G71.0" - "OMIM:603689" "OMIM:235255" "GARD:4157" "DOID:0110943" @@ -14638,18 +14636,20 @@ "MESH:C536059" "UMLS:C1850126" "MEDGEN:342420" + "ICD10:G71.0" + "OMIM:603689" "PMID:29875488" "UMLS:C3280282" "GARD:13686" "MEDGEN:481912" "DOID:0070038" "OMIM:614254" - "UMLS:C4054549" - "NCIt:C123171" "PMID:25262759" "http://flybase.org/reports/FBtc0000151.html" "FBtc:FBtc0000151" "PMID:21177962" + "UMLS:C4054549" + "NCIt:C123171" "ICD9:302.89" "ICD9:302.9" "SCTID:56627002" @@ -14765,13 +14765,13 @@ "OMIM:620007" "UMLS:C5774199" "PMID:19273619" - "EFO:0003484" "VHOG:0000269" "EMAPA:16170" "ZFA:0000080" "EHDAA:667" "TAO:0000080" "EHDAA2:0002083" + "EFO:0003484" "NCIt:C14311" "GARD:16447" "OMIM:619351" @@ -15153,15 +15153,15 @@ "MedDRA:10008803" "ICD9:117.2" "Orphanet:182" + "CAS:721-90-4" + "Reaxys:2218143" + "HMDB:HMDB0028995" "DOID:0080145" "MEDGEN:75996" "MONDO:0000871" "NCIT:C7953" "EFO:1001947" "UMLS:C0279583" - "CAS:721-90-4" - "Reaxys:2218143" - "HMDB:HMDB0028995" "GARD:9519" "DOID:0080767" "MEDGEN:299070" @@ -15191,8 +15191,8 @@ "MEDGEN:1794155" "MO:544" "MESH:C531698" - "MEDGEN:87591" "SCTID:26249004" + "MEDGEN:87591" "UMLS:C0348287" "EMAPA:37597" "MA:0002449" @@ -15521,8 +15521,8 @@ "PMID:1817037" "MetaCyc:CPD-13612" "PMID:29875488" - "PMID:30992453" "UMLS:C1142533" + "PMID:30992453" "ICD10:R71" "UMLS:C4020862" "SNOMEDCT_US:12222001" @@ -15685,11 +15685,6 @@ "icd11.foundation:1200845933" "FMA:84789" "ZFA:0009020" - "ICD10:K68.12" - "MeSH:D016659" - "MedDRA:10056517" - "ICD9:567.31" - "SNOMEDCT:266463007" "MESH:C535653" "MONDO:0007047" "Orphanet:38" @@ -15698,6 +15693,11 @@ "DOID:0060362" "GARD:125" "OMIM:101850" + "ICD10:K68.12" + "MeSH:D016659" + "MedDRA:10056517" + "ICD9:567.31" + "SNOMEDCT:266463007" "PMID:29875488" "KEGG:C05584" "BAMS:OL" @@ -15807,10 +15807,6 @@ "CAS:11116-31-7" "Gmelin:1667354" "SNOMEDCT:113678002" - "DOID:3296" - "MeSH:D004482" - "MESH:D004482" - "MONDO:0005809" "NANDO:2200937" "NCIt:C2951" "ICD9:571.5" @@ -15827,6 +15823,10 @@ "MONDO:0005155" "MedDRA:10009213" "SCTID:19943007" + "DOID:3296" + "MeSH:D004482" + "MESH:D004482" + "MONDO:0005809" "UMLS:C0406659" "MEDGEN:590585" "ICD9:701.8" @@ -15868,8 +15868,8 @@ "ZFA:0001434" "EHDAA2:0001256" "EHDAA:2871" - "TAO:0001434" "EHDAA:910" + "TAO:0001434" "VHOG:0000300" "EFO:0003688" "EMAPA:16165" @@ -16158,9 +16158,9 @@ "BTO:0000233" "NIFSTD:birnlex_1494" "NCIt:C12443" - "PMID:33067605" "OMIM:600461" "ICD10:D58.8" + "PMID:33067605" "PMID:37164013" "UMLS:C0033804" "MONDO:0005518" @@ -16621,6 +16621,8 @@ "RRID:CVCL_4388" "GARD:21582" "Orphanet:369886" + "OMIM:609640" + "ICD10:Q93.5" "CiteXplore:1787170" "PMID:12952271" "CiteXplore:12387865" @@ -16665,20 +16667,18 @@ "MESH:C567086" "GARD:18356" "MEDGEN:435867" - "OMIM:609640" - "ICD10:Q93.5" "MeSH:D011247" "MedDRA:10036556" "SNOMEDCT:289908002" "NCIt:C25742" "ICD10:Z34" "PMID:35668104" - "RRID:CVCL_6898" - "BTO:0005758" "UMLS:C0272052" "OMIM:268150" "OMIM:617970" "ICD10:D58.8" + "RRID:CVCL_6898" + "BTO:0005758" "DOID:2926" "MeSH:D007715" "UMLS:C2931529" @@ -16696,10 +16696,10 @@ "OMIM:619175" "DOID:0060919" "UMLS:C5543027" + "PMID:35347128" "UMLS:C5436756" "OMIM:619080" "MEDGEN:1742639" - "PMID:35347128" "EV:0100027" "FMA:3734" "galen:Aorta" @@ -16771,11 +16771,11 @@ "CL:0000100" "PMID:29875488" "PMID:23241746" + "OMIM:303110" "UMLS:C0599035" "MeSH:C537132" "ICD10:E72.4" "OMIM:258870" - "OMIM:303110" "Orphanet:308621" "UMLS:C5679972" "NANDO:2201159" @@ -17346,12 +17346,17 @@ "MEDGEN:337494" "UMLS:C1846044" "SCTID:763311001" - "PMID:35347128" "SNOMEDCT:54000004" "NCIt:C74488" "FBbt:00005619" + "PMID:35347128" "ICD10:E72.8" "OMIM:300438" + "MeSH:D056889" + "MedDRA:10078537" + "OMIM:302060" + "UMLS:C0574083" + "ICD10:E71.1" "MONDO:0005995" "MEDGEN:11908" "SCTID:33710003" @@ -17363,11 +17368,6 @@ "ICD10CM:B81.2" "MeSH:D017684" "SNOMEDCT:81789001" - "MeSH:D056889" - "MedDRA:10078537" - "OMIM:302060" - "UMLS:C0574083" - "ICD10:E71.1" "SCTID:699256006" "ICD9:759.89" "SNOMEDCT:276351002" @@ -17514,7 +17514,6 @@ "NCIt:C74718" "SNOMEDCT:117173006" "MedDRA:10044089" - "PMID:35050183" "NCIT:C4777" "MEDGEN:181751" "DOID:0060087" @@ -17526,6 +17525,7 @@ "SCTID:725166005" "Orphanet:93329" "OMIM:258315" + "PMID:35050183" "UMLS:C1867446" "UMLS:C1837260" "PMID:35995766" @@ -18104,11 +18104,11 @@ "NCIt:C26976" "OMIM:238320" "ICD10:Q56.1" - "PMID:29875488" "PMID:33430342" "SNOMEDCT_US:87065009" "MEDDRA:10028698" "UMLS:C0221260" + "PMID:29875488" "UMLS:C1857068" "OMIM:224800" "MESH:C565606" @@ -18199,8 +18199,6 @@ "MONDO:0006316" "NCIT:C6963" "UMLS:C1334953" - "ICD10:E74.0" - "OMIM:300257" "PMID:28526231" "Wikipedia:Endocrine_disruptor" "PMID:28356401" @@ -18225,6 +18223,8 @@ "DOID:8778" "SCTID:7620006" "ICD10:K50" + "ICD10:E74.0" + "OMIM:300257" "NCIt:C17651" "MeSH:D049629" "MedDRA:10060734" @@ -18453,6 +18453,7 @@ "MEDGEN:75907" "DOID:6053" "NCIT:C7928" + "PMID:24816252" "UMLS:C1851943" "NANDO:1200515" "GARD:10138" @@ -18461,7 +18462,6 @@ "Orphanet:98805" "DOID:0090041" "OMIM:128101" - "PMID:24816252" "UMLS:C4025670" "GARD:9634" "SCTID:401138005" @@ -18618,12 +18618,12 @@ "UMLS:C5680918" "Orphanet:231120" "MEDGEN:1826157" - "PMID:35773277" "SCTID:388604008" "SNOMEDCT:388604008" "MEDGEN:693918" "MONDO:0005250" "UMLS:C1270169" + "PMID:35773277" "PMID:19213877" "Wikipedia:Ribosome_profiling" "CLO:0007129" @@ -18823,14 +18823,14 @@ "BTO:0000645" "FMA:14548" "MAT:0000314" - "GARD:1140" - "Orphanet:98988" - "UMLS:C1855179" - "MEDGEN:340806" "UMLS:C1863006" "OMIM:104570" "MeSH:C538245" "ICD10:Q82.4" + "GARD:1140" + "Orphanet:98988" + "UMLS:C1855179" + "MEDGEN:340806" "SNOMEDCT:36209000" "NCIt:C112824" "SNOMEDCT:414662006" @@ -19326,18 +19326,18 @@ "Wikipedia:Phenols" "UMLS:C2931402" "OMIM:219721" - "PMID:35347128" - "PMID:23823483" "MEDGEN:452440" "ICD9:483.1" "DOID:0040083" "UMLS:C0339959" "MESH:D061387" "SCTID:233609002" + "PMID:35347128" "NCIT:C128405" "UMLS:C0276139" "SCTID:70189005" "MEDGEN:547113" + "PMID:23823483" "Germplasm:4640315" "UMLS:C5551334" "ICD9:127.3" @@ -19447,14 +19447,14 @@ "MONDO:0000266" "MeSH:D055732" "PMID:29875488" - "OMIM:271250" - "ICD10:G11.1" "GARD:9350" "MEDGEN:75829" "NCIT:C3997" "UMLS:C0278510" "NANDO:2200090" "DOID:3869" + "OMIM:271250" + "ICD10:G11.1" "PMID:34503513" "PMID:25326703" "RRID:CVCL_2195" @@ -19600,11 +19600,11 @@ "Orphanet:139444" "DOID:0060088" "Orphanet:295205" - "PMID:29875488" "PMID:28240269" "UMLS:C1853383" "UMLS:C1839767" "UMLS:C1850072" + "PMID:29875488" "OMIMPS:601678" "Orphanet:112" "ICD9:255.13" @@ -19917,8 +19917,8 @@ "MEDGEN:233391" "NCIT:C5549" "UMLS:C1335683" - "RRID:CVCL_1261" "CLO:0003650" + "RRID:CVCL_1261" "FMA:84664" "SNOMEDCT:337915000" "NCIt:C14366" @@ -20121,6 +20121,7 @@ "ICDO:8201/2" "UMLS:C1334248" "NCIT:C5138" + "ICD10:Q69.2" "UMLS:C0279698" "MEDGEN:76017" "NCIT:C3871" @@ -20128,7 +20129,6 @@ "EFO:1000058" "NCIT:C167265" "MESH:C538339" - "ICD10:Q69.2" "ICD9:348.2" "MEDGEN:18732" "MedDRA:10037149" @@ -20285,11 +20285,11 @@ "NCIT:C6163" "UMLS:C1332563" "DOID:6481" - "ICD10:I71.0" - "OMIM:607086" "OMIM:613028" "UMLS:C2751642" "MEDGEN:414431" + "ICD10:I71.0" + "OMIM:607086" "PMID:37164013" "OMIM:619177" "DOID:0112273" @@ -20557,16 +20557,16 @@ "ICD10:H35.5" "OMIM:129200" "ICD10:Q82.8" + "UMLS:C1832408" + "MeSH:C536072" + "OMIM:601379" + "ICD10:Q87.0" "OMIM:194190" "MedDRA:10050361" "MeSH:C536740" "MeSH:D054877" "ICD10:Q93.3" "UMLS:C1956097" - "UMLS:C1832408" - "MeSH:C536072" - "OMIM:601379" - "ICD10:Q87.0" "UMLS:C0021655" "SNOMEDCT_US:48606007" "UMLS:C0796184" @@ -21276,9 +21276,9 @@ "Reaxys:9894883" "KEGG COMPOUND:108212-75-5" "PMID:15099529" + "PMID:12606118" "CiteXplore:2753814" "MeSH:C055955" - "PMID:12606118" "CAS:108212-75-5" "CiteXplore:1584797" "PMID:2753814" @@ -21351,10 +21351,10 @@ "UMLS:C0238518" "EFO:1000620" "PMID:34503513" - "PMID:23129659" "BTO:0000661" "RRID:CVCL_0065" "CLO:0007043" + "PMID:23129659" "DOID:0060294" "Orphanet:157820" "OMIMPS:272430" @@ -21774,15 +21774,15 @@ "MEDGEN:335822" "OMIM:607864" "PMID:28240269" - "Orphanet:222628" - "GARD:20545" - "UMLS:C5680891" - "MEDGEN:1842934" "OMIM:129400" "MeSH:C535289" "UMLS:C1785148" "OMIM:106260" "ICD10:Q82.4" + "Orphanet:222628" + "GARD:20545" + "UMLS:C5680891" + "MEDGEN:1842934" "UMLS:C0154701" "DOID:862" "ICD9:344.2" @@ -22166,13 +22166,13 @@ "DOID:117" "NCIT:C3548" "MESH:D006338" + "PMID:29875488" "MESH:D012874" "UMLS:C0156279" "ICD9:597.81" "MEDGEN:510225" "DOID:13498" "SCTID:31273004" - "PMID:29875488" "Wikipedia:Syncytiotrophoblast" "FMA:83040" "NCIT:C33918" @@ -22440,6 +22440,8 @@ "KNApSAcK:C00007288" "MetaCyc:GLYCEROL-3P" "NCIt:C4508" + "UMLS:C0545131" + "NCIt:C98494" "OMIM:604360" "UMLS:C1858479" "DOID:0110764" @@ -22448,8 +22450,6 @@ "SCTID:715491000" "NCIT:C148317" "Orphanet:2822" - "UMLS:C0545131" - "NCIt:C98494" "NCIt:C85050" "PMID:29093273" "Orphanet:369979" @@ -22831,9 +22831,9 @@ "MedDRA:10084239" "UMLS:C0796110" "OMIM:311450" - "PMID:35668104" "PMID:28369058" "PMID:27182965" + "PMID:35668104" "MEDGEN:41610" "MESH:D004198" "UMLS:C0012655" @@ -22855,14 +22855,14 @@ "UMLS:C5543038" "MEDGEN:1782465" "OMIM:619178" + "MEDGEN:1794248" + "OMIM:619651" + "UMLS:C5562038" "MedDRA:10008909" "MedDRA:10008915" "UMLS:C0019189" "NCIt:C82978" "SNOMEDCT:76783007" - "MEDGEN:1794248" - "OMIM:619651" - "UMLS:C5562038" "KEGG:C06894" "PMID:11322179" "PMID:19069618" @@ -23150,6 +23150,13 @@ "SCTID:126635000" "NCIT:C3260" "PMID:30450575" + "MEDGEN:383840" + "UMLS:C1856127" + "GARD:10045" + "Orphanet:79303" + "OMIM:235555" + "DOID:0111069" + "MESH:C535443" "MEDGEN:43825" "MESH:D007078" "UMLS:C0020876" @@ -23158,13 +23165,6 @@ "DOID:10156" "SCTID:126835002" "NCIT:C3130" - "MEDGEN:383840" - "UMLS:C1856127" - "GARD:10045" - "Orphanet:79303" - "OMIM:235555" - "DOID:0111069" - "MESH:C535443" "UMLS:C4023681" "Orphanet:182127" "GARD:2005" @@ -23984,8 +23984,8 @@ "MEDGEN:815853" "OMIM:615439" "DOID:0110025" - "UMLS:C4021601" "PMID:35347128" + "UMLS:C4021601" "ICDO:8244/3" "NCIT:C4139" "MEDGEN:83124" @@ -24082,8 +24082,8 @@ "CALOHA:TS-1098" "UMLS:C0227829" "Wikipedia:Vaginal_portion_of_cervix" - "PMID:29875488" "MAT:0000478" + "PMID:29875488" "NCIt:C16033" "ICD10:Z48" "ICD10:Z42" @@ -24156,11 +24156,6 @@ "SNOMEDCT:214001" "MeSH:D013295" "PMID:31015401" - "UMLS:C1336750" - "MEDGEN:237009" - "DOID:8162" - "NCIT:C6042" - "ONCOTREE:OAT" "MedDRA:10029228" "MESH:D009437" "MONDO:0021667" @@ -24171,6 +24166,11 @@ "NCIt:C79695" "SCTID:16269008" "MEDGEN:18010" + "UMLS:C1336750" + "MEDGEN:237009" + "DOID:8162" + "NCIT:C6042" + "ONCOTREE:OAT" "MEDGEN:1648360" "OMIM:618272" "UMLS:C4748924" @@ -24423,11 +24423,11 @@ "GARD:18747" "Orphanet:1772" "PMID:28240269" - "PMID:21085120" "Orphanet:397695" "UMLS:C4749427" "MEDGEN:1651953" "GARD:21633" + "PMID:21085120" "ICD10CM:I86.2" "DOID:9742" "MEDGEN:510082" @@ -24630,11 +24630,11 @@ "GARD:3514" "PMID:35995766" "NCIt:C16149" - "ZFS:0000020" "MEDGEN:1648365" "UMLS:C4749028" "DOID:0111853" "OMIM:618300" + "ZFS:0000020" "SCTID:361097006" "MESH:D001808" "NCIT:C12679" @@ -24852,9 +24852,9 @@ "MeSH:D005335" "ICD10:R50" "NCIt:C4720" - "PMID:29875488" "UMLS:C4025357" "UMLS:C0878621" + "PMID:29875488" "UMLS:C0410648" "SNOMEDCT_US:240220009" "UMLS:C1332875" @@ -25012,8 +25012,6 @@ "GARD:20718" "UMLS:C4329632" "Orphanet:251870" - "OMIM:607080" - "ICD10:Q56.1" "Orphanet:98991" "MedDRA:10057735" "UMLS:C5681644" @@ -25030,6 +25028,8 @@ "ICD9:082.49" "UMLS:C0483368" "DOID:0050025" + "OMIM:607080" + "ICD10:Q56.1" "MEDGEN:543189" "DOID:12571" "SCTID:392300000" @@ -25097,9 +25097,9 @@ "GARD:1687" "Orphanet:3220" "SCTID:721085000" + "PMID:18516045" "PMID:11807979" "RRID:CVCL_8800" - "PMID:18516045" "GARD:16977" "SCTID:237891005" "DOID:0050947" @@ -25533,6 +25533,7 @@ "OMIM:231100" "UMLS:C1963788" "MEDGEN:1843468" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM19043&Product=CC" "KEGG:D08098" "CAS:6740-88-1" "Drug_Central:1523" @@ -25554,7 +25555,6 @@ "DOID:0050697" "https://en.wikipedia.org/wiki/Chorioamnionitis" "MONDO:0000409" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM19043&Product=CC" "Orphanet:309028" "icd11.foundation:1858691234" "GARD:21316" @@ -25896,6 +25896,8 @@ "Orphanet:178389" "MESH:C567354" "PMID:29875488" + "RRID:CVCL_D7E6" + "PMID:22325559" "MEDGEN:482832" "GARD:16462" "DOID:0070043" @@ -25911,8 +25913,6 @@ "MESH:C538380" "SCTID:30287008" "NCIT:C129029" - "RRID:CVCL_D7E6" - "PMID:22325559" "DOID:14555" "MONDO:0001998" "MedDRA:10017065" @@ -26008,8 +26008,6 @@ "DOID:11885" "MESH:D014516" "MEDGEN:102303" - "OMIM:614199" - "ICD10:N04" "NCIT:C84353" "MEDGEN:140795" "SCTID:237091009" @@ -26021,6 +26019,8 @@ "BTO:0002875" "RRID:CVCL_3871" "PMID:10702418" + "OMIM:614199" + "ICD10:N04" "UMLS:C0685409" "SNOMEDCT_US:29271008" "UMLS:C0035615" @@ -26099,13 +26099,13 @@ "MedDRA:10038084" "MeSH:D020047" "SNOMEDCT:447072005" + "NCIT:C156787" "MEDGEN:97992" "Orphanet:100031" "SCTID:109476006" "UMLS:C0399367" "GARD:645" "ICD9:520.5" - "NCIT:C156787" "GARD:17273" "Orphanet:275872" "MESH:C566288" @@ -26369,14 +26369,14 @@ "PMID:28240269" "PMID:29875488" "FBdv:00005330" - "GARD:16872" - "Orphanet:98915" "SNOMEDCT:51253001" "SCTID:764690001" "GARD:12480" "UMLS:C4707057" "Orphanet:96055" "MEDGEN:1640242" + "GARD:16872" + "Orphanet:98915" "OMIM:300855" "DOID:0050781" "Orphanet:276432" @@ -26502,7 +26502,6 @@ "Orphanet:137646" "OMIM:615989" "NCIt:C28491" - "OMIM:613680" "GARD:9706" "OMIM:193230" "MESH:C536677" @@ -26511,6 +26510,7 @@ "ICD10CM:H35.5" "Orphanet:91496" "MEDGEN:395476" + "OMIM:613680" "ICD10:G11.3" "OMIM:208920" "PMID:29875488" @@ -26731,8 +26731,8 @@ "NLXANAT:090902" "TAO:0005250" "ZFA:0005250" - "PMID:24816252" "ZFA:0005004" + "PMID:24816252" "SNOMEDCT:432195008" "SNOMEDCT:3583002" "NCIt:C73851" @@ -27047,13 +27047,10 @@ "OMIM:261990" "MeSH:C537398" "PMID:28240269" - "MeSH:D016665" "PMID:23823483" + "MeSH:D016665" "UMLS:C3272957" "NCIt:C96679" - "MEDGEN:1781649" - "OMIM:619229" - "UMLS:C5543202" "MESH:D005258" "Orphanet:47612" "MEDGEN:4674" @@ -27068,6 +27065,9 @@ "GARD:8234" "NORD:1135" "SCTID:57160007" + "MEDGEN:1781649" + "OMIM:619229" + "UMLS:C5543202" "NANDO:2200469" "Orphanet:28378" "GARD:3105" @@ -28262,6 +28262,8 @@ "OMIM:236400" "OMIM:143050" "ICD10:Q74.0" + "FBbt:00005567" + "VFB:FBbt_00001315" "MEDGEN:890580" "GARD:3360" "SCTID:145831000119103" @@ -28271,8 +28273,6 @@ "NCIT:C4925" "UMLS:C4048549" "GARD:0003360" - "FBbt:00005567" - "VFB:FBbt_00001315" "PMID:29875488" "SCTID:717821004" "GARD:17254" @@ -28357,12 +28357,12 @@ "MEDGEN:351246" "DOID:0070214" "MESH:C538376" - "FBdv:00005332" "GARD:19300" "UMLS:C4272018" "MEDGEN:1637768" "Orphanet:96059" "SCTID:764628000" + "FBdv:00005332" "PMID:28240269" "UMLS:C1855465" "ICD10CM:H35.5" @@ -28469,6 +28469,7 @@ "UMLS:C0752130" "MONDO:0020688" "MeSH:D020760" + "PMID:28240269" "TAO:0009167" "ZFA:0009167" "SAEL:3" @@ -28482,7 +28483,6 @@ "EMAPA:18426" "MA:0000116" "FMA:69262" - "PMID:28240269" "PMID:29875488" "ICD10:N46" "PMID:29875488" @@ -28548,11 +28548,11 @@ "PMID:29875488" "PMID:33634981" "PMID:32641083" - "NCIt:C142287" "MEDGEN:277663" "UMLS:C1336066" "DOID:4334" "NCIT:C7297" + "NCIt:C142287" "PDBeChem:OMD" "Reaxys:2692860" "Wikipedia:Homogentisic_acid" @@ -29320,9 +29320,9 @@ "SNOMEDCT:271062006" "OMIM:606593" "ICD10:D81.1" + "PMID:28240269" "PO:0025022" "SNOMEDCT:12170000" - "PMID:28240269" "MEDGEN:231071" "NCIT:C5376" "DOID:4510" @@ -29417,6 +29417,7 @@ "MONDO:0006898" "UMLS:C0031037" "DOID:2964" + "PMID:29875488" "UMLS:C2677613" "MESH:C567439" "OMIM:612001" @@ -29426,7 +29427,6 @@ "MEDGEN:393784" "DOID:0060394" "GARD:10296" - "PMID:29875488" "MONDO:0006804" "GARD:0006784" "MedDRA:10006205" @@ -29615,13 +29615,13 @@ "DOID:6067" "MEDGEN:235419" "PMID:29875488" - "PMID:35347128" "MESH:D011557" "MONDO:0005932" "UMLS:C0033839" "MeSH:D011557" "DOID:3902" "MEDGEN:18730" + "PMID:35347128" "CAS:147700-11-6" "Beilstein:8153842" "MeSH:C081320" @@ -29669,8 +29669,8 @@ "ICDO:8520/3" "SCTID:278054005" "MEDGEN:64634" - "PMID:28240269" "Orphanet:295077" + "PMID:28240269" "PMID:25101718" "GARD:19067" "UMLS:C4305255" @@ -29966,11 +29966,11 @@ "LIPID_MAPS_instance:LMSP07000001" "Reaxys:52571" "PMID:21259322" + "PMID:29875488" "GARD:18921" "Orphanet:73230" "MEDGEN:928495" "UMLS:C4302826" - "PMID:29875488" "SNOMEDCT:258720002" "NCIt:C48517" "MO:743" @@ -30095,12 +30095,12 @@ "OMIM:609128" "ICD10:Q68.8" "PMID:30659259" + "PMID:28240269" "NCIT:C4055" "UMLS:C0281784" "MEDGEN:129095" "SCTID:724171006" "DOID:4587" - "PMID:28240269" "NCIT:C32205" "EMAPA:35897" "FMA:15928" @@ -30425,13 +30425,13 @@ "NCIT:C34403" "HP:0002634" "SCTID:72092001" + "FBdv:00005334" "GARD:19301" "SCTID:764629008" "MEDGEN:419849" "MESH:C537762" "Orphanet:96060" "UMLS:C2931603" - "FBdv:00005334" "NCIT:C8985" "NCIT:C8987" "DOID:5482" @@ -30588,9 +30588,9 @@ "Gmelin:917" "PMID:3712373" "Reaxys:1098352" - "MAT:0000002" "OMIM:601419" "ICD10:G71.8" + "MAT:0000002" "UMLS:C1858712" "OMIM:604187" "MeSH:C537482" @@ -30615,6 +30615,12 @@ "DOID:8717" "MedDRA:10011985" "ICD10:L89" + "ICD10:D51.9" + "ICD10:D51.8" + "ICD10:D51.3" + "ICD10:D51.2" + "ICD10:D51.1" + "ICD10:D51.0" "SCTID:763797003" "UMLS:C0796124" "GARD:4528" @@ -30628,12 +30634,6 @@ "UMLS:C2931722" "Orphanet:2235" "GARD:1234" - "ICD10:D51.9" - "ICD10:D51.8" - "ICD10:D51.3" - "ICD10:D51.2" - "ICD10:D51.1" - "ICD10:D51.0" "MEDGEN:129219" "icd11.foundation:792755706" "NCIT:C36171" @@ -31535,13 +31535,13 @@ "MEDGEN:333474" "UMLS:C1840061" "PMID:26068415" + "MedDRA:10074712" "NANDO:2200284" "Orphanet:1456" "GARD:18723" "MEDGEN:758831" "SCTID:471268000" "UMLS:C3496579" - "MedDRA:10074712" "Wikipedia:Innate_immune_system" "DECIPHER:7" "NANDO:2200955" @@ -31573,12 +31573,14 @@ "MEDGEN:728086" "MONDO:0000536" "DOID:0050921" - "OMIM:300886" "ZFA:0009017" "NCIt:C13014" "CALOHA:TS-1195" "SNOMEDCT:53945006" "FMA:83553" + "OMIM:300886" + "PMID:28240269" + "http://orcid.org/0000-0001-9043-693X" "ICD9:774.4" "MEDGEN:510683" "MONDO:0006595" @@ -31586,8 +31588,6 @@ "SCTID:10877007" "DOID:11452" "MedDRA:10034513" - "PMID:28240269" - "http://orcid.org/0000-0001-9043-693X" "GARD:17724" "Orphanet:436151" "UMLS:C5543206" @@ -31665,12 +31665,12 @@ "UMLS:C1832423" "PMID:29875488" "PMID:29875488" - "SCTID:50330009" - "UMLS:C0750946" - "MEDGEN:148206" "Orphanet:261893" "icd11.foundation:1109271336" "GARD:20809" + "SCTID:50330009" + "UMLS:C0750946" + "MEDGEN:148206" "UMLS:C0013364" "OMIM:223900" "MeSH:D004402" @@ -31730,7 +31730,6 @@ "MESH:C536840" "UMLS:C0431637" "MeSH:C537371" - "PMID:23823483" "MEDGEN:335399" "SCTID:700111000" "OMIM:607364" @@ -31738,6 +31737,7 @@ "DOID:0110144" "UMLS:C1846343" "GARD:9659" + "PMID:23823483" "PMID:28928442" "PMID:29875488" "Orphanet:295079" @@ -31891,6 +31891,7 @@ "MONDO:0006536" "MedDRA:10053432" "NORD:998" + "PMID:35347128" "PMID:28240269" "PMID:1146729" "PMID:31957471" @@ -31956,7 +31957,6 @@ "FooDB:FDB002431" "HMDB:HMDB0001492" "PMID:11811542" - "PMID:35347128" "DOID:0050722" "MESH:C566618" "MEDGEN:400935" @@ -32112,18 +32112,18 @@ "UMLS:C1519651" "NCIT:C37866" "GARD:7060" - "UMLS:C1336522" - "MONDO:0006436" - "EFO:1000555" - "NCIT:C5935" - "MEDGEN:277773" - "SCTID:423189008" "MEDGEN:1810905" "OMIM:619845" "UMLS:C5676970" "NCIt:C74475" "MeSH:D029741" "SNOMEDCT:86147000" + "UMLS:C1336522" + "MONDO:0006436" + "EFO:1000555" + "NCIT:C5935" + "MEDGEN:277773" + "SCTID:423189008" "PMID:31396565" "DOID:6554" "ICDO:8313/3" @@ -32486,22 +32486,22 @@ "MONDO:0006566" "DOID:161" "PMID:29875488" + "PMID:32641083" "UMLS:C2698870" "NCIt:C74619" - "PMID:32641083" "MEDGEN:1781858" "Orphanet:439849" "NCIT:C176624" "UMLS:C5447331" "GARD:21834" + "SNOMEDCT:114163003" + "NCIt:C86657" + "MeSH:D016966" "SCTID:267619000" "GARD:21260" "Orphanet:306648" "MEDGEN:573080" "UMLS:C0339317" - "SNOMEDCT:114163003" - "NCIt:C86657" - "MeSH:D016966" "MEDGEN:1785588" "OMIM:619226" "UMLS:C5543184" @@ -32840,6 +32840,7 @@ "NCIT:C131526" "PMID:28240269" "Orphanet:261559" + "Orphanet:573163" "OMIM:606056" "SCTID:725028009" "MEDGEN:342954" @@ -32848,7 +32849,6 @@ "UMLS:C1853736" "Orphanet:79330" "GARD:10767" - "Orphanet:573163" "NCIt:C121630" "Orphanet:1416" "UMLS:C0856830" @@ -33053,8 +33053,8 @@ "MEDGEN:1826141" "GARD:21403" "Orphanet:316240" - "SNOMEDCT:438470009" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02798&Product=CC" + "SNOMEDCT:438470009" "OMIM:608571" "ICD10:Q73.8" "Orphanet:220386" @@ -33365,6 +33365,7 @@ "GARD:12174" "UMLS:C0431697" "ICD10:Q61.4" + "PMID:29875488" "PMID:29875488" "MedDRA:10029155" "MedDRA:10067571" @@ -33374,7 +33375,6 @@ "DOID:6082" "MEDGEN:208758" "UMLS:C0796663" - "PMID:29875488" "DOID:397" "SNOMEDCT:415295002" "NCIt:C62798" @@ -33422,8 +33422,8 @@ "SCTID:32236000" "UMLS:C0239737" "ICD9:528.6" - "PMID:28240269" "Orphanet:295081" + "PMID:28240269" "UMLS:C0023518" "SNOMEDCT_US:111583006" "MeSH:D002522" @@ -33777,14 +33777,6 @@ "SCTID:717772000" "ICD10:Q87.8" "PMID:28240269" - "OMIM:613002" - "OMIM:614849" - "ICD10:B00.4+" - "OMIM:617900" - "OMIM:616532" - "ICD10:G05.1*" - "OMIM:614850" - "OMIM:610551" "CAS:30344-00-4" "PMID:15827267" "PMID:16380646" @@ -33808,6 +33800,14 @@ "PMID:21278301" "PMID:11437716" "PMID:21303648" + "OMIM:613002" + "OMIM:614849" + "ICD10:B00.4+" + "OMIM:617900" + "OMIM:616532" + "ICD10:G05.1*" + "OMIM:614850" + "OMIM:610551" "UMLS:C0232180" "SNOMEDCT_US:442119001" "SNOMEDCT_US:253175003" @@ -34015,12 +34015,12 @@ "DOID:0050772" "MEDGEN:409988" "ICD10CM:G11.4" - "PMID:33634981" " CLO:0051612" " CLO:0007905" "BTO:0005493" "CLO:0007904" "RRID:CVCL_0593" + "PMID:33634981" "Orphanet:293199" "ICD9:171.9" "ONCOTREE:PLRMS" @@ -34421,13 +34421,13 @@ "CLO:0007825" "BTO:0000873" "RRID:CVCL_0013" + "PMID:29875488" "GARD:1058" "UMLS:C5190611" "OMIM:302030" "Orphanet:391327" "MEDGEN:1674665" "MESH:C537963" - "PMID:29875488" "UMLS:C1333799" "MESH:C535650" "MEDGEN:232237" @@ -34493,13 +34493,13 @@ "OMIM:608670" "MEDGEN:325196" "MESH:C563880" - "OMIM:141350" - "ICD10:Q67.4" "MedDRA:10070179" "ICD10:N04.1" "UMLS:C0950121" "OMIM:194080" "MeSH:D030321" + "OMIM:141350" + "ICD10:Q67.4" "OMIM:176200" "ICD10:E80.2" "SCTID:724170007" @@ -34762,6 +34762,7 @@ "UMLS:C0270204" "Reaxys:5389720" "HMDB:HMDB0029068" + "PMID:29875488" "SNOMEDCT:314067002" "ICD10CM:K86.81" "NCIT:C84316" @@ -34772,7 +34773,6 @@ "DOID:13316" "UMLS:C0267963" "Wikipedia:Memory" - "PMID:29875488" "OMIM:308830" "GARD:3099" "MESH:C536158" @@ -34798,8 +34798,8 @@ "Orphanet:58220" "MedDRA:10056979" "UMLS:C0400821" - "SCTID:235753003" "SNOMEDCT:235753003" + "SCTID:235753003" "MONDO:0000702" "NCIT:C38504" "DOID:0060182" @@ -35171,9 +35171,9 @@ "SNOMEDCT:14420006" "MeSH:D009620" "FMA:6230" - "ICD10:D69.1" "PMID:29875488" "PMID:29160300" + "ICD10:D69.1" "DOID:11465" "MESH:D001342" "SCTID:128123007" @@ -35292,16 +35292,23 @@ "Orphanet:643538" "OMIM:616863" "PMID:29875488" + "ICD10:Q10.3" "Orphanet:238666" "ICD10CM:E23.0" "UMLS:C5679849" "MEDGEN:1842176" "GARD:20643" - "ICD10:Q10.3" "NCIt:C117213" "CLO:0001654" "RRID:CVCL_1067" "BTO:0003846" + "PMID:26068415" + "UMLS:C1852372" + "GARD:8295" + "Orphanet:1460" + "DOID:0111139" + "MEDGEN:377658" + "MedDRA:10061137" "OMIM:617253" "OMIM:606744" "OMIM:616777" @@ -35316,13 +35323,6 @@ "OMIM:614728" "OMIM:616171" "OMIM:600546" - "PMID:26068415" - "UMLS:C1852372" - "GARD:8295" - "Orphanet:1460" - "DOID:0111139" - "MEDGEN:377658" - "MedDRA:10061137" "OMIM:613076" "ICD10:G71.3" "Orphanet:500481" @@ -35548,6 +35548,12 @@ "MONDO:0005990" "SCTID:62994001" "ICD10CM:J04.1" + "NCIT:C6933" + "MEDGEN:124403" + "ICD10CM:H74.4" + "UMLS:C0271466" + "DOID:7439" + "SCTID:73103007" "NANDO:2200860" "NORD:1169" "MEDGEN:140820" @@ -35559,12 +35565,6 @@ "DOID:0050559" "NCIT:C126741" "UMLS:C0410174" - "NCIT:C6933" - "MEDGEN:124403" - "ICD10CM:H74.4" - "UMLS:C0271466" - "DOID:7439" - "SCTID:73103007" "MEDGEN:232222" "UMLS:C1333742" "NCIT:C5840" @@ -35992,7 +35992,6 @@ "DOID:2930" "MONDO:0005660" "MeSH:D045463" - "OMIM:615285" "OMIM:300607" "OMIM:300423" "OMIM:300088" @@ -36018,6 +36017,7 @@ "UMLS:C0870082" "OMIM:604314" "MeSH:D017541" + "OMIM:615285" "MEDGEN:1645733" "OMIM:618015" "UMLS:C4693947" @@ -36331,6 +36331,10 @@ "DOID:2992" "ONCOTREE:PRNE" "UMLS:C1335515" + "UMLS:C5681265" + "Orphanet:471383" + "GARD:21947" + "MEDGEN:1843298" "KEGG COMPOUND:69-72-7" "PMID:11016405" "KNApSAcK:C00000206" @@ -36374,10 +36378,6 @@ "ICD9:571.8" "UMLS:C1275088" "GARD:1993" - "UMLS:C5681265" - "Orphanet:471383" - "GARD:21947" - "MEDGEN:1843298" "MEDGEN:57579" "NCIT:C3623" "ICD9:224.4" @@ -36593,11 +36593,11 @@ "Orphanet:261579" "OMIM:274150" "ICD10:M31.3" - "PMID:28240269" - "PMID:34436474" "OMIM:256600" "ICD10:G23.0" "OMIM:610217" + "PMID:28240269" + "PMID:34436474" "PubChem:322640" "CAS:1074-79-9" "NCIT:C6618" @@ -36621,11 +36621,11 @@ "UMLS:C4310806" "SCTID:722457005" "OMIM:612018" - "RRID:CVCL_D7EM" - "PMID:30241395" "UMLS:C3280689" "MEDGEN:482319" "OMIM:614400" + "RRID:CVCL_D7EM" + "PMID:30241395" "UMLS:C1291230" "ICD10:E71.3" "Orphanet:98456" @@ -36659,7 +36659,6 @@ "DOID:62" "OMIM:218550" "ICD10:Q87.2" - "PMID:26068415" "Orphanet:482" "GARD:6835" "MESH:D000796" @@ -36671,7 +36670,9 @@ "DOID:7365" "MedDRA:10048640" "MONDO:0018830" + "PMID:26068415" "PMID:35668104" + "PMID:28240269" "CAS:54192-66-4" "LINCS:LSM-6449" "PMID:10680067" @@ -36689,7 +36690,6 @@ "OMIM:609423" "NCIt:C14220" "MedDRA:10068341" - "PMID:28240269" "MedDRA:10063361" "ICD9:759.89" "SCTID:28557005" @@ -36715,13 +36715,13 @@ "MeSH:C536564" "ICD10:Q74.8" "PMID:32641083" - "FBbt:00016000" "DOID:0110285" "Orphanet:254361" "MEDGEN:462339" "GARD:12542" "UMLS:C3150989" "OMIM:613723" + "FBbt:00016000" "PMID:29875488" "MEDGEN:1787833" "UMLS:C5543406" @@ -36960,11 +36960,11 @@ "OMIM:615513" "OMIM:616005" "ZFS:0000006" + "HMDB:0041919" "DOID:4091" "MeSH:D017250" "MONDO:0005687" "MESH:D017250" - "HMDB:0041919" "GARD:15881" "DOID:0081274" "MEDGEN:766969" @@ -37182,8 +37182,8 @@ "UMLS:C5676951" "NCIt:C12762" "FMA:54879" - "PMID:24816252" "Wikipedia:Accessory_nail_of_the_fifth_toe" + "PMID:24816252" "SCTID:128598002" "DOID:16" "MEDGEN:712400" @@ -37834,10 +37834,6 @@ "Orphanet:140474" "PMID:35050183" "PMID:34814699" - "UMLS:C5437813" - "MEDGEN:1730289" - "GARD:21228" - "Orphanet:295241" "SCTID:403762003" "OMIM:257980" "MESH:C537742" @@ -37845,6 +37841,10 @@ "GARD:4054" "Orphanet:2721" "MEDGEN:208666" + "UMLS:C5437813" + "MEDGEN:1730289" + "GARD:21228" + "Orphanet:295241" "PMID:35995766" "PMID:28240269" "ICD9:017.96" @@ -38111,7 +38111,6 @@ "XAO:0000238" "MIAA:0000050" "NCIT:C12390" - "PMID:36848389" "BTO:0000106" "MESH:D009107" "ICD9:072" @@ -38125,6 +38124,7 @@ "UMLS:C0026780" "DOID:10304" "DOID:10264" + "PMID:36848389" "ICD9:379.24" "UMLS:C0700141" "MEDGEN:1843447" @@ -38269,9 +38269,6 @@ "UMLS:C1321220" "DOID:2996" "NCIT:C5241" - "UMLS:C2930871" - "OMIM:249710" - "ICD10:Q78.8" "UMLS:C0877359" "SNOMEDCT_US:166643006" "UMLS:C1842003" @@ -38283,6 +38280,9 @@ "UMLS:C0438717" "UMLS:C0151766" "UMLS:C0438237" + "UMLS:C2930871" + "OMIM:249710" + "ICD10:Q78.8" "NCIT:C3624" "UMLS:C0154027" "ICD9:224.5" @@ -38507,8 +38507,8 @@ "DOID:1852" "MEDGEN:3042" "SCTID:235888006" - "PMID:30049742" "ZFA:0001376" + "PMID:30049742" "ICD9:780.79" "NCIt:C3037" "Wikipedia:Chronic_fatigue_syndrome" @@ -38692,7 +38692,6 @@ "PMID:29875488" "ICD10:G60.0" "PMID:29875488" - "PMID:35347128" "SCTID:297231002" "NCIT:C84585" "Orphanet:111" @@ -38706,13 +38705,14 @@ "OMIM:302060" "NANDO:2200751" "GARD:5890" + "MeSH:D028361" + "DOID:700" + "PMID:35347128" "MEDGEN:924883" "Orphanet:521390" "GARD:17957" "OMIM:617296" "UMLS:C4284592" - "MeSH:D028361" - "DOID:700" "ICD10:E26.0" "OMIM:617027" "PMID:29875488" @@ -39349,8 +39349,8 @@ "ENVO:02000032" "MA:0001286" "ZFA:0005561" - "MESH:D014822" "FMA:58822" + "MESH:D014822" "NCIT:C13323" "EV:0100344" "VHOG:0000795" @@ -39643,7 +39643,6 @@ "MA:0003192" "TAO:0000996" "NCIt:C121331" - "FBbt:00005614" "MESH:C563463" "MEDGEN:318896" "GARD:17151" @@ -39651,6 +39650,7 @@ "Orphanet:228308" "UMLS:C1833518" "OMIM:608836" + "FBbt:00005614" "SNOMEDCT_US:302215000" "MeSH:D013921" "UMLS:C0040034" @@ -40368,13 +40368,13 @@ "ICD9:759.89" "GARD:13" "PMID:37164013" - "MEDGEN:412713" - "UMLS:C2749485" - "OMIM:256700" "UMLS:C0279547" "MEDGEN:83522" "NCIT:C7946" "DOID:6332" + "MEDGEN:412713" + "UMLS:C2749485" + "OMIM:256700" "PMID:35347128" "OMIM:618852" "ZFA:0001082" @@ -40468,7 +40468,6 @@ "MESH:D009808" "MEDGEN:10426" "NCIT:C3286" - "PMID:36848389" "XAO:0000428" "TAO:0000295" "EV:0100491" @@ -40487,6 +40486,7 @@ "DOID:4045" "SCTID:363495004" "ICD10:C49" + "PMID:36848389" "OMIM:614326" "ICD10:Q87.8" "PMID:25079324" @@ -40635,13 +40635,13 @@ "PMID:22002881" "OMIM:607671" "ICD10:G24.1" - "PMID:37164013" "GARD:22389" "Orphanet:596008" "MEDGEN:422448" "DOID:0081290" "OMIM:207410" "UMLS:C2936791" + "PMID:37164013" "SNOMEDCT:243430004" "Orphanet:247623" "GARD:17191" @@ -40692,13 +40692,13 @@ "ICD10:Q87.2" "PMID:29875488" "PMID:29875488" - "UMLS:C4310644" - "OMIM:617260" - "MEDGEN:934611" "CLO:0008154" " CLO:0050180" "RRID:CVCL_0470" "BTO:0001976" + "UMLS:C4310644" + "OMIM:617260" + "MEDGEN:934611" "NANDO:2201077" "UMLS:C5679945" "NANDO:1200787" @@ -41258,9 +41258,9 @@ "UMLS:C1866650" "OMIM:184510" "MeSH:C537487" + "SNOMEDCT:104659004" "PubChem:22908099" "CAS:162338-11-6" - "SNOMEDCT:104659004" "PMID:33634981" "http://purl.enanomapper.org/onto/ENM_0000029" "MedDRA:10007269" @@ -41520,15 +41520,6 @@ "OMIM:222748" "UMLS:C0342803" "SCTID:238014002" - "MEDGEN:539251" - "UMLS:C0265437" - "icd11.foundation:2004070452" - "GARD:20881" - "Orphanet:262914" - "GARD:20666" - "MEDGEN:1843173" - "UMLS:C5679614" - "Orphanet:247815" "MESH:D020343" "ICD9:437.2" "ICD10CM:I67.4" @@ -41543,6 +41534,15 @@ "DOID:9427" "MONDO:0006796" "MeSH:D020343" + "MEDGEN:539251" + "UMLS:C0265437" + "icd11.foundation:2004070452" + "GARD:20881" + "Orphanet:262914" + "GARD:20666" + "MEDGEN:1843173" + "UMLS:C5679614" + "Orphanet:247815" "PMID:28240269" "MEDGEN:46202" "MONDO:0005085" @@ -41568,9 +41568,6 @@ "ICDO:9761/3" "MEDGEN:473052" "ICDO:9671/3" - "UMLS:C1263995" - "MEDGEN:688237" - "SCTID:127039000" "MONDO:0005837" "ICD9:170.1" "DOID:2338" @@ -41582,12 +41579,15 @@ "NCIT:C35178" "UMLS:C0153511" "EFO:0007356" + "UMLS:C1263995" + "MEDGEN:688237" + "SCTID:127039000" "Orphanet:247198" "TGEMO:00041" "MGI:3609372" "GAID:611" - "VHOG:0000643" "HBA:9419" + "VHOG:0000643" "BIRNLEX:1263" "SCTID:180930008" "EHDAA:3502" @@ -41600,8 +41600,8 @@ "FMA:78448" "NCIT:C12834" "EHDAA2:0001984" - "ZFA:0000696" "BM:Tel-LV" + "ZFA:0000696" "BAMS:Tel-V" "MBA:81" "UMLS:C0152279" @@ -41698,7 +41698,6 @@ "GARD:8240" "UMLS:C1840386" "MEDGEN:326724" - "PMID:35347128" "PMID:24816252" "PMID:28092691" "MESH:D002181" @@ -41715,6 +41714,7 @@ "MEDGEN:760584" "UMLS:C3267032" "NCIT:C104003" + "PMID:35347128" "OMIM:609340" "ICD10:G11.4" "PMID:29875488" @@ -41759,8 +41759,6 @@ "BFO:function" "SNOMEDCT:246464006" "SNOMEDCT:277064003" - "ICD10:Q11.2" - "OMIM:611222" "CALOHA:TS-0452" "NCIt:C32734" "FMA:67763" @@ -41769,6 +41767,8 @@ "UMLS:C5830516" "MEDGEN:1841152" "OMIM:620374" + "ICD10:Q11.2" + "OMIM:611222" "SNOMEDCT:66591004" "MONDO:0002269" "ICD10:K52" @@ -42589,6 +42589,7 @@ "SCTID:721307000" "GARD:12765" "DOID:0060888" + "ICD10:P78.3" "Wikipedia:Rotenone" "PMID:32972993" "LINCS:LSM-5260" @@ -42617,7 +42618,6 @@ "NCIt:C76087" "KNApSAcK:C00002568" "MeSH:D012402" - "ICD10:P78.3" "NCIt:C997" "SNOMEDCT:81868000" "MeSH:D008042" @@ -42684,8 +42684,6 @@ "NCIt:C54575" "SNOMEDCT:264337003" "PMID:29875488" - "RRID:CVCL_0839" - "BTO:0002260" "Orphanet:247638" "GARD:20662" "ICD10CM:E83.3" @@ -42694,6 +42692,8 @@ "MEDGEN:87254" "ICDO:9020/0" "PMID:24816252" + "RRID:CVCL_0839" + "BTO:0002260" "CAS:7440-43-9" "WebElements:Cd" "SNOMEDCT:66586000" @@ -42764,8 +42764,8 @@ "MeSH:D020144" "UMLS:C0751739" "MEDGEN:148381" - "DOID:10991" "MONDO:0006505" + "DOID:10991" "MESH:D020144" "PMID:35347128" "DOID:11503" @@ -42798,9 +42798,9 @@ "UMLS:C0432268" "MESH:C536053" "OMIM:300373" + "PMID:37164013" "OMIM:248190" "UMLS:C2931121" - "PMID:37164013" "UMLS:C0877024" "MedDRA:10048699" "OMIM:242900" @@ -42828,6 +42828,10 @@ "Orphanet:2704" "MEDGEN:98015" "UMLS:C0403555" + "UMLS:C1839129" + "OMIM:314300" + "MeSH:C536970" + "ICD10:Q87.8" "ICD9:483.0" "MESH:D011019" "MEDGEN:19363" @@ -42838,10 +42842,6 @@ "MeSH:D011019" "MONDO:0005867" "SCTID:46970008" - "UMLS:C1839129" - "OMIM:314300" - "MeSH:C536970" - "ICD10:Q87.8" "MEDGEN:382527" "UMLS:C2675112" "OMIM:612628" @@ -43163,9 +43163,9 @@ "OMIM:187600" "ICD10:Q77.4" "PMID:36168886" - "PMID:24056935" "NCIt:C106048" "MeSH:D047369" + "PMID:24056935" "CiteXplore:15686870" "PMID:19340096" "KEGG COMPOUND:C19212" @@ -43399,10 +43399,10 @@ "PMID:22429992" "MeSH:D003401" "PMID:19651674" + "PMID:35347128" "UMLS:C0018776" "NCIT:C34662" "MEDGEN:9162" - "PMID:35347128" "UMLS:C2931722" "GARD:17218" "Orphanet:254351" @@ -43745,13 +43745,13 @@ "DOID:1680" "NCIT:C27008" "PMID:29875488" - "icd11.foundation:2078345611" - "GARD:19191" - "Orphanet:93429" "MEDGEN:766702" "UMLS:C3553788" "OMIM:614820" "GARD:15845" + "icd11.foundation:2078345611" + "GARD:19191" + "Orphanet:93429" "MEDGEN:231934" "UMLS:C1332493" "NCIT:C6797" @@ -43794,8 +43794,8 @@ "DOID:0070474" "OMIM:617672" "MEDGEN:1626007" - "GARD:13658" "UMLS:C4540086" + "GARD:13658" "UMLS:C0024904" "SNOMEDCT_US:52404001" "NCIT:C35212" @@ -44075,8 +44075,8 @@ "MESH:C567363" "MEDGEN:436776" "OMIM:612286" - "NCIt:C3616" "ICD10:Q87.8" + "NCIt:C3616" "PMID:34610981" "UMLS:C0236175" "UMLS:C1862839" @@ -44203,9 +44203,9 @@ "MEDGEN:482719" "UMLS:C3281089" "GARD:15814" + "PMID:29875488" "Orphanet:100980" "UMLS:CN226594" - "PMID:29875488" "DOID:7867" "UMLS:C1370504" "NCIT:C5792" @@ -44680,11 +44680,11 @@ "BTO:0002135" "NCIt:C12473" "MeSH:D013583" + "NCIt:C61551" "UMLS:CN206810" "ICD10:Q87.3" "Orphanet:96076" "PMID:26068415" - "NCIt:C61551" "PMID:11985490" "PMID:29017833" "PMID:19625514" @@ -44985,11 +44985,11 @@ "SCTID:128073008" "SNOMEDCT:311506003" "UMLS:C4025246" - "Orphanet:785" "MeSH:C535962" "UMLS:C0432317" "OMIM:131950" "ICD10:Q81.0" + "Orphanet:785" "PMID:29875488" "SNOMEDCT:54365000" "MeSH:D015010" @@ -45087,8 +45087,8 @@ "EFO:0003054" "UMLS:C0040184" "NCIT:C12800" - "Wikipedia:Tibia" "EMAPA:19142" + "Wikipedia:Tibia" "FMA:24476" "BTO:0001252" "GAID:204" @@ -45200,8 +45200,8 @@ "OMIM:617917" "OMIM:608673" "ICD10:G60.0" - "PMID:36168886" "PMID:28240269" + "PMID:36168886" "SCTID:719166003" "GARD:10611" "Orphanet:156728" @@ -45285,11 +45285,6 @@ "SCTID:715801001" "GARD:12441" "UMLS:C3540453" - "NCIT:C6020" - "MEDGEN:233610" - "DOID:2877" - "UMLS:C1334377" - "Orphanet:98593" "UMLS:C1845987" "NANDO:2200753" "MESH:C564539" @@ -45299,6 +45294,11 @@ "OMIM:300299" "Orphanet:86788" "DOID:0112128" + "NCIT:C6020" + "MEDGEN:233610" + "DOID:2877" + "UMLS:C1334377" + "Orphanet:98593" "OMIM:615596" "ICD10:E77.8" "Gmelin:325290" @@ -45372,13 +45372,13 @@ "MONDO:0006648" "MEDGEN:1569" "MESH:D000868" + "OMIM:601042" + "ICD10:G24.8" "UMLS:C3151000" "MEDGEN:462350" "Orphanet:306547" "GARD:17380" "OMIM:613730" - "OMIM:601042" - "ICD10:G24.8" "UMLS:C1846722" "MEDGEN:335505" "SCTID:719688002" @@ -45427,9 +45427,9 @@ "MEDGEN:18377" "ICD10:I31" "UMLS:C0031046" - "MONDO:0005904" "ICD10:I30" "DOID:1787" + "MONDO:0005904" "SCTID:3238004" "NCIT:C34915" "Orphanet:58208" @@ -45483,9 +45483,9 @@ "NCIT:C123330" "DOID:4448" "MONDO:0003004" - "MedDRA:10025409" "MESH:D008268" "MEDGEN:7434" + "MedDRA:10025409" "SCTID:422338006" "GARD:2088" "Orphanet:287" @@ -45736,14 +45736,6 @@ "PMID:29875488" "PMID:35347128" "PMID:11807979" - "MEDGEN:96081" - "ICD10:M50" - "SCTID:69195002" - "MONDO:0044343" - "NCIt:C27156" - "NCIT:C27156" - "UMLS:C0410606" - "UMLS:C0158262" "SCTID:766983005" "OMIM:608957" "MESH:C563824" @@ -45753,6 +45745,14 @@ "NANDO:2200699" "MEDGEN:323058" "ZFA:0001131" + "MEDGEN:96081" + "ICD10:M50" + "SCTID:69195002" + "MONDO:0044343" + "NCIt:C27156" + "NCIT:C27156" + "UMLS:C0410606" + "UMLS:C0158262" "ICD9:750.0" "SCTID:67787004" "ICD10CM:Q38.1" @@ -45991,9 +45991,9 @@ "NCIT:C8181" "MEDGEN:76094" "Orphanet:500478" - "UMLS:C0280313" "ONCOTREE:OPHSC" "GARD:17928" + "UMLS:C0280313" "icd11.foundation:839740136" "FBbt:00005066" "MeSH:D005216" @@ -46195,8 +46195,8 @@ "UMLS:C1263887" "UMLS:CN228909" "Orphanet:100981" - "OMIMPS:314580" "http://orcid.org/0000-0003-4183-8865" + "OMIMPS:314580" "RRID:CVCL_0590" "MEDGEN:52365" "NCIT:C35025" @@ -46227,17 +46227,6 @@ "UMLS:C0340548" "OMIM:234810" "MedDRA:10077396" - "PMID:36168886" - "OMIM:619777" - "UMLS:C5676932" - "DOID:0070386" - "MEDGEN:1809351" - "MeSH:C092824" - "CiteXplore:7698199" - "PMID:7698199" - "Reaxys:8374093" - "CAS:135721-98-1" - "ChemIDplus:135721-98-1" "MedDRA:10073860" "OMIM:618475" "MEDGEN:10571" @@ -46253,6 +46242,17 @@ "SCTID:127027008" "ICDO:8680/1" "MESH:D010235" + "PMID:36168886" + "OMIM:619777" + "UMLS:C5676932" + "DOID:0070386" + "MEDGEN:1809351" + "MeSH:C092824" + "CiteXplore:7698199" + "PMID:7698199" + "Reaxys:8374093" + "CAS:135721-98-1" + "ChemIDplus:135721-98-1" "PMID:35347128" "UMLS:C0856897" "MEDGEN:208988" @@ -46572,9 +46572,9 @@ "UMLS:C0019552" "EHDAA2:0000783" "VHOG:0000346" + "EMAPA:17490" "EHDAA:5153" "BTO:0001457" - "EMAPA:17490" "MA:0000045" "galen:Hip" "EFO:0001929" @@ -46764,7 +46764,6 @@ "PMID:29875488" "PMID:35347128" "PMID:29875488" - "PMID:28240269" "ZFA:0000422" "OMIM:194300" "MEDGEN:348571" @@ -46772,6 +46771,7 @@ "UMLS:C1860238" "UMLS:C0272085" "ICD10:D57.2" + "PMID:28240269" "OMIM:620152" "MEDGEN:1824039" "UMLS:C5774266" @@ -47228,12 +47228,12 @@ "ICD9:282.49" "UMLS:C0272005" "OMIM:618158" - "PMID:35347128" "UMLS:C0270958" "SCTID:716338001" "GARD:8270" "Orphanet:2349" "MEDGEN:82860" + "PMID:35347128" "MEDGEN:233442" "NCIT:C7074" "UMLS:C1335951" @@ -47414,13 +47414,13 @@ "MeSH:D018917" "ICD9:377.41" "PMID:29875488" + "icd11.foundation:1999264345" + "Orphanet:88993" + "GARD:19095" "DOID:7050" "UMLS:C1332464" "NCIT:C6456" "MEDGEN:231420" - "icd11.foundation:1999264345" - "Orphanet:88993" - "GARD:19095" "GARD:21620" "Orphanet:391343" "MEDGEN:1657472" @@ -47574,6 +47574,11 @@ "UMLS:C0029400" "KEGG COMPOUND:C18550" "ZFA:0001132" + "ICD10:H53.6" + "MeSH:C537743" + "UMLS:C1306122" + "OMIM:258100" + "OMIM:613411" "ICD10:G61" "SCTID:716723000" "NANDO:2200905" @@ -47590,11 +47595,6 @@ "OMIM:139393" "NANDO:1200030" "PMID:28319112" - "ICD10:H53.6" - "MeSH:C537743" - "UMLS:C1306122" - "OMIM:258100" - "OMIM:613411" "PMID:26068415" "PMID:35668104" "MeSH:D015817" @@ -47683,12 +47683,6 @@ "BTO:0000293" "FMA:67325" "EV:0100170" - "NCIT:C6238" - "MONDO:0006201" - "UMLS:C1333473" - "EFO:1000246" - "DOID:2764" - "MEDGEN:232471" "MEDGEN:67439" "DOID:0050477" "NORD:2034" @@ -47703,6 +47697,12 @@ "Orphanet:526" "SCTID:707747007" "MedDRA:10052313" + "NCIT:C6238" + "MONDO:0006201" + "UMLS:C1333473" + "EFO:1000246" + "DOID:2764" + "MEDGEN:232471" "KNApSAcK:C00019688" "KEGG:C03406" "CAS:2387-71-5" @@ -47893,8 +47893,8 @@ "SCTID:61367005" "Orphanet:2311" "GARD:6798" - "OMIMPS:609308" "PMID:28240269" + "OMIMPS:609308" "PMID:24816252" "UMLS:C2930950" "ICD10:Q87.8" @@ -48388,9 +48388,9 @@ "CLO:0003647" "MeSH:C537851" "UMLS:C1859083" - "PMID:34610981" "PMID:23852452" "UMLS:C1851897" + "PMID:34610981" "PMID:31015401" "MeSH:D013298" "NCIt:C86806" @@ -48472,11 +48472,11 @@ "UMLS:C3839866" "GARD:17161" "Orphanet:231160" + "SNOMEDCT:121817007" "NCIT:C4553" "UMLS:C0346367" "MEDGEN:138061" "DOID:8400" - "SNOMEDCT:121817007" "PMID:26068415" "BTO:0002217" "DOID:5261" @@ -48484,11 +48484,6 @@ "UMLS:C1332848" "NCIT:C5364" "OMIM:614037" - "GARD:16425" - "UMLS:C5436882" - "OMIM:619133" - "MEDGEN:1771903" - "DOID:0081380" "ORDO:Orphanet_83467" "Wikipedia:Morvan%27s_syndrome" "SCTID:763803004" @@ -48498,6 +48493,11 @@ "UMLS:C3854373" "MedDRA:10075006" "MEDGEN:1632829" + "GARD:16425" + "UMLS:C5436882" + "OMIM:619133" + "MEDGEN:1771903" + "DOID:0081380" "OMIM:617711" "MeSH:D013036" "DOID:2481" @@ -48617,6 +48617,7 @@ "DOID:0110728" "MEDGEN:376792" "UMLS:C1850442" + "PMID:29875488" "MEDGEN:501212" "UMLS:C3495591" "GARD:9190" @@ -48633,7 +48634,6 @@ "MEDGEN:358387" "MESH:D054091" "DOID:0050454" - "PMID:29875488" "PMID:35347128" "NCIT:C6804" "UMLS:C0346342" @@ -48667,17 +48667,17 @@ "GARD:9980" "DOID:0111832" "MEDGEN:337122" + "MEDGEN:856014" + "OMIM:615807" + "GARD:16013" + "DOID:0070009" + "UMLS:C3891452" "MeSH:D013661" "UMLS:C1848922" "UMLS:C0039373" "ICD10:E75.0" "OMIM:272800" "MedDRA:10043147" - "MEDGEN:856014" - "OMIM:615807" - "GARD:16013" - "DOID:0070009" - "UMLS:C3891452" "UMLS:C4023342" "UMLS:C4020748" "Orphanet:139536" @@ -48777,12 +48777,12 @@ "UMLS:C0266444" "SNOMEDCT_US:5286009" "SNOMEDCT_US:702610009" + "PMID:29875488" "PMID:21602805" "UMLS:C4329660" "NCIT:C131506" "GARD:91" "MEDGEN:1374316" - "PMID:29875488" "NIF_Subcellular:sao867568886" "NIF_Subcellular:sao-867568886" "UMLS:C1834579" @@ -48899,9 +48899,9 @@ "MEDGEN:2871" "DOID:4926" "PMID:29875488" + "OMIM:618702" "GARD:19855" "Orphanet:108959" - "OMIM:618702" "OMIM:609579" "GARD:3426" "MEDGEN:355365" @@ -49039,13 +49039,13 @@ "ICD10EXP:E72.0+" "ICD10EXP:N16.3*" "PMID:28240269" - "MP:0002975" "SCTID:92027006" "DOID:0060094" "UMLS:C0684516" "NCIT:C4880" "ICD9:213.9" "MEDGEN:146337" + "MP:0002975" "EFO:0003577" "TAO:0000815" "ZFA:0000815" @@ -49205,6 +49205,7 @@ "MEDGEN:233162" "UMLS:C1334625" "NCIT:C5027" + "PMID:35347128" "DOID:0111679" "UMLS:C0268609" "SCTID:59761008" @@ -49214,7 +49215,6 @@ "MEDGEN:82823" "OMIM:229100" "Orphanet:51208" - "PMID:35347128" "PMID:29844224" "UMLS:C1834934" "Fyler:0510" @@ -49342,8 +49342,8 @@ "GARD:12356" "DOID:0070236" "UMLS:C3810012" - "OMIM:615582" "MEDGEN:816342" + "OMIM:615582" "MONDO:0014262" "MEDGEN:232156" "NCIT:C7032" @@ -49756,8 +49756,6 @@ "PMID:35995766" "Orphanet:485382" "OMIM:618723" - "UMLS:C1333977" - "NCIt:C27687" "ICD10CM:J36" "SCTID:15033003" "UMLS:C0031157" @@ -49782,6 +49780,8 @@ "EMAPA:32837" "BAMS:SA" "BM:Tel-Spt" + "UMLS:C1333977" + "NCIt:C27687" "GARD:117" "UMLS:C0265227" "ICD9:759.89" @@ -49855,19 +49855,19 @@ "DOID:2135" "SCTID:363468009" "ICD10CM:C71.2" - "PMID:31015401" "NCIT:C6187" "MEDGEN:277591" "DOID:6118" "UMLS:C1335751" "UMLS:C3279222" - "PMID:26417704" + "PMID:31015401" "DOID:0081431" "MEDGEN:1613834" "Orphanet:572773" "OMIM:617604" "GARD:18655" "UMLS:C4539873" + "PMID:26417704" "MeSH:D016158" "MEDGEN:1748867" "GARD:18570" @@ -50015,16 +50015,16 @@ "UMLS:C4280656" "SNOMEDCT_US:72239002" "PMID:29875488" - "PMID:29875488" "ICD10:E85.0" "MedDRA:10070594" - "PMID:33634981" + "PMID:29875488" "OMIM:190360" "MESH:C566032" "MEDGEN:349898" "GARD:5261" "UMLS:C1860822" "Orphanet:3361" + "PMID:33634981" "PMID:28240269" "UMLS:C0278110" "MEDGEN:124456" @@ -50406,9 +50406,9 @@ "DOID:0050659" "MESH:C537658" "PMID:27984732" + "PMID:35347128" "GARD:17828" "Orphanet:466729" - "PMID:35347128" "ICD10CM:H35.5" "NANDO:1200943" "GARD:5440" @@ -50550,16 +50550,16 @@ "OMIMPS:118100" "GARD:10280" "RRID:CVCL_5132" + "NCIT:C4874" + "SCTID:126953009" + "MEDGEN:224729" + "UMLS:C1263885" "DOID:0111782" "MEDGEN:411701" "UMLS:C2748918" "GARD:21570" "Orphanet:364541" "SNOMEDCT:32137001" - "NCIT:C4874" - "SCTID:126953009" - "MEDGEN:224729" - "UMLS:C1263885" "UMLS:CN197488" "Orphanet:102005" "GARD:10629" @@ -50998,7 +50998,6 @@ "PMID:17279692" "Gmelin:346191" "MetaCyc:ARACHIDIC_ACID" - "PMID:33634981" "Patent:US2581868" "CAS:91-80-5" "Reaxys:220729" @@ -51014,6 +51013,7 @@ "MeSH:D008701" "PMID:11137066" "Drug_Central:1738" + "PMID:33634981" "SCTID:205130008" "MEDGEN:609220" "GARD:21200" @@ -51597,9 +51597,9 @@ "VHOG:0000375" "EHDAA2:0001239" "CALOHA:TS-0663" + "SCTID:181200003" "BTO:0000662" "GAID:339" - "SCTID:181200003" "UMLS:C0027442" "MESH:D009305" "FMA:54878" @@ -51703,8 +51703,8 @@ "SNOMEDCT:372718005" "KEGG:D08070" "PMID:29844224" - "PMID:29403010" "http://www.ebi.ac.uk/efo/EFO_0005128" + "PMID:29403010" "UMLS:C4022631" "MEDGEN:1716712" "UMLS:C5394362" @@ -51944,11 +51944,6 @@ "GARD:12452" "Orphanet:268337" "MEDGEN:1843095" - "UMLS:C5679591" - "DOID:0112312" - "MEDGEN:1826006" - "GARD:12502" - "Orphanet:171709" "PMID:33078253" "PMID:16781114" "PMID:16293235" @@ -51987,6 +51982,11 @@ "PMID:23369011" "PMID:8956233" "KNApSAcK:C00003008" + "UMLS:C5679591" + "DOID:0112312" + "MEDGEN:1826006" + "GARD:12502" + "Orphanet:171709" "OMIM:245100" "UMLS:C0796136" "Orphanet:1399" @@ -52998,8 +52998,8 @@ "MeSH:D002561" "ICD10:I67" "MedDRA:10008200" - "ICD10:M76" "MEDGEN:66909" + "ICD10:M76" "MONDO:0002183" "ICD9:726.90" "ICD10:M77" @@ -53063,8 +53063,8 @@ "MeSH:D058165" "UMLS:C0795907" "UMLS:C2936346" - "DOID:3156" "PMID:28453389" + "DOID:3156" "OMIM:615182" "GARD:17540" "SCTID:713401006" @@ -53092,8 +53092,8 @@ "PMID:29875488" "PMID:27520321" "PMID:25028896" - "CALOHA:TS-1154" "MA:0000877" + "CALOHA:TS-1154" "FMA:62035" "EV:0100224" "BAMS:SUB" @@ -53369,7 +53369,6 @@ "RRID:CVCL_0131" "BTO:0000016" "CLO:0001560" - "MedDRA:10019016" "UMLS:C1834569" "GARD:3875" "ICD9:345.10" @@ -53380,6 +53379,7 @@ "MESH:C537563" "SCTID:703524005" "DOID:0050032" + "MedDRA:10019016" "HMDB:0061051" "PMID:28417999" "PMID:35347128" @@ -53416,12 +53416,12 @@ "PMID:29296746" "SNOMEDCT:113021009" "MeSH:D003935" - "NCIT:C27667" - "SCTID:734045002" "MEDGEN:233747" "DOID:10813" "UMLS:C1334921" "NCIT:C6074" + "NCIT:C27667" + "SCTID:734045002" "UMLS:C1997217" "DOID:0080829" "MEDGEN:744283" @@ -53445,13 +53445,13 @@ "UMLS:C0039482" "MESH:D013699" "UMLS:C1844749" + "PMID:29875488" "NCIT:C27907" "DOID:707" "MEDGEN:86953" "GARD:5877" "UMLS:C0079731" "MESH:D016393" - "PMID:29875488" "EPCC:06.02.92" "Fyler:1511" "UMLS:C0026269" @@ -53706,15 +53706,6 @@ "BTO:0003002" "UMLS:C0227837" "NCIT:C12309" - "Wikipedia:Axon_guidance" - "SCTID:763387005" - "GARD:182" - "Orphanet:1243" - "MEDGEN:411553" - "UMLS:C2745945" - "NORD:853" - "OMIM:153700" - "ICD10CM:H35.5" "EFO:1000582" "ICD10:C37" "GARD:20894" @@ -53727,6 +53718,15 @@ "ICD10:D15.0" "DOID:3280" "UMLS:C1266092" + "Wikipedia:Axon_guidance" + "SCTID:763387005" + "GARD:182" + "Orphanet:1243" + "MEDGEN:411553" + "UMLS:C2745945" + "NORD:853" + "OMIM:153700" + "ICD10CM:H35.5" "DOID:0111857" "GARD:16383" "UMLS:C5394104" @@ -53787,16 +53787,16 @@ "ICDO:8140/2" "MEDGEN:87203" "DOID:4943" - "Orphanet:96160" - "UMLS:C5190525" - "MEDGEN:1679764" - "GARD:19330" "GARD:10989" "MEDGEN:811623" "OMIM:615381" "UMLS:C3715192" "Orphanet:363649" "ZFA:0009256" + "Orphanet:96160" + "UMLS:C5190525" + "MEDGEN:1679764" + "GARD:19330" "MIAA:0000145" "BTO:0000630" "MeSH:D058506" @@ -53837,11 +53837,11 @@ "OMIM:615120" "GARD:20010" "Orphanet:156629" - "MEDGEN:48263" "Orphanet:79224" + "MEDGEN:48263" "DOID:653" - "ICD9:277.2" "MedDRA:10037546" + "ICD9:277.2" "MESH:D011686" "UMLS:C0034139" "GARD:18980" @@ -53994,6 +53994,7 @@ "FMA:32521" "UMLS:C0224234" "AAO:0010716" + "PMID:34814699" "ICD9:276.2" "MedDRA:10000486" "MONDO:0006022" @@ -54004,7 +54005,6 @@ "NCIt:C83504" "SCTID:51387008" "MEDGEN:1296" - "PMID:34814699" "GARD:18404" "OMIM:617593" "MEDGEN:1621256" @@ -54604,6 +54604,7 @@ "MESH:D007153" "UMLS:C0398686" "DOID:612" + "PMID:35347128" "MeSH:D002769" "MEDGEN:3039" "MedDRA:10008629" @@ -54618,7 +54619,6 @@ "DOID:10211" "MESH:D002769" "ICD9:574" - "PMID:35347128" "MedDRA:10047505" "SCTID:186803007" "NCIT:C34771" @@ -54738,11 +54738,11 @@ "NCIt:C25738" "MedDRA:10061216" "MeSH:D007238" + "PMID:27411092" "GARD:21075" "UMLS:C5438815" "Orphanet:280229" "MEDGEN:1753109" - "PMID:27411092" "GARD:21957" "PMID:29875488" "ZFA:0000096" @@ -54768,7 +54768,6 @@ "MEDGEN:338875" "MESH:C565010" "CALOHA:TS-0732" - "FMA:18245" "EMAPA:35660" "Wikipedia:Fallopian_tube" "EV:0100112" @@ -54780,6 +54779,7 @@ "SCTID:181463001" "EHDAA2:0000504" "UMLS:C0015560" + "FMA:18245" "MEDGEN:1750188" "OMIM:619044" "DOID:0112109" @@ -55613,6 +55613,7 @@ "Orphanet:99846" "MEDGEN:320384" "MESH:C563546" + "HMDB:0032740" "NCIT:C6542" "MEDGEN:272471" "DOID:6161" @@ -55621,7 +55622,6 @@ "UMLS:C0205650" "DOID:3172" "MEDGEN:59999" - "HMDB:0032740" "MEDGEN:52426" "ICD9:123.5" "MONDO:0005963" @@ -55687,7 +55687,6 @@ "FBbt:00017009" "SNOMEDCT:396180007" "NCIt:C67411" - "MeSH:D008017" "SCTID:410692006" "CSP:1114-9593" "SNOMEDCT:410692006" @@ -55704,6 +55703,7 @@ "MESH:D014606" "NCIt:C35109" "MEDGEN:22595" + "MeSH:D008017" "NCIT:C27825" "UMLS:C0334368" "MEDGEN:87225" @@ -55860,6 +55860,10 @@ "UMLS:C1849069" "MEDGEN:341373" "PMID:28240269" + "OMIM:619057" + "DOID:0112137" + "MEDGEN:1757992" + "UMLS:C5436703" "MEDGEN:393265" "SCTID:716456000" "MESH:C567184" @@ -55869,10 +55873,6 @@ "GARD:11974" "DOID:0060419" "Orphanet:65286" - "OMIM:619057" - "DOID:0112137" - "MEDGEN:1757992" - "UMLS:C5436703" "ICDO:8585/3" "MONDO:0006458" "ICDO:8585/1" @@ -57403,13 +57403,6 @@ "ICDO:9371/3" "EFO:1000174" "PMID:29875488" - "DOID:13582" - "MedDRA:10036445" - "MESH:D011191" - "MeSH:D011191" - "MEDGEN:10874" - "MONDO:0006919" - "UMLS:C0032827" "DOID:5142" "MEDGEN:274417" "NCIT:C40326" @@ -57420,6 +57413,13 @@ "SCTID:268232000" "MEDGEN:609099" "UMLS:C0431692" + "DOID:13582" + "MedDRA:10036445" + "MESH:D011191" + "MeSH:D011191" + "MEDGEN:10874" + "MONDO:0006919" + "UMLS:C0032827" "NCIt:C4016" "CSP:2019-1041" "MEDGEN:79002" @@ -57454,11 +57454,11 @@ "OMIM:612968" "ICD10:Q12.0" "OMIM:605387" - "PMID:24816252" "MESH:C563624" "OMIM:151620" "UMLS:C1835402" "MEDGEN:372036" + "PMID:24816252" "PMID:27060140" "MEDGEN:371361" "UMLS:C1832586" @@ -57628,6 +57628,9 @@ "MedDRA:10006475" "OMIM:612949" "ICD10:G31.8" + "CLO:0001582" + "BTO:0002806" + "RRID:CVCL_0132" "Beilstein:8471798" "NCIt:C28910" "DrugBank:DB00520" @@ -57640,9 +57643,6 @@ "Drug_Central:2977" "Patent:US5378804" "MeSH:C105417" - "CLO:0001582" - "BTO:0002806" - "RRID:CVCL_0132" "DOID:0050989" "Orphanet:37612" "MEDGEN:318554" @@ -57656,7 +57656,6 @@ "OMIM:616052" "ICD10:G71.0" "OMIM:617232" - "PMID:29875488" "CAS:124-38-9" "PMID:19259576" "PMID:8482095" @@ -57695,6 +57694,7 @@ "PMID:9730350" "Beilstein:1900390" "KEGG:D00004" + "PMID:29875488" "PMID:27184079" "UMLS:C1865038" "OMIM:601707" @@ -57754,8 +57754,8 @@ "MEDGEN:1842507" "NCIT:C40112" "DOID:3173" - "UMLS:C1517123" "MEDGEN:275874" + "UMLS:C1517123" "ChEMBL:646764" "Reaxys:5198936" "MONDO:0005964" @@ -58012,8 +58012,6 @@ "EFO:1000584" "NCIt:C43531" "MO:878" - "MONDO:0005255" - "Wikipedia:New_York_Heart_Association_Functional_Classification" "GARD:18297" "SCTID:720576001" "Orphanet:178506" @@ -58021,6 +58019,8 @@ "OMIM:618007" "OMIM:613658" "MEDGEN:1750003" + "MONDO:0005255" + "Wikipedia:New_York_Heart_Association_Functional_Classification" "SCTID:187732006" "DOID:10548" "MEDGEN:509280" @@ -58377,12 +58377,12 @@ "Orphanet:320396" "SNOMEDCT:35805009" "MeSH:D001236" - "ICD10:D69.1" - "NIFSTD:birnlex_934" - "NCIt:C52713" "OMIM:165200" "OMIM:500001" "ICD10:H47.2" + "ICD10:D69.1" + "NIFSTD:birnlex_934" + "NCIt:C52713" "OMIM:607539" "MEDGEN:375276" "UMLS:C1843758" @@ -59484,8 +59484,6 @@ "MEDGEN:61565" "NANDO:1200948" "MESH:D017825" - "ICD10:Q93.5" - "OMIM:613457" "NCIT:C4375" "NANDO:2200399" "SCTID:42681006" @@ -59500,6 +59498,8 @@ "UMLS:C1864903" "MONDO:0005803" "HP:0000825" + "ICD10:Q93.5" + "OMIM:613457" "SCTID:717332007" "OMIM:601238" "Orphanet:94122" @@ -59559,11 +59559,11 @@ "UMLS:C1707390" "MEDGEN:313028" "NCIT:C42589" - "UMLS:C4072908" "UMLS:C5680632" "MEDGEN:1843131" "Orphanet:155835" "GARD:19973" + "UMLS:C4072908" "MEDGEN:1684847" "UMLS:C5231479" "OMIM:618729" @@ -60087,13 +60087,13 @@ "UMLS:C1335418" "MEDGEN:235478" "PMID:24816252" + "MedDRA:10022523" "MEDGEN:462290" "Orphanet:294026" "DOID:0060458" "UMLS:C3150940" "GARD:15688" "OMIM:613681" - "MedDRA:10022523" "UMLS:C0079584" "MEDGEN:38217" "NCIT:C84778" @@ -60462,6 +60462,8 @@ "MEDGEN:1710207" "OMIM:618805" "UMLS:C5394125" + "OMIM:607091" + "ICD10:E77.8" "DOID:0111275" "OMIM:602081" "UMLS:C0750927" @@ -60479,8 +60481,6 @@ "MeSH:D016615" "Wikipedia:Aldosterone" "PMID:31169883" - "OMIM:607091" - "ICD10:E77.8" "PMID:22369679" "CiteXplore:22369679" "CiteXplore:22337620" @@ -60958,8 +60958,8 @@ "GARD:4085" "MEDGEN:388129" "BTO:0000231" - "PMID:28878392" "PMID:29875488" + "PMID:28878392" "PMID:35347128" "SNOMEDCT:430749000" "NCIt:C102259" @@ -61244,9 +61244,6 @@ "ICD10CM:D53.0" "Orphanet:98415" "MEDGEN:1842832" - "ICD10:Q93.5" - "MeSH:C538316" - "UMLS:C2931816" "PMID:29875488" "DOID:3187" "NCIT:C9377" @@ -61256,12 +61253,15 @@ "RRID:CVCL_3712" "CLO:0003772" "Orphanet:95161" - "PMID:33283231" + "ICD10:Q93.5" + "MeSH:C538316" + "UMLS:C2931816" "ICD10:K10" "NCIT:C66758" "UMLS:C0206738" "MEDGEN:60220" "SCTID:253038006" + "PMID:33283231" "MESH:D064419" "PMID:29875488" "PMID:24816252" @@ -61529,7 +61529,6 @@ "UMLS:C0028756" "SNOMEDCT:238136002" "MESH:D009767" - "PMID:24563282" "MEDGEN:5654" "NCIT:C82342" "icd11.foundation:2132180242" @@ -61544,6 +61543,7 @@ "Orphanet:399" "ICD9:333.4" "NANDO:1200012" + "PMID:24563282" "SNOMEDCT:1212005" "MESH:C538250" "MedDRA:10078425" @@ -61605,9 +61605,6 @@ "Orphanet:209196" "MEDGEN:1842345" "GARD:20437" - "UMLS:C0265260" - "OMIM:200700" - "ICD10:Q78.8" "FMA:9906" "EV:0100374" "ZFA:0000142" @@ -61618,6 +61615,9 @@ "BTO:0001832" "MAT:0000100" "EHDAA:3769" + "UMLS:C0265260" + "OMIM:200700" + "ICD10:Q78.8" "PMID:29875488" "Orphanet:79179" "GARD:18958" @@ -61907,8 +61907,6 @@ "OMIMPS:108600" "Orphanet:98353" "GARD:19449" - "ICD10:Q87.0" - "OMIM:608432" "ICD10:Q74.8" "OMIM:200500" "ORDO:931" @@ -61916,6 +61914,8 @@ "MeSH:C536014" "UMLS:C0265559" "Wikipedia:Acheiropodia" + "ICD10:Q87.0" + "OMIM:608432" "PMID:29875488" "MEDGEN:56207" "NCIT:C3495" @@ -61948,6 +61948,7 @@ "OMIM:617690" "OMIM:616185" "UMLS:C0685837" + "ZFS:0000029" "GARD:21647" "NCIT:C99236" "MEDGEN:98372" @@ -61960,7 +61961,6 @@ "NORD:1495" "MONDO:0018360" "NCIt:C99236" - "ZFS:0000029" "MedDRA:10021184" "MESH:D015212" "OMIM:618077" @@ -62367,6 +62367,15 @@ "OMIM:615545" "MEDGEN:816204" "https://catalog.coriell.org" + "Orphanet:98963" + "MESH:C535474" + "DOID:0060444" + "OMIM:607541" + "SCTID:397568004" + "UMLS:C1275685" + "MEDGEN:220900" + "ICD9:371.56" + "GARD:9278" "SNOMEDCT:387390002" "NCIt:C29974" "SNOMEDCT:70379000" @@ -62383,15 +62392,6 @@ "MetaCyc:NACL" "Reaxys:3534976" "PPDB:595" - "Orphanet:98963" - "MESH:C535474" - "DOID:0060444" - "OMIM:607541" - "SCTID:397568004" - "UMLS:C1275685" - "MEDGEN:220900" - "ICD9:371.56" - "GARD:9278" "PMID:35347128" "MeSH:D017285" "Wikipedia:Polymyositis" @@ -62647,8 +62647,8 @@ "UMLS:C4287868" "NCIT:C8384" "MEDGEN:925400" - "PMID:24816252" "PMID:35347128" + "PMID:24816252" "Orphanet:28" "GARD:12623" "MEDGEN:575193" @@ -62857,9 +62857,9 @@ "NCIT:C27093" "Medgen:CN239479" "PMID:29875488" - "PMID:29875488" "PMID:33634981" "RRID:CVCL_2206" + "PMID:29875488" "UMLS:C4747658" "MEDGEN:1662086" "UMLS:C4747517" @@ -62949,7 +62949,6 @@ "MESH:D002205" "SCTID:398640008" "MedDRA:10065917" - "PMID:29875488" "EV:0200009" "ncithesaurus:Beta_Cell" "Wikipedia:Pancreatic_b_cell" @@ -62960,6 +62959,7 @@ "BTO:0000783" "FMA:70586" "NCIt:C32199" + "PMID:29875488" "UMLS:C0031117" "SNOMEDCT_US:42658009" "SNOMEDCT_US:302226006" @@ -63839,6 +63839,7 @@ "GARD:20849" "Orphanet:262638" "MESH:C537941" + "ICD10:Q18.8" "MA:0000717" "MeSH:D004727" "MeSH:D004730" @@ -63850,7 +63851,6 @@ "GARD:12409" "MEDGEN:370234" "MESH:C567040" - "ICD10:Q18.8" "MeSH:D048168" "Gmelin:386661" "MetaCyc:CPD-7830" @@ -63879,11 +63879,11 @@ "MAT:0000101" "ZFA:0000142" "MA:0000223" - "Medgen:CN239354" "NCIt:C63663" "SNOMEDCT:16985007" "MedDRA:10068315" "MeSH:D005215" + "Medgen:CN239354" "PMID:31046077" "Wikipedia:Endomembrane_system" "ATCC:CRL-1821" @@ -64162,9 +64162,9 @@ "Orphanet:98631" "OMIM:270750" "ICD10:G11.4" - "ICD10:Q82.8" "PMID:34814699" "PMID:28240269" + "ICD10:Q82.8" "UMLS:C4274968" "GARD:17129" "Orphanet:217656" @@ -64258,6 +64258,10 @@ "SCTID:254711000" "DOID:4871" "MEDGEN:91071" + "OMIM:608812" + "UMLS:C1837315" + "MEDGEN:324734" + "FBbt:00005610" "ICD10:S75" "ICD10:T13" "ICD10:S80" @@ -64270,10 +64274,6 @@ "MedDRA:10054965" "ICD10:S84" "ICD10:S79" - "OMIM:608812" - "UMLS:C1837315" - "MEDGEN:324734" - "FBbt:00005610" "UMLS:C0524662" "MESH:D009293" "MONDO:0005530" @@ -64404,7 +64404,6 @@ "NCIT:C12833" "UMLS:C0149603" "ICD10:E85.0" - "NCIt:C6890" "MESH:C567466" "Orphanet:163937" "UMLS:C2677903" @@ -64412,6 +64411,7 @@ "MEDGEN:437070" "DOID:0060807" "OMIM:300749" + "NCIt:C6890" "MESH:D017074" "MedDRA:10021449" "NCIT:C26725" @@ -64463,10 +64463,10 @@ "UMLS:C5444223" "OMIM:619345" "PMID:24816252" + "FMA:45658" "NCIT:C61107" "galen:UpperUrinaryTract" "SCTID:181413006" - "FMA:45658" "NCIt:C944" "SNOMEDCT:87708000" "Wikipedia:Vitamin" @@ -64642,7 +64642,6 @@ "DOID:0080539" "GARD:4264" "UMLS:C1850055" - "PMID:35773277" "MEDGEN:266040" "ICD10:C96.4" "MESH:D054739" @@ -64656,6 +64655,7 @@ "EFO:0007329" "MONDO:0005813" "UMLS:C1260326" + "PMID:35773277" "PMID:22043864" "DOID:5534" "NCIT:C7732" @@ -64937,9 +64937,9 @@ "MAT:0000491" "MeSH:D001105" "NCIt:C61092" + "PMID:29875488" "UMLS:C4025857" "UMLS:C1857078" - "PMID:29875488" "Reaxys:1714841" "HMDB:HMDB0011172" "PMID:22770225" @@ -65044,7 +65044,6 @@ "GARD:17855" "OMIM:618564" "PMID:29875488" - "PMID:24816252" "MedDRA:10018209" "MEDGEN:38815" "UMLS:C0085207" @@ -65056,6 +65055,7 @@ "SCTID:11687002" "NCIt:C34942" "SNOMEDCT:11687002" + "PMID:24816252" "UM-BBD_pathwayID:tyr" "Wikipedia:Tyrosine" "GOC:mah" @@ -65504,8 +65504,8 @@ "ICD10:F84.3" "MedDRA:10061345" "ICD10:F84.4" - "UMLS:C4022964" "Orphanet:370959" + "UMLS:C4022964" "PMID:28240269" "EV:0100118" "VHOG:0001458" @@ -66083,9 +66083,9 @@ "PMID:35347128" "ICD10:Q87.8" "ZFA:0000094" + "PMID:29875488" "UMLS:C1855330" "SNOMEDCT:71803001" - "PMID:29875488" "MeSH:D053202" "MedDRA:10046494" "SNOMEDCT:87557004" @@ -66717,7 +66717,6 @@ "NCIt:C3414" "Orphanet:98720" "PMID:24816252" - "SNOMEDCT:26716007" "MedDRA:10008272" "DOID:9681" "MedDRA:10008271" @@ -66733,6 +66732,7 @@ "MONDO:0005698" "MedDRA:10008273" "MESH:D002581" + "SNOMEDCT:26716007" "PMID:22330257" "Beilstein:3077644" "DrugBank:DB01017" @@ -66979,7 +66979,6 @@ "GARD:19683" "MEDGEN:1672480" "PMID:26068415" - "SNOMEDCT:363888004" "MO:60" "MeSH:D008027" "NCIt:C64650" @@ -66992,6 +66991,7 @@ "DOID:5547" "MEDGEN:233371" "NCIT:C5381" + "SNOMEDCT:363888004" "NORD:913" "MEDGEN:1762238" "Orphanet:1466" @@ -67349,8 +67349,8 @@ "GAID:381" "MA:0000394" "VHOG:0001138" - "EMAPA:18986" "EFO:0000976" + "EMAPA:18986" "EV:0100117" "MIAA:0000128" "NCIT:C12407" @@ -67762,8 +67762,8 @@ "MEDGEN:1647585" "GARD:10898" "GO:0009314" - "PMID:30631343" "PMID:29875488" + "PMID:30631343" "NCIT:C6148" "UMLS:C1377909" "MEDGEN:237178" @@ -67990,13 +67990,13 @@ "UMLS:C1848490" "SNOMEDCT_US:18265008" "UMLS:C0015300" - "ICD10:Q56.1" "GARD:19871" "Orphanet:109009" "UMLS:C1840375" "FBbt:00001102" "MAT:0000339" "BTO:0002328" + "ICD10:Q56.1" "PMID:2846049" "PMID:29402945" "PMID:7247372" @@ -68090,6 +68090,8 @@ "KEGG:C00723" "PMID:31301295" "PMID:22843207" + "UMLS:C0796001" + "OMIM:246555" "MEDGEN:358" "DOID:2983" "MedDRA:10002847" @@ -68104,8 +68106,6 @@ "MESH:C566281" "GARD:685" "OMIM:106220" - "UMLS:C0796001" - "OMIM:246555" "Orphanet:93961" "DOID:0050844" "MEDGEN:409603" @@ -69207,6 +69207,12 @@ "MedGen:C1864399" "DI:00917" "MeSH:D018901" + "MedDRA:10071094" + "OMIM:120100" + "ICD10:L50.2" + "MedDRA:10064570" + "OMIM:616115" + "UMLS:C0343068" "MEDGEN:501111" "Orphanet:2297" "OMIM:610549" @@ -69214,12 +69220,6 @@ "NCIT:C131836" "MESH:C562710" "UMLS:C0342278" - "MedDRA:10071094" - "OMIM:120100" - "ICD10:L50.2" - "MedDRA:10064570" - "OMIM:616115" - "UMLS:C0343068" "SCTID:31712002" "NANDO:1200439" "ICD9:571.6" @@ -69257,8 +69257,8 @@ "NCIT:C32486" "MA:0001586" "GAID:939" - "SCTID:181238004" "BTO:0005115" + "SCTID:181238004" "FMA:59908" "MESH:D018987" "GARD:16794" @@ -69606,7 +69606,6 @@ "MEDGEN:6217" "Orphanet:511" "OMIMPS:248600" - "MetaCyc:CPD-7689" "EFO:0001670" "MA:0002877" "Wikipedia:Lymph_node#Lymph_nodes_of_the_thorax" @@ -69615,6 +69614,7 @@ "EMAPA:35555" "SCTID:181760002" "FMA:12774" + "MetaCyc:CPD-7689" "MEDGEN:815361" "OMIM:615285" "DOID:0112132" @@ -69656,6 +69656,7 @@ "NCIT:C128188" "DOID:0111778" "OMIM:400044" + "PMID:35347128" "ICDO:9424/3" "GARD:10631" "Orphanet:251607" @@ -69664,7 +69665,6 @@ "ONCOTREE:PXA" "DOID:4852" "NCIT:C4323" - "PMID:35347128" "Orphanet:98098" "MEDGEN:1842627" "UMLS:C5681515" @@ -70019,15 +70019,20 @@ "Orphanet:481986" "UMLS:C2931870" "PMID:35347128" - "MONDO:0005143" "GARD:10333" "MedDRA:10040655" "SCTID:127041004" "NCIT:C95539" "MedDRA:10055579" "Orphanet:251359" + "MONDO:0005143" "PMID:24816252" "PMID:29875488" + "OMIM:500010" + "OMIM:607459" + "MeSH:C537583" + "UMLS:C1843851" + "ICD10:G71.3" "GARD:15748" "UMLS:C3279695" "MEDGEN:481325" @@ -70052,11 +70057,6 @@ "NCIT:C12460" "TAO:0001353" "SCTID:362394008" - "OMIM:500010" - "OMIM:607459" - "MeSH:C537583" - "UMLS:C1843851" - "ICD10:G71.3" "RRID:CVCL_0104" "BTO:0004765" "SCTID:315345002" @@ -70098,8 +70098,8 @@ "PMID:17031012" "PMID:19389964" "PMID:33197771" - "PMID:21591326" "PDBeChem:VIV" + "PMID:21591326" "PMID:17310859" "PMID:11427352" "DrugBank:DB00163" @@ -70153,6 +70153,8 @@ "OMIM:551500" "ICD10:G31.8" "UMLS:C1328349" + "SCTID:272668006" + "NCIT:C61360" "NCIT:C3229" "MEDGEN:44353" "Orphanet:252025" @@ -70167,8 +70169,6 @@ "MONDO:0016743" "NCIt:C3229" "SNOMEDCT:409659004" - "SCTID:272668006" - "NCIT:C61360" "UMLS:C5543621" "OMIM:619406" "MEDGEN:1785163" @@ -70308,13 +70308,13 @@ "DOID:14268" "MONDO:0018646" "PMID:35050183" - "PMID:20495556" "MO:791" "SNOMEDCT:246508008" "SNOMEDCT:703421000" "PATO:0000146" "NCIt:C25206" "MeSH:D013696" + "PMID:20495556" "UMLS:C0240421" "PMID:29875488" "UMLS:C1857572" @@ -70723,12 +70723,12 @@ "CAS:499-04-7" "UMLS:C0948187" "SNOMEDCT_US:95434006" + "PMID:29875488" "MEDGEN:313370" "DOID:0080304" "UMLS:C1708776" "NCIT:C45512" "DOID:0080303" - "PMID:29875488" "UMLS:C1849537" "ICD9:386.10" "ICD9:386.1" @@ -70743,6 +70743,7 @@ "ICD10:G11.4" "PMID:29875488" "UMLS:C1836843" + "DOID:0080777" "EFO:1000336" "NCIT:C45540" "ICD9:162.9" @@ -70751,7 +70752,6 @@ "UMLS:C1708781" "MONDO:0006279" "SCTID:707460002" - "DOID:0080777" "SCTID:38993008" "OMIM:190320" "MESH:C536549" @@ -70887,8 +70887,8 @@ "UMLS:C0276226" "BTO:0001250" "MEDGEN:56315" - "UMLS:C0153627" "SCTID:127004000" + "UMLS:C0153627" "NCIT:C3563" "ICD9:239.89" "DOID:294" @@ -71025,9 +71025,9 @@ "SCTID:38907003" "MEDGEN:2995" "MeSH:D002644" - "MedDRA:10008505" "ICD9:052.9" "MESH:D002644" + "MedDRA:10008505" "NCIT:C97132" "ICD10:B01" "DOID:8659" @@ -71835,6 +71835,8 @@ "MEDGEN:233407" "NCIT:C7353" "Orphanet:98590" + "OMIM:604801" + "ICD10:G71.2" "NCIT:C113400" "ICD10CM:K76.7" "MEDGEN:9224" @@ -71843,21 +71845,10 @@ "MESH:D006530" "ICD9:572.4" "SCTID:51292008" - "OMIM:604801" - "ICD10:G71.2" "MEDGEN:1843485" "MedDRA:10015907" "MONDO:0005551" "UMLS:C0852875" - "AAO:0010580" - "XAO:0001001" - "Wikipedia:Cranial_neural_crest" - "TAO:0001194" - "EHDAA2:0004420" - "EMAPA:16091" - "ZFA:0001194" - "VHOG:0000063" - "EFO:0003645" "MEDGEN:375536" "GARD:28" "OMIM:302380" @@ -71868,6 +71859,15 @@ "Orphanet:1388" "NORD:901" "UMLS:C1844887" + "AAO:0010580" + "XAO:0001001" + "Wikipedia:Cranial_neural_crest" + "TAO:0001194" + "EHDAA2:0004420" + "EMAPA:16091" + "ZFA:0001194" + "VHOG:0000063" + "EFO:0003645" "NCIT:C6015" "DOID:4930" "MEDGEN:233746" @@ -73011,11 +73011,11 @@ "Wikipedia:Docosapentaenoic_acid" "PMID:17547694" "NCIt:C68347" + "PMID:23823483" "DOID:6903" "NCIT:C35690" "MEDGEN:1788822" "UMLS:C0730306" - "PMID:23823483" "ICD10:Q93.5" "SNOMEDCT:21327008" "UMLS:C4280642" @@ -73664,16 +73664,6 @@ "GO:0005623\n" "KUPO:0000002" "UMLS:C0854107" - "RRID:CVCL_R864" - "OMIM:617393" - "UMLS:C4479333" - "Orphanet:500545" - "MEDGEN:1377894" - "GARD:17930" - "Orphanet:424975" - "MEDGEN:1668494" - "UMLS:C4749400" - "GARD:21789" "OMIM:602535" "ICD10:Q87.3" "MeSH:C536026" @@ -73689,6 +73679,16 @@ "MEDGEN:57993" "MedDRA:10020041" "MONDO:0006559" + "RRID:CVCL_R864" + "OMIM:617393" + "UMLS:C4479333" + "Orphanet:500545" + "MEDGEN:1377894" + "GARD:17930" + "Orphanet:424975" + "MEDGEN:1668494" + "UMLS:C4749400" + "GARD:21789" "JAX:004435" "NANDO:1200317" "OMIM:274150" @@ -73737,8 +73737,8 @@ "OMIM:619091" "PMID:29293525" "PMID:29875488" - "PMID:29875488" "PMID:28240269" + "PMID:29875488" "Orphanet:294996" "OMIM:620029" "MEDGEN:1823986" @@ -73831,10 +73831,10 @@ "MONDO:0021183" "FMA:84643" "FMA:84645" + "PMID:29875488" "UMLS:C5543635" "OMIM:619426" "MEDGEN:1785087" - "PMID:29875488" "PMID:35995766" "PMID:33634981" "NCIT:C102570" @@ -74321,9 +74321,6 @@ "MedDRA:10038262" "MeSH:D005764" "NCIT:C26781" - "UMLS:C2751683" - "MeSH:C538119" - "ICD10:Q43.1" "GARD:369" "OMIM:303110" "MESH:C537793" @@ -74332,13 +74329,16 @@ "SCTID:717761005" "MEDGEN:763933" "NCIt:C753" - "SNOMEDCT:443157008" - "NCIt:C96414" - "UMLS:C2732618" + "UMLS:C2751683" + "MeSH:C538119" + "ICD10:Q43.1" "UMLS:C0020595" "SNOMEDCT_US:60086000" "UMLS:C1846226" "UMLS:C0857899" + "SNOMEDCT:443157008" + "NCIt:C96414" + "UMLS:C2732618" "Orphanet:183592" "UMLS:C5680544" "GARD:20306" @@ -74424,6 +74424,8 @@ "UMLS:C4693550" "MEDGEN:1633749" "OMIM:617904" + "GARD:20383" + "Orphanet:207021" "KEGG:D00512" "NCIt:C741" "CiteXplore:7602118" @@ -74452,8 +74454,6 @@ "MeSH:D010672" "PMID:9186244" "PMID:15744730" - "GARD:20383" - "Orphanet:207021" "PMID:33634981" "RRID:CVCL_3959" "BTO:0002216" @@ -74464,10 +74464,6 @@ "UMLS:C0267390" "SCTID:52506002" "ICD9:556.3" - "NCIt:C3747" - "DOID:4265" - "SNOMEDCT:86959002" - "MeSH:D018229" "MESH:C563794" "DOID:0110306" "GARD:12531" @@ -74476,6 +74472,10 @@ "Orphanet:55596" "SCTID:719990003" "MEDGEN:322993" + "NCIt:C3747" + "DOID:4265" + "SNOMEDCT:86959002" + "MeSH:D018229" "PMID:33937362" "DOID:2050" "UMLS:C0155804" @@ -74577,13 +74577,13 @@ "NORD:1624" "Wikipedia:Incongenita_pigmenti" "DOID:12305" - "NCIt:C17941" - "ICD10:Z58" "NCIT:C4807" "SCTID:189164002" "MEDGEN:154239" "DOID:6112" "UMLS:C0542564" + "NCIt:C17941" + "ICD10:Z58" "MEDGEN:45205" "SCTID:78097002" "UMLS:C0029089" @@ -74732,15 +74732,15 @@ "MEDGEN:97989" "OMIM:613912" "SCTID:234607008" + "MEDGEN:344606" + "MESH:C538386" + "OMIM:239711" + "UMLS:C1855903" "UMLS:C4509816" "SCTID:723301009" "NCIT:C133254" "MEDGEN:1383559" "DOID:0080521" - "MEDGEN:344606" - "MESH:C538386" - "OMIM:239711" - "UMLS:C1855903" "PMID:29875488" "DOID:0111772" "MEDGEN:483746" @@ -74868,7 +74868,6 @@ "ICD9:277.86" "DOID:906" "ICD9:277.89" - "PMID:24816252" "Reaxys:3903069" "CAS:7784-34-1" "NIST Chemistry WebBook:7784-34-1" @@ -74886,6 +74885,7 @@ "MEDGEN:310947" "UMLS:C1708771" "NCIT:C45636" + "PMID:24816252" "MEDGEN:331326" "UMLS:C1832615" "SCTID:715218009" @@ -74913,12 +74913,23 @@ "MeSH:D004831" "OMIM:618074" "OMIM:618075" - "UMLS:CN207246" - "Orphanet:98990" "EFO:0006388" "MONDO:0005597" "PMID:3739121" + "UMLS:CN207246" + "Orphanet:98990" "Wikipedia:Carbonic_anhydrase_II" + "NCIT:C4375" + "MEDGEN:293643" + "UMLS:C1578917" + "OMIM:147630" + "SCTID:274944000" + "MESH:C563258" + "MEDGEN:313444" + "UMLS:C1709053" + "DOID:4065" + "ICDO:8902/3" + "NCIT:C4259" "NCIt:C26849" "ICD9:567.8" "NCIT:C26849" @@ -74935,17 +74946,6 @@ "ICD10:K65" "UMLS:C0031154" "MEDGEN:14697" - "NCIT:C4375" - "MEDGEN:293643" - "UMLS:C1578917" - "OMIM:147630" - "SCTID:274944000" - "MESH:C563258" - "MEDGEN:313444" - "UMLS:C1709053" - "DOID:4065" - "ICDO:8902/3" - "NCIT:C4259" "UMLS:C4021822" "MAT:0000152" "FBbt:00005177" @@ -74985,12 +74985,6 @@ "MEDGEN:90228" "ICD10:E75.2" "OMIM:609136" - "UMLS:C1840452" - "OMIM:143200" - "MedDRA:10063383" - "ICD10:H35.5" - "UMLS:C0339540" - "MeSH:C536075" "SCTID:280656002" "EMAPA:37417" "MEDGEN:333019" @@ -74999,6 +74993,12 @@ "OMIM:600461" "Orphanet:1046" "GARD:2642" + "UMLS:C1840452" + "OMIM:143200" + "MedDRA:10063383" + "ICD10:H35.5" + "UMLS:C0339540" + "MeSH:C536075" "PMID:2419390" "HMDB:HMDB0011737" "KEGG:C05282" @@ -75237,11 +75237,11 @@ "Wikipedia:Carbuncle" "MedDRA:10007247" "DOID:2176" + "DOID:0080655" + "OMIMPS:612286" "OMIM:312870" "ICD10:Q87.3" "MeSH:C537340" - "DOID:0080655" - "OMIMPS:612286" "UMLS:C3553929" "NCIT:C155752" "OMIM:614859" @@ -75523,8 +75523,8 @@ "SCTID:181185000" "EV:0100357" "VHOG:0000312" - "EHDAA:5693" "EHDAA2:0001181" + "EHDAA:5693" "BTO:0002099" "CALOHA:TS-2233" "NCIT:C12274" @@ -75824,7 +75824,6 @@ "SNOMEDCT_US:48522003" "PMID:35347128" "RRID:CVCL_Z705" - "PMID:28240269" "MeSH:D011164" "SNOMEDCT:29094004" "SNOMEDCT:371628009" @@ -75832,6 +75831,7 @@ "DOID:13268" "ICD9:277.1" "PMID:29212900" + "PMID:28240269" "UMLS:C2112129" "UMLS:C4020865" "NCIt:C112934" @@ -76163,6 +76163,7 @@ "icd11.foundation:1787577133" "GARD:20976" "Orphanet:268868" + "ICD10:Q87.8" "MESH:C535847" "DOID:0090119" "Orphanet:1071" @@ -76172,7 +76173,6 @@ "OMIM:106260" "SCTID:55821006" "NORD:738" - "ICD10:Q87.8" "UMLS:C1868773" "MEDGEN:1806599" "DOID:0050850" @@ -76478,6 +76478,7 @@ "MeSH:D010483" "ICD10:E72.8" "PMID:35347128" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03064&Product=CC" "MESH:C567703" "MEDGEN:413031" "Orphanet:92050" @@ -76486,7 +76487,6 @@ "GARD:10630" "SCTID:715669000" "OMIM:613217" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03064&Product=CC" "Reaxys:1744991" "Beilstein:1744991" "PMID:24755254" @@ -76665,8 +76665,14 @@ "UMLS:C0347481" "DOID:0060123" "MeSH:D005127" - "MONDO:0005163" - "UMLS:C1855677" + "MeSH:D002607" + "UMLS:C0007959" + "MedDRA:10034699" + "OMIM:616155" + "MedDRA:10008414" + "OMIM:616233" + "OMIM:608895" + "ICD10:G60.0" "UMLS:C0024224" "MESH:D008204" "EFO:1000339" @@ -76677,14 +76683,8 @@ "MONDO:0006282" "MEDGEN:6154" "SCTID:403986008" - "MeSH:D002607" - "UMLS:C0007959" - "MedDRA:10034699" - "OMIM:616155" - "MedDRA:10008414" - "OMIM:616233" - "OMIM:608895" - "ICD10:G60.0" + "MONDO:0005163" + "UMLS:C1855677" "PMID:29875488" "Reactome:R-HSA-71825" "Reactome:R-HSA-3262512" @@ -76983,8 +76983,6 @@ "MESH:C565248" "MEDGEN:342897" "UMLS:C1853507" - "OMIM:185120" - "ICD10:Q87.1" "MONDO:0005435" "UMLS:C0341692" "ICD9:580.0" @@ -76992,6 +76990,8 @@ "NCIT:C35443" "SCTID:197579006" "DOID:13138" + "OMIM:185120" + "ICD10:Q87.1" "DOID:6293" "NCIT:C5451" "MEDGEN:272443" @@ -77389,8 +77389,8 @@ "CALOHA:TS-2344" "MESH:D012886" "SCTID:110530005" - "EHDAA2:0000325" "NCIT:C12789" + "EHDAA2:0000325" "GAID:82" "Wikipedia:Skull" "FMA:46565" @@ -77574,7 +77574,6 @@ "Reactome:R-HSA-548831" "RHEA:19181" "EC:1.3.8.9" - "PMID:24816252" "NCIT:C36410" "Orphanet:316244" "UMLS:C0795844" @@ -77582,6 +77581,7 @@ "MESH:C538301" "MEDGEN:208640" "GARD:21404" + "PMID:24816252" "PMID:31626034" "UMLS:C1850553" "OMIM:256120" @@ -77607,12 +77607,12 @@ "UMLS:C1848172" "OMIM:300071" "GARD:15251" + "OMIM:607250" + "ICD10:G60.2" "MeSH:D009153" "Wikipedia:Mutagen" "NCIt:C672" "PMID:29875488" - "OMIM:607250" - "ICD10:G60.2" "PMID:29532581" "NCIt:C71624" "UMLS:C0931849" @@ -77938,8 +77938,8 @@ "SCTID:34742003" "MEDGEN:9375" "PMID:29535761" - "UMLS:C1836195" "ZFA:0000212" + "UMLS:C1836195" "MEDGEN:394835" "UMLS:C2678482" "GARD:10300" @@ -78012,9 +78012,6 @@ "MEDGEN:1713823" "UMLS:C5394296" "GARD:16388" - "OMIM:256500" - "MedDRA:10062909" - "ICD10:Q80.3" "MEDGEN:7292" "SCTID:26726000" "MedDRA:10035718" @@ -78030,6 +78027,9 @@ "Orphanet:549" "icd11.foundation:424434722" "MedDRA:10061266" + "OMIM:256500" + "MedDRA:10062909" + "ICD10:Q80.3" "UMLS:C5190839" "Orphanet:646139" "MEDGEN:1683894" @@ -78096,8 +78096,8 @@ "GARD:15787" "SCTID:700463002" "NCIT:C119677" - "DOID:0060602" "MESH:C565768" + "DOID:0060602" "MEDGEN:482058" "NCIt:C119677" "NANDO:1200768" @@ -78657,6 +78657,8 @@ "MEDGEN:899839" "DOID:0112025" "UMLS:C4225416" + "Wikipedia:Sasang_typology" + "PMID:25888059" "NANDO:2100003" "NCIT:C3247" "Orphanet:52688" @@ -78679,8 +78681,6 @@ "GARD:7132" "MedDRA:10028532" "GARD:0007132" - "Wikipedia:Sasang_typology" - "PMID:25888059" "UMLS:C3203657" "MEDGEN:1388012" "SCTID:724809006" @@ -79240,6 +79240,8 @@ "PMID:10604729" "BTO:0005390" "CLO:0037189" + "KEGG COMPOUND:C06425" + "HMDB:0002212" "ICD10:K37" "MeSH:D001064" "ICD9:541" @@ -79255,8 +79257,6 @@ "MedDRA:10003014" "UMLS:C0003615" "PMID:35347128" - "KEGG COMPOUND:C06425" - "HMDB:0002212" "PMID:35347128" "VHOG:0000328" "BTO:0001703" @@ -79333,8 +79333,8 @@ "GAID:320" "EHDAA2:0001919" "SCTID:362139007" - "MESH:D005748" "Wikipedia:Fundus_(stomach)" + "MESH:D005748" "EHDAA:4844" "MA:0001612" "BTO:0000502" @@ -80338,8 +80338,6 @@ "MEDGEN:508043" "SCTID:238525001" "UMLS:C0031736" - "OMIM:164310" - "ICD10:G71.0" "GARD:4582" "NANDO:1200750" "NANDO:1200746" @@ -80352,6 +80350,8 @@ "OMIMPS:265120" "SNOMEDCT:75777003" "NCIt:C20464" + "OMIM:164310" + "ICD10:G71.0" "MONDO:0005554" "UMLS:C0009326" "MESH:D012216" @@ -80670,9 +80670,6 @@ "PBA:4001" "NCIT:C12447" "OMIM:615688" - "NCIt:C12594" - "BTO:0001780" - "FMA:62901" "DOID:4927" "MESH:D018285" "MEDGEN:61664" @@ -80687,6 +80684,9 @@ "Orphanet:99978" "MONDO:0003345" "UMLS:C0206702" + "NCIt:C12594" + "BTO:0001780" + "FMA:62901" "ICD10:Q10.3" "GARD:20804" "UMLS:C5679663" @@ -81389,10 +81389,10 @@ "MEDGEN:1813021" "OMIM:138770" "ICD10:Q87.8" + "PMID:29875488" "SNOMEDCT:39473003" "NCIt:C14378" "MeSH:D011425" - "PMID:29875488" "PMID:29875488" "MESH:D056828" "GARD:16935" @@ -81855,13 +81855,13 @@ "MEDGEN:234305" "PMID:30475886" "PMID:29875488" - "OMIM:601370" - "UMLS:C1832424" - "ICD10:Q04.2" "PMID:36168886" "PMID:28011148" "Orphanet:307995" "GARD:21298" + "OMIM:601370" + "UMLS:C1832424" + "ICD10:Q04.2" "NCIt:C139267" "MONDO:0006758" "MESH:D014384" @@ -82322,11 +82322,11 @@ "icd11.foundation:2087939516" "Orphanet:156212" "GARD:19995" + "PMID:29875488" "MEDGEN:234456" "NCIT:C6155" "DOID:4938" "UMLS:C1336873" - "PMID:29875488" "MAT:0000357" "BTO:0000039" "PO:0020123" @@ -82373,8 +82373,8 @@ "PMID:35995766" "DOID:0050855" "SNOMEDCT:197660000" - "HP:0030760" "MONDO:0000494" + "HP:0030760" "SCTID:197660000" "MEDGEN:508798" "MP:0003985" @@ -82677,10 +82677,10 @@ "SCTID:31541009" "Orphanet:797" "NCIT:C34995" - "PMID:25056547" "OMIM:602477" "MEDGEN:1794141" "UMLS:C5561931" + "PMID:25056547" "PMID:34814699" "MESH:D006957" "GARD:8593" @@ -82979,8 +82979,8 @@ "OMIM:235740" "ICD10:Q43.1" "SNOMEDCT:409969007" - "ZFA:0009188" "PMID:24816252" + "ZFA:0009188" "PMID:31413141" "Orphanet:435934" "OMIM:617395" @@ -84291,11 +84291,11 @@ "RRID:CVCL_9720" "BTO:0005736" "PMID:29266176" - "PMID:35383711" "UMLS:C0685394" "MEDGEN:672347" "Orphanet:295103" "SCTID:371189003" + "PMID:35383711" "SCTID:85866007" "GARD:6577" "ICD10:T56" @@ -84327,9 +84327,6 @@ "MEDGEN:234167" "DOID:5421" "UMLS:C1333125" - "MEDGEN:1798084" - "DOID:0080009" - "UMLS:C5566661" "UMLS:C0037199" "SCTID:36971009" "ICD9:461" @@ -84343,6 +84340,9 @@ "DOID:0050127" "ICD9:461.9" "MESH:D012852" + "MEDGEN:1798084" + "DOID:0080009" + "UMLS:C5566661" "PMID:30053915" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02885&Product=CC" "UMLS:C0007461" @@ -84508,9 +84508,6 @@ "DOID:0050637" "Orphanet:85448" "OMIM:105120" - "OMIM:619609" - "UMLS:C5562020" - "MEDGEN:1794230" "NCIt:C40157" "ICD9:621.34" "UMLS:C1516855" @@ -84518,6 +84515,9 @@ "MONDO:0006193" "NCIT:C40157" "SCTID:134031000119108" + "OMIM:619609" + "UMLS:C5562020" + "MEDGEN:1794230" "SCTID:23414001" "MEDGEN:82859" "NCIT:C27062" @@ -84575,8 +84575,8 @@ "NCIt:C26911" "MP:0003541" "MedDRA:10046950" - "DOID:2170" "MeSH:D014627" + "DOID:2170" "MeSH:D048230" "SNOMEDCT:89651003" "PMID:29875488" @@ -84924,6 +84924,17 @@ "SCTID:717337001" "MEDGEN:318965" "Orphanet:98606" + "UMLS:C0042580" + "MEDGEN:21852" + "MESH:D014718" + "HP:0000076" + "ICD9:593.7" + "DOID:9620" + "NANDO:2200179" + "MeSH:D014718" + "SCTID:197811007" + "MONDO:0006007" + "MedDRA:10047371" "MESH:D020190" "OMIM:254770" "MedDRA:10071082" @@ -84938,17 +84949,6 @@ "ICD9:345.10" "icd11.foundation:1014397110" "NCIT:C84796" - "UMLS:C0042580" - "MEDGEN:21852" - "MESH:D014718" - "HP:0000076" - "ICD9:593.7" - "DOID:9620" - "NANDO:2200179" - "MeSH:D014718" - "SCTID:197811007" - "MONDO:0006007" - "MedDRA:10047371" "Orphanet:363618" "GARD:21555" "UMLS:C4750858" @@ -85294,14 +85294,14 @@ "MEDGEN:9635" "MeSH:D007674" "DOID:557" - "MedDRA:10064569" - "UMLS:C0268390" - "ICD10:E85.0" - "OMIM:191900" "OMIM:608389" "OMIM:602588" "OMIM:120502" "ICD10:Q87.0" + "MedDRA:10064569" + "UMLS:C0268390" + "ICD10:E85.0" + "OMIM:191900" "MedDRA:10018201" "NCIT:C84588" "DOID:1455" @@ -86391,13 +86391,13 @@ "PMID:29875488" "OMIM:606071" "ICD10:G60.0" - "MO:471" - "NCIt:C54694" "OMIM:618418" "UMLS:C5193084" "Orphanet:631068" "MEDGEN:1682111" "DOID:0112341" + "MO:471" + "NCIt:C54694" "DOID:0111621" "OMIM:218340" "Orphanet:1777" @@ -86831,8 +86831,8 @@ "TAO:0001410" "BTO:0004687" "ZFA:0001410" - "galen:Orbit" "FMA:53074" + "galen:Orbit" "Wikipedia:Orbit_(anatomy)" "MESH:D009915" "NCIT:C12347" @@ -86935,7 +86935,6 @@ "NCIT:C4775" "MEDGEN:96924" "EFO:1000907" - "ICD10:Q87.8" "MESH:C536056" "GARD:4151" "UMLS:C1843330" @@ -86943,14 +86942,15 @@ "DOID:0110937" "Orphanet:2783" "MEDGEN:335932" - "UMLS:C0861861" - "DOID:5537" - "NCIT:C5777" - "MEDGEN:209017" + "ICD10:Q87.8" "MeSH:C536017" "UMLS:C0220685" "OMIM:200610" "ICD10:Q77.0" + "UMLS:C0861861" + "DOID:5537" + "NCIT:C5777" + "MEDGEN:209017" "PMID:25934476" "MO:676" "MEDGEN:411554" @@ -87455,7 +87455,6 @@ "RRID:CVCL_0179" "CLO:0002042" "BTO:0001932" - "PMID:34814699" "Orphanet:1942" "NANDO:1200590" "ICD9:345.10" @@ -87464,6 +87463,7 @@ "icd11.foundation:951920505" "UMLS:C0393702" "MEDGEN:98284" + "PMID:34814699" "UMLS:C4275100" "Orphanet:3004" "GARD:18784" @@ -87508,15 +87508,15 @@ "PMID:3599023" "PMID:16159627" "PMID:29875488" - "OMIM:604308" - "OMIM:154700" - "ICD10:Q87.4" "SNOMEDCT:23238000" "MeSH:D017074" "DOID:12177" "NCIt:C26725" "ICD9:279.06" "OMIM:607594" + "OMIM:604308" + "OMIM:154700" + "ICD10:Q87.4" "PMID:21343387" "KEGG COMPOUND:C02652" "Orphanet:295026" @@ -87527,13 +87527,13 @@ "PMID:34503513" "UMLS:C4023407" "Fyler:4874" + "PMID:24816252" "CLO:0009017" "RRID:CVCL_0032" "BTO:0002210" - "PMID:24816252" + "PMID:28240269" "UMLS:C3277849" "MEDGEN:479479" - "PMID:28240269" "Orphanet:98959" "OMIM:612867" "UMLS:C2748503" @@ -87721,6 +87721,10 @@ "UMLS:C0206713" "MESH:D018300" "NANDO:1200181" + "MEDGEN:234290" + "DOID:5140" + "UMLS:C1333745" + "NCIT:C5747" "GAID:950" "MA:0000137" "EFO:0001381" @@ -87731,10 +87735,6 @@ "NCIT:C12771" "CALOHA:TS-0780" "MESH:D010581" - "MEDGEN:234290" - "DOID:5140" - "UMLS:C1333745" - "NCIT:C5747" "OMIM:300706" "ICD10:Q87.8" "PMID:29875488" @@ -88356,8 +88356,8 @@ "Orphanet:1272" "SCTID:720955004" "UMLS:C0795941" - "SCTID:181948009" "FMA:23466" + "SCTID:181948009" "VSAO:0005013" "UMLS:C0041600" "GAID:188" @@ -88434,6 +88434,8 @@ "ICD10CM:H35.5" "OMIM:276902" "MEDGEN:1830415" + "OMIM:203750" + "ICD10:E71.1" "PMID:23823483" "SCTID:47523006" "MESH:D020241" @@ -88450,8 +88452,6 @@ "MedDRA:10047915" "UMLS:C0153064" "NCIT:C85227" - "OMIM:203750" - "ICD10:E71.1" "OMIM:618619" "PMID:28067912" "PMID:28240269" @@ -89265,8 +89265,8 @@ "MEDGEN:215295" "NCIt:C53652" "SCTID:394659003" - "NCIT:C53652" "MedDRA:10051592" + "NCIT:C53652" "Orphanet:98549" "GARD:19492" "MEDGEN:338376" @@ -89473,6 +89473,8 @@ "ICD10:Q99.8" "GARD:20421" "Orphanet:209024" + "OMIM:109500" + "ICD10:Q75.8" "MEDGEN:209234" "SCTID:237914002" "DOID:0090106" @@ -89482,8 +89484,6 @@ "MESH:C535325" "GARD:5682" "UMLS:C0878676" - "OMIM:109500" - "ICD10:Q75.8" "OMIM:251900" "MeSH:D017240" "OMIM:616209" @@ -89943,6 +89943,13 @@ "Orphanet:238670" "MEDGEN:113137" "OMIM:275120" + "MEDGEN:811490" + "SCTID:723826007" + "UMLS:C3714897" + "DOID:0110809" + "OMIM:615658" + "GARD:17712" + "Orphanet:431329" "UMLS:C0398788" "NANDO:2200708" "DOID:0090007" @@ -89955,13 +89962,6 @@ "GARD:2945" "FMA:69071" "BTO:0000800" - "MEDGEN:811490" - "SCTID:723826007" - "UMLS:C3714897" - "DOID:0110809" - "OMIM:615658" - "GARD:17712" - "Orphanet:431329" "PMID: 31636452" "MESH:C567206" "UMLS:C2675210" @@ -90122,7 +90122,6 @@ "UMLS:C1856095" "MeSH:C535327" "OMIM:236110" - "NCIt:C121821" "MA:0000775" "BTO:0004714" "Wikipedia:Palatine_tonsil" @@ -90137,6 +90136,7 @@ "FMA:9610" "UMLS:C0040421" "SCTID:265787001" + "NCIt:C121821" "ZFA:0000712" "MESH:D005611" "MeSH:D005611" @@ -90290,8 +90290,8 @@ "SCTID:269515006" "PMID:35347128" "ZFA:0000904" - "PMID:29875488" "ZFS:0000030" + "PMID:29875488" "NCIt:C61015" "PMID:35347128" "OMIM:615360" @@ -90700,7 +90700,6 @@ "OMIM:614435" "UMLS:C3280795" "MedDRA:10021076" - "OMIM:617308" "EHDAA:7009" "FMA:9704" "WBbt:0005777" @@ -90710,6 +90709,7 @@ "BTO:0001409" "XAO:0000144" "WBbt:0004540" + "OMIM:617308" "PMID:20325309" "PMID:28316592" "DrugBank:DB01051" @@ -90916,8 +90916,8 @@ "DOID:0090129" "MEDGEN:316820" "NORD:894" - "PMID:35347128" "PMID:35347128" + "PMID:35347128" "UMLS:C0520578" "SNOMEDCT_US:21779006" "OMIM:106400" @@ -91030,8 +91030,8 @@ "Orphanet:254892" "DrugBank:DB00197" "Drug_Central:2767" - "Patent:US4572912" "MetaCyc:CPD-11439" + "Patent:US4572912" "Beilstein:4338399" "SNOMEDCT:109085002" "NCIt:C1522" @@ -91261,6 +91261,7 @@ "DOID:9574" "UMLS:C0008297" "MESH:D002754" + "PMID:29875488" "MESH:C538173" "GARD:8605" "DOID:0080941" @@ -91268,7 +91269,6 @@ "UMLS:C2931758" "icd11.foundation:1078767412" "MEDGEN:419486" - "PMID:29875488" "OMIM:607475" "ICD10:H35.5" "SNOMEDCT:360470001" @@ -91318,6 +91318,7 @@ "SCTID:88230002" "MEDGEN:538042" "UMLS:C0263661" + "PMID:33634981" "MESH:D014552" "DOID:0080784" "NCIt:C50791" @@ -91329,7 +91330,6 @@ "SNOMEDCT:68566005" "MeSH:D014552" "MONDO:0100338" - "PMID:33634981" "UMLS:C0206081" "NCIt:C113215" "MedDRA:10065597" @@ -91504,9 +91504,6 @@ "UMLS:C0280135" "DOID:5936" "PMID:35347128" - "PMID:33634981" - "HMDB:HMDB0000975" - "KEGG COMPOUND:C01083" "PMID:19829295" "MEDGEN:347327" "MESH:C536383" @@ -91514,6 +91511,9 @@ "GARD:2216" "OMIM:227210" "UMLS:C1856896" + "PMID:33634981" + "HMDB:HMDB0000975" + "KEGG COMPOUND:C01083" "PMID:35347128" "GARD:17341" "SCTID:699297004" @@ -91900,6 +91900,7 @@ "Orphanet:280615" "MEDGEN:1683555" "UMLS:C5190689" + "PMID:29875488" "MEDGEN:1823962" "OMIM:619981" "UMLS:C5774189" @@ -91915,7 +91916,6 @@ "HMDB:HMDB0000118" "CAS:306-08-1" "PMID:24423636" - "PMID:29875488" "PMID:35347128" "Orphanet:449" "DOID:687" @@ -92459,7 +92459,6 @@ "UMLS:C5680029" "GARD:17626" "PMID:35347128" - "PMID:33634981" "MEDGEN:383079" "SCTID:711482008" "Orphanet:313838" @@ -92468,6 +92467,7 @@ "ICD9:348.89" "OMIMPS:612199" "MESH:C567401" + "PMID:33634981" "GARD:21431" "Orphanet:320346" "PMID:29875488" @@ -92557,6 +92557,7 @@ "ZFS:0000031" "PMID:29875488" "PMID:35347128" + "PMID:29875488" "DOID:4808" "UMLS:C0014378" "MEDGEN:8647" @@ -92567,7 +92568,6 @@ "MeSH:D004769" "UMLS:C4021817" "PMID:37253714" - "PMID:29875488" "https://en.wikipedia.org/wiki/Viral_load" "PMID:31260374" "MedDRA:10062178" @@ -92662,8 +92662,8 @@ "GARD:18652" "MEDGEN:713680" "PMID:30134952" - "PMID:29875488" "PMID:31530798" + "PMID:29875488" "PMID:35347128" "MEDGEN:337124" "Orphanet:85297" @@ -92864,8 +92864,8 @@ "ICD10CM:D02.1" "NCIT:C3639" "UMLS:C0154070" - "ICD9:231.1" "MEDGEN:57816" + "ICD9:231.1" "SCTID:92772005" "DOID:8802" "SNOMEDCT:80268001" @@ -93027,6 +93027,8 @@ "ICD10:D69.8" "UMLS:C0796149" "PMID:29875488" + "MEDGEN:66020" + "UMLS:C0240991" "DOID:3055" "MedDRA:10033975" "ICD9:002.3" @@ -93044,8 +93046,6 @@ "UMLS:C0030528" "MONDO:0018626" "ICD9:002.9" - "MEDGEN:66020" - "UMLS:C0240991" "MEDGEN:57598" "DOID:7736" "ICD9:362.15" @@ -93250,8 +93250,8 @@ "NCIT:C3242" "ICD10:C90.00" "Orphanet:29073" - "PMID:35347128" "GO:0004336" + "PMID:35347128" "MedDRA:10065551" "ICD10:F01.1" "OMIM:125310" @@ -93338,10 +93338,6 @@ "GARD:17261" "MEDGEN:453209" "PMID:29875488" - "UMLS:C2931373" - "OMIM:607214" - "MeSH:C536948" - "ICD10:Q87.8" "Orphanet:261120" "OMIM:613457" "SCTID:719047001" @@ -93349,6 +93345,10 @@ "GARD:17241" "UMLS:C3150707" "DOID:0060392" + "UMLS:C2931373" + "OMIM:607214" + "MeSH:C536948" + "ICD10:Q87.8" "DECIPHER:44" "UMLS:C2931817" "MESH:C538317" @@ -93883,11 +93883,11 @@ "ICD10:C92.3" "UMLS:C2930954" "ICD10:Q87.8" - "PMID:25387704" "SCTID:449156009" "UMLS:C3164417" "MEDGEN:756825" "NCIT:C9319" + "PMID:25387704" "ZFA:0000250" "PMID:35347128" "OMIM:614279" @@ -94254,6 +94254,9 @@ "SCTID:277569004" "ICDO:9768/1" "PMID:33634981" + "SNOMEDCT:258066000" + "MeSH:D016133" + "NCIt:C17003" "EV:0100151" "FMA:72979" "MA:0000014" @@ -94266,9 +94269,6 @@ "FBbt:00004856" "EMAPA:17524" "EHDAA:6520" - "SNOMEDCT:258066000" - "MeSH:D016133" - "NCIt:C17003" "NCIt:C53147" "MEDGEN:39310" "NCIT:C35142" @@ -94317,12 +94317,6 @@ "MeSH:D008591" "SNOMEDCT:414667000" "Orphanet:93220" - "ICD10:Q73.8" - "MeSH:C535687" - "MedDRA:10084326" - "OMIM:268300" - "UMLS:C0392475" - "OMIM:269000" "TAO:0002157" "FMA:58309" "MA:0001246" @@ -94334,6 +94328,12 @@ "MESH:D003886" "GAID:894" "UMLS:C0011665" + "ICD10:Q73.8" + "MeSH:C535687" + "MedDRA:10084326" + "OMIM:268300" + "UMLS:C0392475" + "OMIM:269000" "ZFA:0009337" "ICD10:Q87.8" "MeSH:C537279" @@ -94515,13 +94515,13 @@ "UMLS:C0699790" "Orphanet:102284" "PMID:29875488" - "PMID:31294817" "MeSH:D048089" "DOID:13274" "SNOMEDCT_US:128334002" "ICD10:K07" "UMLS:C0026633" "OMIM:620569" + "PMID:31294817" "GARD:12568" "OMIM:612953" "MEDGEN:414488" @@ -94756,12 +94756,12 @@ "MEDGEN:1840908" "PMID:35347128" "PMID:33634981" + "OMIM:602089" + "ICD10:D18.0" "PO:0004525" "MAT:0000365" "SNOMEDCT:9784002" "NCIt:C86754" - "OMIM:602089" - "ICD10:D18.0" "MEDGEN:767031" "OMIM:614929" "GARD:18065" @@ -94984,7 +94984,6 @@ "PMID:35347128" "Chemspider:24823001" "LIPID_MAPS_instance:LMGP01050003" - "MONDO:0005301" "NCIT:C3453" "MONDO:0019610" "SCTID:53132006" @@ -95006,6 +95005,7 @@ "SCTID:302824004" "icd11.foundation:375645550" "GARD:0007918" + "MONDO:0005301" "NANDO:1200671" "MESH:D011038" "GARD:4392" @@ -95168,12 +95168,12 @@ "UMLS:C5575335" "MEDGEN:1806238" "UMLS:C4024216" + "ICD10:N43" + "MeSH:D006848" "MEDGEN:1668571" "Orphanet:401935" "UMLS:C4750911" "GARD:21706" - "ICD10:N43" - "MeSH:D006848" "SCTID:254856004" "MONDO:0006477" "MEDGEN:83410" @@ -95199,23 +95199,16 @@ "DOID:13419" "SCTID:425671009" "PMID:28240269" - "MEDGEN:541400" - "UMLS:C0268669" - "DOID:0070317" "DOID:0070053" "MEDGEN:816736" "OMIM:615761" "GARD:17673" "UMLS:C3810406" "Orphanet:404440" + "MEDGEN:541400" + "UMLS:C0268669" + "DOID:0070317" "Orphanet:181425" - "SCTID:733473000" - "Orphanet:96078" - "MEDGEN:462058" - "OMIM:613458" - "DOID:0060431" - "UMLS:C3150708" - "GARD:10755" "CiteXplore:21976715" "PMID:21976715" "PMID:11170513" @@ -95250,6 +95243,13 @@ "PMID:20078085" "PMID:12140173" "CiteXplore:3507253" + "SCTID:733473000" + "Orphanet:96078" + "MEDGEN:462058" + "OMIM:613458" + "DOID:0060431" + "UMLS:C3150708" + "GARD:10755" "OMIM:600457" "Orphanet:3387" "SCTID:717963001" @@ -95501,8 +95501,8 @@ "DOID:14151" "NCIT:C5158" "PMID:29875488" - "PMID:35347128" "Wikipedia:Collagen_type_II" + "PMID:35347128" "PMID:37253714" "PMID:29875488" "PMID:12832487" @@ -95778,6 +95778,7 @@ "PMID:22308371" "Reaxys:90754" "HMDB:HMDB0039229" + "PMID:35347128" "GARD:6544" "SCTID:402355000" "icd11.foundation:83784921" @@ -95788,7 +95789,6 @@ "Orphanet:99920" "UMLS:C0856825" "MEDGEN:208987" - "PMID:35347128" "Orphanet:98555" "GARD:19493" "ICD10:E34.8" @@ -95867,6 +95867,7 @@ "DOID:2978" "MedDRA:10061023" "MEDGEN:2825" + "PMID:29875488" "DOID:0050336" "NCIT:C37977" "SCTID:4996001" @@ -95874,12 +95875,11 @@ "MEDGEN:39327" "UMLS:C0085682" "MESH:D017674" - "PMID:29875488" - "MEDGEN:76097" "UMLS:C0280328" "SCTID:707427000" "NCIT:C8188" "DOID:3752" + "MEDGEN:76097" "NCIt:C87304" "MedDRA:10062762" "SNOMEDCT:446841001" @@ -97380,7 +97380,6 @@ "DOID:7463" "PMID:32341457" "Wikipedia:Single_cell_sequencing" - "PMID:35995766" "AAO:0000686" "ZFA:0000170" "EFO:0003503" @@ -97394,6 +97393,7 @@ "UMLS:C1257958" "DOID:4194" "ICD9:271.8" + "PMID:35995766" "UMLS:C5190524" "Orphanet:96188" "GARD:19338" @@ -97690,15 +97690,15 @@ "MedDRA:10001174" "NCIT:C9385" "NCIt:C117160" - "UMLS:C1520099" - "MEDGEN:311490" - "NCIT:C40311" - "DOID:2064" "OMIM:616126" "DOID:0111934" "MEDGEN:863730" "UMLS:C4015293" "Orphanet:319563" + "UMLS:C1520099" + "MEDGEN:311490" + "NCIT:C40311" + "DOID:2064" "OMIM:162900" "UMLS:C0334082" "NCIT:C4088" @@ -97815,6 +97815,7 @@ "ICD10:Q82.1" "UMLS:C1848410" "MeSH:C536766" + "PMID:29875488" "SCTID:233604007" "UMLS:C0032285" "MedDRA:10035664" @@ -97834,7 +97835,6 @@ "SNOMEDCT:233604007" "MEDGEN:10813" "MESH:D011014" - "PMID:29875488" "MONDO:0017332" "Orphanet:289478" "MO:933" @@ -98198,11 +98198,11 @@ "PMID:35668104" "UMLS:C4022736" "ZFA:0000131" + "PMID:29875488" "MEDGEN:235500" "DOID:10290" "NCIT:C5533" "UMLS:C1335512" - "PMID:29875488" "PMID:23823483" "UMLS:C1565489" "UMLS:C0035078" @@ -98469,16 +98469,16 @@ "NANDO:2100235" "NANDO:2200876" "ICD9:759.89" + "Wikipedia:Ribulose_5-phosphate" "OMIM:603457" "ICD10:Q87.0" - "Wikipedia:Ribulose_5-phosphate" - "PMID:36006120" "PMID:23897579" "OMIM:613576" "GARD:17199" "Orphanet:247827" "UMLS:C3150809" "MEDGEN:462159" + "PMID:36006120" "PMID:19347970" "PMID:21930197" "Reaxys:85302" @@ -99256,11 +99256,11 @@ "UMLS:C0009766" "MONDO:0005642" "ZFA:0001076" + "PMID:2784066" "Orphanet:207119" "GARD:20403" "UMLS:C5680827" "MEDGEN:1842706" - "PMID:2784066" "OMIM:109200" "UMLS:C4049090" "MEDGEN:886756" @@ -99375,7 +99375,6 @@ "UMLS:C0007682" "UMLS:C4021765" "PMID:34565479" - "Wikipedia:Radial_nerve" "MA:0001171" "VHOG:0000896" "EMAPA:17278" @@ -99387,6 +99386,7 @@ "FMA:37069" "SCTID:181011002" "GAID:845" + "Wikipedia:Radial_nerve" "SCTID:49227001" "MEDGEN:1830326" "Orphanet:650" @@ -99802,8 +99802,8 @@ "UMLS:C1865572" "PMID:35347128" "PMID:29875488" + "PMID:29875488" "MedDRA:10081973" - "Orphanet:98558" "Gmelin:81842" "PMID:19846048" "Patent:US2535245" @@ -99831,7 +99831,7 @@ "PMID:22136129" "PMID:7767980" "NCIt:C44329" - "PMID:29875488" + "Orphanet:98558" "SNOMEDCT:162344009" "NCIt:C27644" "MedDRA:10011878" @@ -99906,11 +99906,11 @@ "OMIM:614616" "ICD10:P78.3" "MAT:0000518" + "PMID:24816252" "GARD:20426" "UMLS:C5680839" "MEDGEN:1842905" "Orphanet:209041" - "PMID:24816252" "SCTID:267395000" "GARD:20226" "Orphanet:181412" @@ -99920,9 +99920,6 @@ "MESH:D047808" "UMLS:C0302280" "ICD9:255.2" - "UMLS:C1841989" - "OMIM:137940" - "MeSH:C536825" " CLO:0050249" "RRID:CVCL_3155" "CLO:0008820" @@ -99938,6 +99935,9 @@ "XAO:0003030" "EMAPA:17412" "BTO:0001729" + "UMLS:C1841989" + "OMIM:137940" + "MeSH:C536825" "MeSH:D020203" "MEDGEN:60009" "NCIT:C27004" @@ -100203,9 +100203,9 @@ "NCIT:C12765" "EV:0100134" "FMA:13890" + "MAT:0000082" "EMAPA:32812" "CALOHA:TS-0745" - "MAT:0000082" "PMID:25461247" "GARD:9442" "MedDRA:10053250" @@ -100279,10 +100279,10 @@ "MEDGEN:398225" "MESH:D005234" "PMID:29875488" + "PMID:33634981" "NCIt:C26693" "MedDRA:10002329" "ICD10:I72" - "PMID:33634981" "UMLS:C4317339" "Orphanet:1941" "SCTID:230413002" @@ -100322,13 +100322,6 @@ "NCIt:C12477" "FMA:54537" "BTO:0000099" - "SCTID:92272009" - "ICD9:227.1" - "MEDGEN:57814" - "UMLS:C0154041" - "NCIT:C3630" - "ICD10CM:D35.1" - "DOID:60008" "ICD10:E51.1" "ICD9:265.0" "MeSH:D001602" @@ -100342,6 +100335,13 @@ "MONDO:0006676" "SNOMEDCT:36656008" "MESH:D001602" + "SCTID:92272009" + "ICD9:227.1" + "MEDGEN:57814" + "UMLS:C0154041" + "NCIT:C3630" + "ICD10CM:D35.1" + "DOID:60008" "PMID:28240269" "MEDGEN:82998" "UMLS:C0278863" @@ -100350,6 +100350,18 @@ "PMID:23328393" "OMIM:615546" "OMIM:601390" + "NCIT:C34834" + "MeSH:D009230" + "UMLS:C0027145" + "MESH:D009230" + "MedDRA:10028663" + "MONDO:0009718" + "SNOMEDCT:43153006" + "NCIt:C34834" + "SCTID:43153006" + "OMIM:255900" + "MEDGEN:6506" + "DOID:11634" "PMID:35347128" "MeSH:C057823" "KEGG COMPOUND:89365-50-4" @@ -100377,18 +100389,6 @@ "KEGG DRUG:D05792" "RRID:CVCL_A280" "PMID:3719517" - "NCIT:C34834" - "MeSH:D009230" - "UMLS:C0027145" - "MESH:D009230" - "MedDRA:10028663" - "MONDO:0009718" - "SNOMEDCT:43153006" - "NCIt:C34834" - "SCTID:43153006" - "OMIM:255900" - "MEDGEN:6506" - "DOID:11634" "GARD:17455" "UMLS:C4755312" "DOID:0111477" @@ -101135,17 +101135,17 @@ "UMLS:C0231686" "SNOMEDCT_US:394616008" "SNOMEDCT_US:22631008" - "PMID:29875488" "MeSH:C025999" "KEGG:C01226" "CAS:67204-66-4" "Beilstein:4354678" "NCIt:C30176" "KNApSAcK:C00000365" - "PMID:37253714" + "PMID:29875488" "EC:1.5.1.34" "MetaCyc:1.5.1.34-RXN" "Reactome:R-HSA-71130" + "PMID:37253714" "PMID:31190057" "MO:983" "UMLS:C0014852" @@ -101403,6 +101403,7 @@ "DOID:4320" "MESH:D031954" "MONDO:0006871" + "EFO:0003624" "VHOG:0001224" "PBA:294022030" "MA:0000819" @@ -101413,7 +101414,6 @@ "XAO:0000021" "BTO:0003654" "EMAPA:32679" - "EFO:0003624" "MEDGEN:341729" "GARD:3401" "MESH:C565619" @@ -101477,9 +101477,6 @@ "BTO:0002805" "GARD:20404" "Orphanet:207122" - "UMLS:C1859432" - "OMIM:210745" - "ICD10:Q87.8" "PMID:19911007" "PMID:20420449" "PMID:26338495" @@ -101520,6 +101517,9 @@ "PMID:24392160" "PMID:17616140" "PMID:26994919" + "UMLS:C1859432" + "OMIM:210745" + "ICD10:Q87.8" "UMLS:C1849937" "NCIt:C53656" "UMLS:C0009768" @@ -101739,9 +101739,9 @@ "OMIM:614253" "ICD10:K00.5" "PMID:29875488" - "PMID:29875488" "UMLS:C0221259" "SNOMEDCT_US:60332004" + "PMID:29875488" "WBls:0000024" "ICD10CM:G11.4" "UMLS:C3554449" @@ -101826,14 +101826,14 @@ "Patent:US2899436" "VSDB:2977" "CAS:68-88-2" + "MeSH:C535397" + "UMLS:C1832215" + "OMIM:601536" "PMID:29875488" "Orphanet:314572" "UMLS:C4749919" "MEDGEN:1654941" "GARD:21378" - "MeSH:C535397" - "UMLS:C1832215" - "OMIM:601536" "PMID:35383335" "OMIM:120200" "PMID:29875488" @@ -102631,15 +102631,6 @@ "MEDGEN:1759100" "UMLS:C5436652" "OMIM:619036" - "ICD9:379.29" - "ICD10:H43" - "NCIT:C45256" - "MONDO:0044137" - "UMLS:C0155365" - "ICD10:H45" - "MEDGEN:56361" - "NCIt:C45256" - "SCTID:76682005" "SNOMEDCT:300920004" "SCTID:371160000" "MONDO:0005269" @@ -102652,6 +102643,15 @@ "ICD9:447.9" "MeSH:D002340" "NCIt:C84476" + "ICD9:379.29" + "ICD10:H43" + "NCIT:C45256" + "MONDO:0044137" + "UMLS:C0155365" + "ICD10:H45" + "MEDGEN:56361" + "NCIt:C45256" + "SCTID:76682005" "PMID:34610981" "BM:Tel-C-Pu" "BAMS:CPu" @@ -102716,10 +102716,10 @@ "GARD:19517" "Orphanet:98623" "PMID:35347128" - "PMID:24816252" "RRID:CVCL_0620" "CLO:0007636" "BTO:0001569" + "PMID:24816252" "EFO:0000304" "MEDGEN:167809" "NCIT:C5214" @@ -102814,13 +102814,13 @@ "DOID:3687" "OMIM:540000" "PMID:28240269" - "BTO:0004471" - "RRID:CVCL_0405" "MedDRA:10068349" "UMLS:C2363744" "Orphanet:289644" "GARD:21147" "MEDGEN:797800" + "BTO:0004471" + "RRID:CVCL_0405" "MESH:D005330" "SCTID:13404009" "DOID:13576" @@ -103048,9 +103048,9 @@ "SNOMEDCT_US:64779008" "UMLS:C1458140" "SNOMEDCT_US:248250000" - "PMID:28240269" "NCIt:C116003" "MedDRA:10042182" + "PMID:28240269" "MONDO:0006721" "MEDGEN:101771" "UMLS:C0149870" @@ -103242,10 +103242,10 @@ "MESH:D016603" "ICD9:710.5" "PMID:29875488" - "UMLS:C0151786" - "SNOMEDCT_US:26544005" "OMIM:300778" "ICD10:H18.5" + "UMLS:C0151786" + "SNOMEDCT_US:26544005" "OMIM:203700" "MedDRA:10062943" "DOID:1442" @@ -104095,8 +104095,6 @@ "BTO:0005476" "PMID:10718481" "PMID:10604729" - "KEGG COMPOUND:C00544" - "HMDB:0000130" "ICD9:126.8" "ICD9:126.9" "UMLS:C0002831" @@ -104112,6 +104110,8 @@ "NCIT:C35805" "MEDGEN:1522" "Orphanet:78" + "KEGG COMPOUND:C00544" + "HMDB:0000130" "Orphanet:16" "OMIM:303700" "DOID:0050679" @@ -104510,11 +104510,11 @@ "OMIM:620014" "UMLS:C5774203" "DOID:0081030" - "PMID:24816252" "ICD10:Q87.8" "OMIM:311900" "MeSH:C536942" "UMLS:C1839463" + "PMID:24816252" "PMID:33634981" "MEDGEN:1842423" "UMLS:C5681010" @@ -104708,6 +104708,11 @@ "OMIM:158170" "UMLS:C1846434" "UMLS:C4023701" + "MEDGEN:1794251" + "DOID:0060964" + "OMIM:619656" + "UMLS:C5562041" + "PMID:26192317" "DOID:2871" "ONCOTREE:UCEC" "SCTID:254878006" @@ -104716,11 +104721,6 @@ "MONDO:0002447" "NCIT:C7558" "MEDGEN:96903" - "MEDGEN:1794251" - "DOID:0060964" - "OMIM:619656" - "UMLS:C5562041" - "PMID:26192317" "UMLS:C0085110" "SNOMEDCT_US:31323000" "PMID:29875488" @@ -104921,6 +104921,7 @@ "NCIT:C122798" "MEDGEN:588369" "UMLS:C0403397" + "ICD10:Q87.8" "Orphanet:101987" "GARD:19809" "UMLS:C3805116" @@ -104936,7 +104937,6 @@ "EMAPA:17669" "VHOG:0000406" "PMID:37253714" - "ICD10:Q87.8" "Orphanet:1178" "GARD:16559" "MESH:C564788" @@ -105108,13 +105108,13 @@ "SCTID:26484003" "UMLS:C0006015" "PMID:29875488" - "PMID:24816252" "UMLS:C1853116" "GARD:12234" "OMIM:610743" "MEDGEN:343973" "DOID:0111618" "Orphanet:88644" + "PMID:24816252" "MESH:C563037" "UMLS:C0748473" "OMIM:108100" @@ -105158,6 +105158,7 @@ "PMID:22268687" "PMID:35347128" "PMID:35668104" + "NCIt:C129690" "Orphanet:210548" "MEDGEN:381416" "MESH:C565342" @@ -105169,7 +105170,6 @@ "UMLS:C4750848" "MEDGEN:1655582" "Orphanet:370010" - "NCIt:C129690" "NCIt:C122523" "MedDRA:10058931" "MEDGEN:509492" @@ -105288,8 +105288,8 @@ "RRID:CVCL_C836" "BTO:0005717" "PMID:29875488" - "PMID:28240269" "PMID:35501403" + "PMID:28240269" "Orphanet:413" "DOID:1172" "ICD9:272.1" @@ -105732,8 +105732,8 @@ "ZEA:0015084" "PO:0020126" "OMIM:615419" - "OMIM:618672" "PMID:36006120" + "OMIM:618672" "NCIt:C21173" "SNOMEDCT:272515006" "DOID:0060289" @@ -105934,16 +105934,16 @@ "ICD9:277.6" "SCTID:297257004" "MO:628" - "UMLS:C5680716" - "Orphanet:254830" - "MEDGEN:1842923" - "icd11.foundation:1118834100" - "GARD:20762" "GARD:19674" "UMLS:C1303001" "Orphanet:99172" "SCTID:400954002" "MEDGEN:724511" + "UMLS:C5680716" + "Orphanet:254830" + "MEDGEN:1842923" + "icd11.foundation:1118834100" + "GARD:20762" "MESH:D014526" "MeSH:D014526" "MedDRA:10046492" @@ -106034,6 +106034,10 @@ "MEDGEN:1824022" "OMIM:620111" "UMLS:C5774249" + "MedDRA:10008378" + "MeSH:D002590" + "ICD10:B71" + "DOID:933" "BTO:0001197" "RRID:CVCL_2874" "CLO:0002333" @@ -106042,10 +106046,6 @@ "MEDGEN:307248" "DOID:6518" "PMID:31085678" - "MedDRA:10008378" - "MeSH:D002590" - "ICD10:B71" - "DOID:933" "ICD10CM:Q87.8" "OMIM:236680" "DOID:0050779" @@ -106255,11 +106255,6 @@ "OMIM:618829" "MEDGEN:1714169" "UMLS:C5394221" - "OMIM:602482" - "ICD10:Q13.8" - "OMIM:137600" - "MedDRA:10059198" - "OMIM:601631" "NANDO:2100180" "NORD:819" "OMIM:209300" @@ -106272,6 +106267,11 @@ "SCTID:111571009" "MESH:C538259" "Orphanet:1195" + "OMIM:602482" + "ICD10:Q13.8" + "OMIM:137600" + "MedDRA:10059198" + "OMIM:601631" "PMID:35347128" "MONDO:0003493" "EFO:1000579" @@ -106410,9 +106410,9 @@ "MEDGEN:208678" "ICD10:E23.0" "OMIM:300123" - "ICD10:Q93.5" "PMID:33283231" "UMLS:C0742028" + "ICD10:Q93.5" "GARD:16751" "Orphanet:85324" "MESH:C567474" @@ -106467,7 +106467,6 @@ "NCIT:C150646" "UMLS:C4721887" "DOID:0110155" - "PMID:37164013" "NCIT:C5673" "MEDGEN:224904" "SCTID:399432003" @@ -106476,6 +106475,7 @@ "MONDO:0005484" "DOID:0050860" "UMLS:C1302401" + "PMID:37164013" "EMAPA:18256" "BTO:0001978" "NCIT:C12375" @@ -106528,10 +106528,10 @@ "UMLS:C1336007" "DOID:5272" "PMID:23696881" - "PMID:35347128" "UMLS:C1867023" "OMIM:181180" "ICD10:Q87.8" + "PMID:35347128" "GARD:16664" "Orphanet:60033" "SCTID:233629001" @@ -106539,8 +106539,6 @@ "UMLS:C0339985" "MEDGEN:573462" "PMID:35347128" - "OMIM:202400" - "ICD10:D68.2" "OMIM:151380" "ICD10:C92.7" "ONCOTREE:AMOL" @@ -106606,6 +106604,8 @@ "SNOMEDCT_US:90176007" "ICD10:J03" "PMID:27618450" + "OMIM:202400" + "ICD10:D68.2" "PMID:35347128" "MCC:0000356" "MEDGEN:1633653" @@ -106834,13 +106834,13 @@ "FMA:55630" "UMLS:C1858695" "OMIM:604213" - "Orphanet:137608" - "UMLS:CN199243" - "SCTID:763867001" "PMID:35446786" "Orphanet:331244" "GARD:21514" "Orphanet:295067" + "Orphanet:137608" + "UMLS:CN199243" + "SCTID:763867001" "FBbt:00000111" "EFO:0000414" "MAT:0000173" @@ -107151,17 +107151,17 @@ "UMLS:C1842564" "MeSH:C536956" "OMIM:608096" + "PMID:29875488" "UMLS:C4280587" "UMLS:C4021770" - "PMID:29875488" "ICD10:E85.0" "OMIM:607115" "MedDRA:10064572" "OMIM:608156" "ICD10:Q93.5" - "PMID:29875488" "PMID:33634981" "OMIMPS:275200" + "PMID:29875488" "NCIt:C86544" "MeSH:D009166" "SNOMEDCT:58242002" @@ -107260,9 +107260,9 @@ "Orphanet:101988" "icd11.foundation:551037838" "GARD:19810" + "Wikipedia:Oligomycin" "OMIM:300299" "ICD10:D70" - "Wikipedia:Oligomycin" "PMID:28928442" "UMLS:C0003564" "SNOMEDCT_US:44564008" @@ -108753,8 +108753,8 @@ "NCIT:C8113" "PMID:29875488" "NCIt:C40036" - "PMID:28240269" "GARD:10923" + "PMID:28240269" "UMLS:C4225332" "MEDGEN:904191" "DOID:0060788" @@ -108846,12 +108846,12 @@ "PMID:35347128" "PMID:23823483" "OMIMPS:616263" - "OMIM:613647" - "ICD10:G11.4" "UMLS:C1333966" "MEDGEN:232274" "DOID:8022" "NCIT:C5832" + "OMIM:613647" + "ICD10:G11.4" "PMID:24816252" "UMLS:C0005396" "NCIT:C2898" @@ -109405,15 +109405,15 @@ "NANDO:2200017" "NANDO:2200018" "MedDRA:10067399" - "OMIM:149730" - "ICD10:Q87.8" - "UMLS:C0265269" "OMIM:616084" "Orphanet:369861" "UMLS:C4015172" "DOID:0080209" "GARD:17586" "MEDGEN:863609" + "OMIM:149730" + "ICD10:Q87.8" + "UMLS:C0265269" "PMID:29875488" "OMIM:301008" "MAT:0000340" @@ -109456,6 +109456,7 @@ "UMLS:C0268274" "MEDGEN:78656" "PMID:29875488" + "PMID:35264221" "UMLS:C0031110" "EMAPA:35681" "FMA:24041" @@ -109470,7 +109471,6 @@ "UMLS:C1739148" "NCIt:C97140" "MedDRA:10066665" - "PMID:35264221" "NANDO:1200579" "GARD:10865" "MEDGEN:96605" @@ -109658,13 +109658,13 @@ "OMIM:612900" "OMIM:603513" "MedDRA:10074398" - "ICD10:Q79.6" - "OMIM:614557" "MEDGEN:859271" "DOID:0070325" "GTR:AN0102113" "NCIT:C118822" "UMLS:C3899677" + "ICD10:Q79.6" + "OMIM:614557" "CAS:9002-60-2" "KEGG:C02017" "KEGG:D00146" @@ -109813,8 +109813,8 @@ "UMLS:C0162670" "GARD:20371" "icd11.foundation:601991549" - "Orphanet:206966" "NCIT:C101328" + "Orphanet:206966" "DOID:699" "MESH:D017240" "MedDRA:10027710" @@ -110418,10 +110418,10 @@ "UMLS:C1867403" "Orphanet:401825" "MeSH:D013273" - "PMID:35347128" "CLO:0007639" "RRID:CVCL_0623" "BTO:0001568" + "PMID:35347128" "Orphanet:353327" "MEDGEN:350678" "Orphanet:1154" @@ -111004,11 +111004,11 @@ "DOID:2150" "SNOMEDCT:18284006" "NCIt:C96623" + "PMID:29875488" "NCIT:C6531" "DOID:2706" "UMLS:C1334624" "MEDGEN:277340" - "PMID:29875488" "RRID:CVCL_C0HY" "PMID:23823483" "UMLS:C5543301" @@ -111091,10 +111091,10 @@ "ICD9:173.9" "SCTID:372130007" "ICD10CM:C43-C44" + "ICD10:Q87.0" "MeSH:D016269" "DOID:4376" "PMID:35347128" - "ICD10:Q87.0" "NORD:1323" "NCIT:C84798" "MESH:D007625" @@ -111133,6 +111133,10 @@ "OMIM:613675" "ICD10:Q85.0" "MeSH:D041881" + "BTO:0001205" + "CLO:0008893" + "RRID:CVCL_4006" + "PMID:35331647" "MedDRA:10021906" "NCIT:C78359" "MEDGEN:75798" @@ -111142,10 +111146,6 @@ "SCTID:39341005" "NCIt:C78359" "UMLS:C0277524" - "BTO:0001205" - "CLO:0008893" - "RRID:CVCL_4006" - "PMID:35331647" "UMLS:C5191004" "MEDGEN:1679887" "GARD:10948" @@ -111236,6 +111236,7 @@ "NCIT:C3357" "MEDGEN:48439" "UMLS:C0035358" + "PMID:26068415" "ICD9:729.3" "MEDGEN:45301" "DOID:1526" @@ -111250,7 +111251,6 @@ "UMLS:C0030326" "ICD9:729.30" "SCTID:22125009" - "PMID:26068415" "PMID:29875488" "EHDAA:394" "ZFA:0000010" @@ -111279,8 +111279,8 @@ "EHDAA:8203" "EHDAA:4993" "FMA:7406" - "EHDAA:4977" "EHDAA:4985" + "EHDAA:4977" "EHDAA:4955" "EHDAA:4963" "EHDAA:8175" @@ -111493,12 +111493,12 @@ "Orphanet:279919" "icd11.foundation:1722408748" "MEDGEN:1701702" - "OMIM:232240" - "ICD10:E74.0" - "OMIM:232220" "PMID:35995766" "ICD10:G11.1" "PMID:28240269" + "OMIM:232240" + "ICD10:E74.0" + "OMIM:232220" "MEDGEN:325276" "UMLS:C1837872" "OMIM:608556" @@ -112084,7 +112084,6 @@ "UMLS:C1868120" "GARD:16818" "PMID:35501403" - "ICD10:Q93.5" "SCTID:700423003" "MONDO:0006047" "EFO:1000044" @@ -112093,7 +112092,7 @@ "NCIT:C8294" "UMLS:C0281361" "DOID:4074" - "PMID:30367910" + "ICD10:Q93.5" "MEDGEN:91158" "SCTID:277507004" "UMLS:C0349620" @@ -112107,6 +112106,7 @@ "MEDGEN:909011" "NCIt:C60702" "SNOMEDCT:255226008" + "PMID:30367910" "SCTID:50143004" "DOID:2382" "MESH:D007647" @@ -112296,6 +112296,10 @@ "ICD9:246.8" "UMLS:C0271824" "SCTID:36985004" + "UMLS:C4751006" + "MEDGEN:1651057" + "Orphanet:324540" + "GARD:21443" "MONDO:0006583" "MESH:D009335" "MedDRA:10028847" @@ -112308,18 +112312,14 @@ "MEDGEN:45021" "GARD:13040" "NCIT:C34840" - "UMLS:C4751006" - "MEDGEN:1651057" - "Orphanet:324540" - "GARD:21443" "UMLS:C4706553" "Orphanet:1665" "GARD:18734" "SCTID:763717004" "MEDGEN:1636968" + "PMID:35347128" "SNOMEDCT:414481008" "NCIt:C41262" - "PMID:35347128" "RRID:CVCL_0418" "CLO:0007640" "BTO:0001908" @@ -112331,8 +112331,6 @@ "ICD10:H18.5" "VFB:FBbt_00005824" "FBbt:00005824" - "PMID:21177962" - "PMID:25262759" "MEDGEN:369590" "SCTID:720853005" "GARD:17045" @@ -112340,6 +112338,8 @@ "OMIM:611291" "MESH:C566970" "UMLS:C1969799" + "PMID:21177962" + "PMID:25262759" "UMLS:C3280677" "MEDGEN:482307" "OMIM:614395" @@ -112820,8 +112820,8 @@ "UMLS:C5190802" "GARD:17433" "NCIt:C117189" - "RRID:CVCL_0526" "MCC:0000426" + "RRID:CVCL_0526" "CLO:0009043" "BTO:0002131" "CLO:0004291" @@ -112932,11 +112932,11 @@ "SCTID:247604006" "UMLS:C0227578" "FMA:16011" + "PMID:29875488" "MEDGEN:412576" "UMLS:C2748542" "MONDO:0005449" "ICD10:I45" - "PMID:29875488" "OMIM:618885" "UMLS:C5394387" "MEDGEN:1709627" @@ -113050,6 +113050,10 @@ " CLO:0051387" "RRID:CVCL_0194" "PMID:35148957" + "UMLS:C4749580" + "MEDGEN:1659846" + "GARD:21083" + "Orphanet:280384" "MedDRA:10012432" "UMLS:C0234894" "NCIt:C35277" @@ -113060,10 +113064,6 @@ "MONDO:0006521" "MedDRA:10000520" "SNOMEDCT:402644006" - "UMLS:C4749580" - "MEDGEN:1659846" - "GARD:21083" - "Orphanet:280384" "MEDGEN:710723" "DOID:12168" "UMLS:C1288279" @@ -113197,6 +113197,14 @@ "MEDGEN:334618" "PMID:34503513" "PMID:24816252" + "DOID:0081441" + "Orphanet:3051" + "UMLS:C1303073" + "MEDGEN:220983" + "GARD:270" + "MESH:C536116" + "SCTID:401046009" + "OMIM:601358" "Orphanet:83" "NANDO:1200669" "SCTID:62964007" @@ -113207,14 +113215,6 @@ "GARD:5826" "NORD:792" "DOID:0081289" - "DOID:0081441" - "Orphanet:3051" - "UMLS:C1303073" - "MEDGEN:220983" - "GARD:270" - "MESH:C536116" - "SCTID:401046009" - "OMIM:601358" "SNOMEDCT:197352008" "MONDO:0005359" "MESH:D056486" @@ -113224,7 +113224,6 @@ "MeSH:D056486" "UMLS:C0860207" "HMDB:0059784" - "PMID:25910207" "SCTID:277857004" "SCTID:277855007" "MA:0002650" @@ -113240,6 +113239,7 @@ "NCIT:C3513" "Orphanet:70482" "SCTID:372138000" + "PMID:25910207" "OMIM:614815" "MEDGEN:766672" "UMLS:C3553758" @@ -113408,8 +113408,8 @@ "GARD:21774" "NCIT:C7469" "DOID:7177" - "MEDGEN:233979" "icd11.foundation:585238371" + "MEDGEN:233979" "PMID:27530334" "OMIM:181800" "MEDGEN:438003" @@ -113717,8 +113717,8 @@ "MA:0000439" "EMAPA:37739" "Wikipedia:Segmental_bronchus" - "UMLS:C0444439" "VHOG:0001446" + "UMLS:C0444439" "FMA:7407" "EHDAA:7064" "EHDAA:7043" @@ -113845,17 +113845,11 @@ "PMID:29875488" "ZFA:0000648" "PMID:35050183" - "MGI:2160001" - "TGEMO:00042" "SNOMEDCT_US:42341009" "UMLS:C0001816" + "MGI:2160001" + "TGEMO:00042" "PMID:33634981" - "UMLS:C4015184" - "MEDGEN:863621" - "Orphanet:445110" - "OMIM:616094" - "GARD:17769" - "DOID:0112381" "NCIT:C122789" "DOID:0050759" "OMIM:602668" @@ -113867,10 +113861,16 @@ "GARD:9728" "Orphanet:606" "MEDGEN:419137" + "UMLS:C4015184" + "MEDGEN:863621" + "Orphanet:445110" + "OMIM:616094" + "GARD:17769" + "DOID:0112381" "PMID:33634981" "SCTID:84209002" - "ICD10CM:F44.0" "UMLS:C0236795" + "ICD10CM:F44.0" "MEDGEN:66743" "ICD9:300.12" "DOID:11037" @@ -113933,10 +113933,6 @@ "UMLS:C1838578" "PMID:29875488" "PMID:35995766" - "GARD:20965" - "UMLS:C5680741" - "Orphanet:268810" - "MEDGEN:1806905" "MESH:D007897" "ICD10CM:B55.2" "MEDGEN:233065" @@ -113948,6 +113944,10 @@ "NCIT:C34769" "UMLS:C1328252" "DOID:9155" + "GARD:20965" + "UMLS:C5680741" + "Orphanet:268810" + "MEDGEN:1806905" "Wikipedia:Artery#Systemic_arteries" "FMA:66464" "EMAPA:37126" @@ -114134,12 +114134,12 @@ "Orphanet:2635" "MESH:C537356" "UMLS:C0265281" - "EFO:1000266" "DOID:7133" "NCIT:C6763" "MEDGEN:232229" "UMLS:C1333759" "MONDO:0006219" + "EFO:1000266" "ZFA:0000841" "RRID:CVCL_GX99" "PMID: 11479214" @@ -114296,8 +114296,8 @@ "MEDGEN:1632060" "icd11.foundation:1325415519" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM25256&Product=CC" - "ICD10:N46" "PMID:28240269" + "ICD10:N46" "PMID:33634981" "FMA:75639" "EMAPA:17593" @@ -114421,6 +114421,8 @@ "SCTID:721764008" "UMLS:C4303135" "MEDGEN:928804" + "MeSH:D018186" + "DOID:1275" "PMID:31296986" "Drug_Central:2825" "DrugBank:DB00541" @@ -114445,8 +114447,6 @@ "NCIt:C933" "PMID:30277559" "PMID:18520608" - "MeSH:D018186" - "DOID:1275" "Orphanet:505227" "GARD:17941" "DOID:0111993" @@ -114541,8 +114541,8 @@ "UMLS:C0339124" "NCIT:C4360" "MEDGEN:83280" - "PMID:36168886" "PMID:35347128" + "PMID:36168886" "PMID:25493955" "OMIM:618050" "UMLS:C4748003" @@ -114650,11 +114650,11 @@ "MEDGEN:1708513" "UMLS:C5394391" "OMIM:618886" + "NCIt:C147356" "OMIM:180750" "UMLS:C0175699" "OMIM:101400" "ICD10:Q87.0" - "NCIt:C147356" "NCIt:C71988" "SNOMEDCT:28140004" "PMID:31375628" @@ -114834,8 +114834,8 @@ "GARD:116" "Orphanet:79279" "DOID:0112318" - "PMID:28240269" "PMID:29875488" + "PMID:28240269" "UMLS:C0342337" "GARD:3009" "Orphanet:2298" @@ -114893,10 +114893,10 @@ "MESH:D020425" "OMIM:612109" "ICD10:Q87.8" + "UMLS:C4023721" "UMLS:C2677897" "OMIM:300750" "ICD10:G11.4" - "UMLS:C4023721" "PMID:30678657" "MEDGEN:1787923" "OMIM:619320" @@ -114929,8 +114929,8 @@ "TAO:0000279" "VHOG:0000559" "XAO:0000057" - "AAO:0011086" "EMAPA:16752" + "AAO:0011086" "EMAPA:16189" "EFO:0001982" "Orphanet:251009" @@ -114940,8 +114940,8 @@ "GARD:18693" "SCTID:716774008" "Orphanet:493" - "MEDGEN:477590" "UMLS:C3275959" + "MEDGEN:477590" "PMID:24816252" "SCTID:26135000" "MEDGEN:509177" @@ -115732,8 +115732,8 @@ "MA:0000122" "SCTID:362201006" "EMAPA:17507" - "NCIT:C12269" "VHOG:0000448" + "NCIT:C12269" "UMLS:C0227579" "EHDAA2:0001374" "Wikipedia:Head_of_pancreas" @@ -115855,6 +115855,8 @@ "ICD10:M62" "PMID:25353621" "PMID:35347128" + "OMIM:609541" + "ICD10:G11.4" "PMID:29875488" "PMID:29875488" "MeSH:D020945" @@ -115863,8 +115865,6 @@ "GARD:22575" "MEDGEN:934640" "OMIM:617188" - "OMIM:609541" - "ICD10:G11.4" "GARD:18017" "MEDGEN:1754121" "Orphanet:597733" @@ -115958,12 +115958,12 @@ "MESH:D007580" "SCTID:126834003" "OMIM:193235" + "PMID:29875488" "OMIM:613243" "DOID:0110319" "MESH:C567686" "UMLS:C2750472" "MEDGEN:442487" - "PMID:29875488" "ZFA:0001385" "PMID:33067605" "UMLS:C0025988" @@ -116315,8 +116315,8 @@ "NCIt:C377" "KEGG:D02132" "MeSH:D002981" - "Wikipedia:Clindamycin" "SNOMEDCT:372786004" + "Wikipedia:Clindamycin" "PMID:18695329" "CAS:18323-44-9" "SNOMEDCT:58883005" @@ -116425,13 +116425,13 @@ "MEDGEN:277495" "MONDO:0006049" "SCTID:707411007" - "PMID:36168886" "UMLS:C4552294" "DOID:0080939" "Orphanet:528623" "MEDGEN:1812520" "OMIM:106100" "GARD:22194" + "PMID:36168886" "DOID:1703" "MEDGEN:91159" "SCTID:277550009" @@ -116828,11 +116828,11 @@ "MEDGEN:120511" "NANDO:2200957" "GTR:AN0102079" + "PMID:29875488" "OMIM:618718" "UMLS:C5438861" "MEDGEN:1727346" "Orphanet:295154" - "PMID:29875488" "PMID:29875488" "PMID:28240269" "PMID:23828888" @@ -117007,8 +117007,8 @@ "OMIM:236000" "UMLS:C0019829" "GARD:16529" - "PMID:10594010" "RRID:CVCL_XF44" + "PMID:10594010" "MONDO:0006833" "SNOMEDCT:75667007" "DOID:13196" @@ -117358,6 +117358,10 @@ "OMIM:612318" "UMLS:C0549150" "PMID:29875488" + "OMIM:615767" + "OMIM:613148" + "OMIM:612567" + "ICD10:K52.8" "ICD9:040.1" "MONDO:0005945" "MedDRA:10039102" @@ -117367,10 +117371,6 @@ "SCTID:72409005" "DOID:11336" "MESH:D012226" - "OMIM:615767" - "OMIM:613148" - "OMIM:612567" - "ICD10:K52.8" "SNOMEDCT:20016009" "NCIt:C3228" "MedDRA:10027182" @@ -117402,8 +117402,8 @@ "NCIT:C12338" "EHDAA:9332" "MESH:D014497" - "GAZ:00002747" "PMID:28240269" + "GAZ:00002747" "DOID:9835" "NCIt:C87145" "MeSH:D012030" @@ -117568,13 +117568,13 @@ "NCIT:C5126" "MEDGEN:233659" "DOID:3843" + "PMID:34503513" "FBbt:00001056" "PMID:24954085" - "PMID:34503513" "PMID:21963238" "PMID:35347128" - "EHDAA:8199" "EHDAA:8171" + "EHDAA:8199" "Wikipedia:Bronchiole" "MESH:D055745" "SCTID:278982001" @@ -117705,7 +117705,6 @@ "MEDGEN:1809253" "UMLS:C5676931" "OMIM:619775" - "UMLS:C0005684" "ICD9:188.9" "ICD9:188.8" "DOID:11054" @@ -117715,6 +117714,7 @@ "OMIM:109800" "SCTID:399326009" "ICD9:188" + "UMLS:C0005684" "MONDO:0007745" "MeSH:D005878" "ICD10CM:E80.4" @@ -117867,7 +117867,6 @@ "NCIt:C16342" "NCIT:C3360" "MESH:D012303" - "PMID:29875488" "UMLS:C1863225" "GARD:548" "OMIM:102800" @@ -117881,6 +117880,7 @@ "DOID:0070123" "Orphanet:90674" "GARD:10129" + "PMID:29875488" "NCIT:C36263" "MEDGEN:422475" "UMLS:C2939419" @@ -118219,8 +118219,8 @@ "HAO:0000316" "CALOHA:TS-2216" "Wikipedia:Face" - "GAID:64" "galen:Face" + "GAID:64" "BTO:0003369" "FMA:24728" "NCIt:C25734" @@ -118479,8 +118479,8 @@ "EMAPA:18427" "NCIT:C12396" "EFO:0000237" - "FMA:15632" "GAID:447" + "FMA:15632" "ONCOTREE:MOV" "UMLS:C1518233" "NCIT:C40033" @@ -118809,8 +118809,6 @@ "UMLS:C1838161" "MESH:C563942" "OMIM:600384" - "NCIt:C35021" - "MedDRA:10049128" "DOID:7061" "SCTID:277571004" "MONDO:0004947" @@ -118819,6 +118817,8 @@ "DOID:0080630" "UMLS:C1292769" "NCIT:C8936" + "NCIt:C35021" + "MedDRA:10049128" "EFO:0004251" "EFO:0002428" "SCTID:425333006" @@ -119240,13 +119240,13 @@ "MeSH:C538346" "OMIM:137200" "ICD10:G60.0" - "SCTID:713609000" "MONDO:0006256" "NCIT:C9245" "UMLS:C0853879" "ONCOTREE:BRCA" "EFO:1000307" "MEDGEN:163435" + "SCTID:713609000" "UMLS:C0037315" "SNOMEDCT_US:73430006" "OMIM:212140" @@ -119416,19 +119416,15 @@ "Orphanet:183460" "UMLS:C5680577" "GARD:20268" - "ICD10:H47.2" "PMID:29875488" "SCTID:726706008" "MEDGEN:1387521" "UMLS:C4512053" "GARD:19306" "Orphanet:96072" + "ICD10:H47.2" "UMLS:C0431691" "ICD10:Q60.3" - "UMLS:C0175703" - "OMIM:274000" - "MedDRA:10071719" - "ICD10:Q87.2" "icd11.foundation:578519098" "GARD:7004" "ONCOTREE:THME" @@ -119441,6 +119437,10 @@ "HP:0002865" "Orphanet:1332" "DOID:3973" + "UMLS:C0175703" + "OMIM:274000" + "MedDRA:10071719" + "ICD10:Q87.2" "PMID:29875488" "PMID:35995766" "UMLS:C5562003" @@ -119565,8 +119565,8 @@ "MA:0002565" "GAID:900" "FMA:59160" - "EMAPA:35754" "SCTID:361697005" + "EMAPA:35754" "MedDRA:10060360" "OMIM:300755" "UMLS:C0221026" @@ -119740,13 +119740,13 @@ "ICD10:Q87.0" "UMLS:C1836450" "UMLS:C1857953" - "OMIM:618270" - "OMIM:610805" "SNOMEDCT:7093002" "ICD10:N23" "NCIt:C78593" "MeSH:D056844" "MedDRA:10038419" + "OMIM:618270" + "OMIM:610805" "ICD10:C03" "MEDGEN:57549" "MONDO:0005507" @@ -120121,14 +120121,14 @@ "NCIT:C176896" "GARD:12781" "UMLS:C3279775" + "UMLS:C2931371" + "MeSH:C536938" "OMIM:147920" "MedDRA:10063935" "ICD10:Q87.0" "UMLS:C0796004" "MeSH:C537705" "OMIM:300867" - "UMLS:C2931371" - "MeSH:C536938" "ICD10:M89" "NANDO:2100291" "MEDGEN:14182" @@ -120536,7 +120536,6 @@ "GARD:17174" "Orphanet:238505" "NANDO:2200735" - "PMID:35347128" "NANDO:1200235" "NANDO:2201375" "DOID:4644" @@ -120552,6 +120551,7 @@ "ICD10CM:Q81.0" "NANDO:2201341" "UMLS:C0079298" + "PMID:35347128" "MESH:D007107" "UMLS:C0020962" "NCIT:C12735" @@ -120847,9 +120847,9 @@ "OMIM:176920" "MeSH:D016715" "MedDRA:10074067" + "PMID:35347128" "PMID:26241739" "Orphanet:294049" - "PMID:35347128" "OMIM:609945" "MESH:C537100" "UMLS:C1864965" @@ -121080,8 +121080,8 @@ "OMIM:149000" "MedDRA:10051452" "ICD10:Q87.2" - "NCIT:C9018" "PMID:29875488" + "NCIT:C9018" "BTO:0003913" "CLO:0007730" "RRID:CVCL_0429" @@ -121414,16 +121414,16 @@ "UMLS:C1849554" "SCTID:45142002" "GARD:9900" - "ICDO:8450/0" - "MEDGEN:41386" - "MESH:D018292" - "UMLS:C0010636" - "NCIT:C2974" "UMLS:C4280613" "SNOMEDCT_US:707598004" "UMLS:C0024636" "UMLS:C4280614" "SNOMEDCT_US:47944004" + "ICDO:8450/0" + "MEDGEN:41386" + "MESH:D018292" + "UMLS:C0010636" + "NCIT:C2974" "DOID:13575" "MEDGEN:845321" "ICD9:252.02" @@ -121759,13 +121759,13 @@ "SCTID:763276000" "MEDGEN:1641655" "RRID:CVCL_DR61" + "PMID:29875488" "DOID:0070244" "UMLS:C5568562" "OMIM:616276" "Orphanet:457185" "GARD:17796" "MEDGEN:1799985" - "PMID:29875488" "GAZ:00004525" "UMLS:C1849134" "OMIM:614671" @@ -121783,8 +121783,8 @@ "PMID:35347128" "PMID:35995766" "PMID:35347128" - "RGD:1359002" "PMID:23823483" + "RGD:1359002" "MEDGEN:350942" "OMIM:603622" "DOID:0110548" @@ -122339,16 +122339,16 @@ "UMLS:C0024473" "MONDO:0006844" "MeSH:D008275" - "MESH:C565851" - "OMIM:215450" - "MEDGEN:347799" - "GARD:1305" - "UMLS:C1859098" "MEDGEN:330750" "GARD:3026" "OMIM:137600" "UMLS:C1842031" "DOID:0080609" + "MESH:C565851" + "OMIM:215450" + "MEDGEN:347799" + "GARD:1305" + "UMLS:C1859098" "MONDO:0005384" "MedDRA:10034063" "ICD9:345.50" @@ -122392,8 +122392,6 @@ "SCTID:266254007" "MEDGEN:539079" "DOID:807" - "PMID: 26629530" - "RRID:CVCL_IS01" "UMLS:C0040435" "SCTID:234947003" "ICD10:K08" @@ -122404,6 +122402,8 @@ "MEDGEN:11852" "DOID:1091" "NCIT:C35077" + "PMID: 26629530" + "RRID:CVCL_IS01" "Orphanet:400018" "GARD:21692" "OMIM:186580" @@ -122742,8 +122742,9 @@ "UMLS:C4693816" "MEDGEN:1633724" "OMIM:617977" - "FBbt:00005526" "ICD10:L68.2" + "FBbt:00005526" + "ICD10:M89.2" "PMID:33723576" "SCTID:234468009" "MESH:C562865" @@ -122752,7 +122753,6 @@ "OMIM:612356" "ICD9:286.3" "UMLS:C0398626" - "ICD10:M89.2" "PMID:29875488" "HP:0001704" "MESH:D014263" @@ -123218,11 +123218,11 @@ "OMIM:613845" "Orphanet:363694" "UMLS:C3151209" + "PMID:35347128" "Orphanet:370006" "OMIM:615926" "MEDGEN:863145" "UMLS:C4014708" - "PMID:35347128" "NCIt:C34995" "OMIM:181000" "MeSH:D012507" @@ -123261,9 +123261,9 @@ "SCTID:763770005" "Orphanet:319189" "MeSH:D008943" + "PMID:34503513" "OMIM:613287" "ICD10:G60.0" - "PMID:34503513" "PMID:35347128" "MP:0003644" "SNOMEDCT_US:444717006" @@ -123801,6 +123801,10 @@ "MEDGEN:113161" "UMLS:C0221289" "NCIT:C3829" + "MEDGEN:1804672" + "OMIM:619935" + "UMLS:C5677009" + "SNOMEDCT:17370001" "SCTID:445187004" "NORD:1926" "ORDO:81" @@ -123815,16 +123819,12 @@ "UMLS:C2609059" "MedDRA:10068801" "PMID:35347128" - "MEDGEN:1804672" - "OMIM:619935" - "UMLS:C5677009" - "SNOMEDCT:17370001" - "PMID:23823483" "GARD:20856" "MEDGEN:1841544" "UMLS:C5816684" "Orphanet:262682" "RGD:1578695" + "PMID:23823483" "MEDGEN:65960" "UMLS:C0238352" "NCIT:C7730" @@ -123869,11 +123869,11 @@ "PMID:34610981" "PMID:35888748" "PMID:30134952" + "PMID:29875488" "MEDGEN:754440" "UMLS:C2939445" "SCTID:92557009" "DOID:0050614" - "PMID:29875488" "DOID:11266" "MedDRA:10075020" "MeSH:D006480" @@ -124401,7 +124401,6 @@ "NCIt:C25436" "NCIt:C86947" "NCIt:C48949" - "PMID:12691914" "ONCOTREE:AODG" "MEDGEN:90812" "NCIT:C4326" @@ -124416,6 +124415,7 @@ "GARD:9472" "MONDO:0016696" "GARD:0009472" + "PMID:12691914" "OMIM:613884" "DOID:0060391" "Orphanet:1587" @@ -124427,12 +124427,6 @@ "PMID:35347128" "OMIM:222470" "OMIM:614602" - "MeSH:D058497" - "ICD10:Q87.0" - "MedDRA:10080219" - "OMIM:617666" - "OMIM:617667" - "OMIM:219000" "SCTID:440422002" "NCIT:C7149" "MONDO:0005235" @@ -124440,10 +124434,12 @@ "UMLS:C1531608" "EFO:0003073" "DOID:9551" - "UMLS:C0796182" - "OMIM:603671" - "MeSH:C535657" - "ICD10:Q75.8" + "MeSH:D058497" + "ICD10:Q87.0" + "MedDRA:10080219" + "OMIM:617666" + "OMIM:617667" + "OMIM:219000" "PMID:33634981" "AAO:0000545" "UMLS:C0035561" @@ -124462,6 +124458,10 @@ "ZFA:0000538" "EMAPA:18010" "Wikipedia:Rib" + "UMLS:C0796182" + "OMIM:603671" + "MeSH:C535657" + "ICD10:Q75.8" "ICD9:078.89" "NCIT:C128418" "MESH:D007835" @@ -124501,6 +124501,7 @@ "SCTID:713277006" "Orphanet:447777" "UMLS:C1328407" + "PMID:29875488" "ICD9:350.1" "icd11.foundation:1803581281" "MedDRA:10044652" @@ -124518,7 +124519,6 @@ "MESH:D014277" "SCTID:31681005" "ICD10CM:G50.0" - "PMID:29875488" "ICD10:Q92.3" "MeSH:D014183" "MeSH:D064593" @@ -124676,8 +124676,8 @@ "MEDGEN:384495" "UMLS:C2202743" "DOID:6339" - "NCIt:C147359" "PMID:32321835" + "NCIt:C147359" "NANDO:1200236" "MESH:D016109" "SCTID:79855003" @@ -124722,10 +124722,6 @@ "UMLS:C0206767" "MESH:D018297" "PMID:30217807" - "UMLS:C0279687" - "NCIT:C7986" - "DOID:6037" - "MEDGEN:76015" "UMLS:C2749049" "DOID:0060446" "SCTID:718579008" @@ -124734,6 +124730,10 @@ "Orphanet:293621" "OMIM:300779" "MESH:C567587" + "UMLS:C0279687" + "NCIT:C7986" + "DOID:6037" + "MEDGEN:76015" "SCTID:27052006" "MEDGEN:6186" "ICD9:084.1" @@ -125525,6 +125525,10 @@ "MEDGEN:102385" "ICD10:M27.1" "NCIT:C121893" + "MedDRA:10053240" + "OMIM:232700" + "ICD10:E74.0" + "UMLS:C0017925" "NANDO:2201167" "MESH:C564485" "GARD:3858" @@ -125534,10 +125538,6 @@ "UMLS:C1845151" "OMIM:300559" "Orphanet:715" - "MedDRA:10053240" - "OMIM:232700" - "ICD10:E74.0" - "UMLS:C0017925" "PMID:29875488" "MeSH:C569686" "ICD9:215.9" @@ -125681,10 +125681,10 @@ "Orphanet:79301" "MEDGEN:335883" "OMIM:607765" - "GARD:19189" - "Orphanet:93424" "http://www.ajnr.org/content/18/7/1364.full.pdf" "EFO:0005699" + "GARD:19189" + "Orphanet:93424" "OMIM:616534" "MEDGEN:907624" "GARD:16132" @@ -125713,12 +125713,12 @@ "PMID:31367044" "MESH:D011387" "NCIt:C22729" - "UMLS:C2931364" - "MeSH:C536898" "MEDGEN:904751" "OMIM:616278" "DOID:0111066" "UMLS:C4225390" + "UMLS:C2931364" + "MeSH:C536898" "PMID:29875488" "DOID:10627" "MEDGEN:509897" @@ -125733,6 +125733,7 @@ "icd11.foundation:592246939" "GARD:20142" "PMID:35347128" + "PMID:24816252" "EHDAA2_RETIRED:0003154" "EFO:0000807" "SCTID:361692004" @@ -125758,7 +125759,6 @@ "XAO:0000176" "MESH:D034582" "MIAA:0000033" - "PMID:24816252" "Wikipedia:Color_blindness" "Orphanet:319691" "SNOMEDCT:51445007" @@ -125864,12 +125864,12 @@ "SCTID:726358004" "Orphanet:262687" "ICD10:Q93.5" - "PMID:28240269" "SCTID:363451005" "MEDGEN:509337" "UMLS:C0153599" "DOID:11839" "ICD9:187.2" + "PMID:28240269" "CAS:627-77-0" "PMID:18989563" "PMID:16082501" @@ -125899,9 +125899,9 @@ "MESH:D019337" "UMLS:CN242171" "Orphanet:466729" - "PMID:28194004" "UMLS:C0023316" "SNOMEDCT_US:65814009" + "PMID:28194004" "MeSH:D048373" "SNOMEDCT:4099006" "UMLS:C0432322" @@ -126279,14 +126279,14 @@ "PMID:28240269" "PMID:29875488" "PMID:35347128" - "OMIM:606407" - "ICD10:Q93.5" - "PMID:35347128" - "PMID:27839851" "ICD10:M91.8" "UMLS:C1860596" "MeSH:C536472" "OMIM:191520" + "OMIM:606407" + "ICD10:Q93.5" + "PMID:35347128" + "PMID:27839851" "GARD:5683" "ICD9:759.89" "NANDO:2200979" @@ -126356,10 +126356,10 @@ "MedDRA:10052452" "DOID:0060849" "UMLS:C0432252" - "PMID:35347128" "OMIM:215500" "UMLS:C4551884" "MEDGEN:1639900" + "PMID:35347128" "DOID:0112063" "OMIM:301051" "UMLS:C5435745" @@ -126666,7 +126666,6 @@ "AAO:0010372" "EFO:0003684" "XAO:0003179" - "PMID:29875488" "Reaxys:1727945" "PMID:23989918" "DrugBank:DB01727" @@ -126694,6 +126693,7 @@ "UMLS:C4755274" "GARD:17175" "MEDGEN:1668791" + "PMID:29875488" "Orphanet:3050" "NCIt:C76204" "SNOMEDCT:57522007" @@ -127118,6 +127118,7 @@ "BTO:0003104" "GARD:19686" "Orphanet:99739" + "PMID:29875488" "NANDO:2200690" "SCTID:1563006" "UMLS:C0242666" @@ -127130,7 +127131,6 @@ "NANDO:2100198" "NANDO:1201081" "MEDGEN:69229" - "PMID:29875488" "NCIt:C14192" "SNOMEDCT:34618005" "MeSH:D002417" @@ -128000,16 +128000,16 @@ "ICD9:517" "NCIt:C26871" "ICD10:J99" - "ICD10:J06" "ICD9:516.8" + "ICD10:J06" "DOID:1579" "ICD9:519.3" "ICD9:510-519.99" "SNOMEDCT:50043002" "ICD9:V12.60" "SCTID:50043002" - "ICD10CM:J00-J99" "ICD9:508.1" + "ICD10CM:J00-J99" "MEDGEN:48421" "ICD9:516.9" "ICD10:J39" @@ -128225,7 +128225,6 @@ "NCIt:C5396" "PMID:29875488" "PMID:34610981" - "LIPID_MAPS_instance:LMFA03060085" "OMIMPS:239300" "MEDGEN:383800" "Orphanet:247262" @@ -128233,6 +128232,7 @@ "DOID:0070431" "GARD:17188" "SCTID:33982008" + "LIPID_MAPS_instance:LMFA03060085" "PMID:35888748" "UMLS:C4024736" "PMID:31530798" @@ -128253,7 +128253,6 @@ "MEDGEN:1648355" "OMIM:618284" "PMID:29875488" - "PMID:35347128" "BTO:0003925" "SCTID:362214007" "Wikipedia:Renal_papilla" @@ -128264,6 +128263,7 @@ "MESH:D007679" "NCIT:C33460" "MA:0002730" + "PMID:35347128" "PMID:35347128" "Wikipedia:Photic_sneeze_reflex" "MeSH:C535300" @@ -128622,6 +128622,7 @@ "UMLS:C4693863" "OMIM:617993" "MEDGEN:1640532" + "NCIt:C4838" "MEDGEN:440690" "GARD:12766" "UMLS:C2749022" @@ -128631,7 +128632,6 @@ "OMIM:300801" "DOID:0060461" "MESH:C567585" - "NCIt:C4838" "SNOMEDCT_US:49601007" "ICD10:R09" "UMLS:C0007222" @@ -128671,9 +128671,9 @@ "SNOMEDCT:36012007" "SNOMEDCT:257970008" "WebElements:N" + "OMIMPS:301108" "OMIM:611863" "ICD10:Q15.8" - "OMIMPS:301108" "NCIt:C12803" "MeSH:D014129" "MO:858" @@ -128836,7 +128836,6 @@ "MESH:C538160" "Orphanet:2001" "MEDGEN:444135" - "PMID:36210801" "OMIM:261000" "GARD:3024" "MedDRA:10070440" @@ -128848,6 +128847,7 @@ "DOID:0050734" "UMLS:C1394891" "SCTID:34925000" + "PMID:36210801" "SNOMEDCT:5595000" "MeSH:D012485" "http://purl.obolibrary.org/obo/NCIT_C103446" @@ -128969,9 +128969,9 @@ "OMIM:277440" "ICD10:E83.3" "OMIM:600785" + "PMID:29875488" "http://orcid.org/0000-0001-9043-693X" "Wikipedia:Remnant_cholesterol" - "PMID:29875488" "DOID:0110160" "MONDO:0014866" "UMLS:C4015635" @@ -129051,8 +129051,8 @@ "UMLS:C0156312" "SNOMEDCT_US:17585008" "VHOG:0001038" - "EMAPA:17672" "CALOHA:TS-0662" + "EMAPA:17672" "BTO:0004480" "MA:0001865" "EHDAA2:0001241" @@ -129298,7 +129298,6 @@ "ICD9:255.41" "Orphanet:95409" "MEDGEN:56227" - "PMID:29875488" "SCTID:715201005" "GARD:16592" "MEDGEN:1784105" @@ -129322,6 +129321,7 @@ "Orphanet:631106" "MEDGEN:1805601" "UMLS:C5676950" + "PMID:29875488" "MeSH:D005106" "UMLS:C3891828" "OMIM:260370" @@ -129622,6 +129622,9 @@ "OMIM:300814" "MEDGEN:463102" "PMID:28240269" + "UMLS:C2931197" + "OMIM:600991" + "ICD10:Q87.8" "PMID:29875488" "MeSH:D001886" "NCIt:C76205" @@ -129641,9 +129644,6 @@ "OMIM:231000" "SCTID:5963005" "GARD:2443" - "UMLS:C2931197" - "OMIM:600991" - "ICD10:Q87.8" "PMID:28240269" "MedDRA:10052306" "UMLS:C5680106" @@ -129730,8 +129730,8 @@ "MESH:D044682" "FMA:14545" "galen:AscendingColon" - "CALOHA:TS-0057" "EMAPA:35151" + "CALOHA:TS-0057" "MA:0001541" "EFO:0000843" "MAT:0000311" @@ -129916,14 +129916,14 @@ "UMLS:C0149978" "DOID:1996" "NCIT:C9383" - "MedDRA:10002545" - "ICD10:S93" - "ICD10:S91" "GARD:17882" "MEDGEN:1798941" "UMLS:C5567518" "Orphanet:486811" "OMIMPS:616866" + "MedDRA:10002545" + "ICD10:S93" + "ICD10:S91" "MEDGEN:317974" "UMLS:C1709308" "MONDO:0006327" @@ -130641,9 +130641,9 @@ "COHD:437238" "UMLS:C0334298" "SCTID:253002004" - "ZFA:0001263" "ICD10:E76.2" "OMIM:601492" + "ZFA:0001263" "DOID:8211" "MEDGEN:273292" "UMLS:C1517111" @@ -131193,7 +131193,6 @@ "WebElements:Ca" "NCIt:C331" "PMID:33634981" - "PMID:29875488" "NCIt:C85545" "MeSH:D009163" "SNOMEDCT:27142009" @@ -131209,6 +131208,7 @@ "CAS:106-46-7" "PMID:23899931" "UM-BBD_compID:c0593" + "PMID:29875488" "PMID:29875488" "ICD10:Q87.8" "UMLS:C0265249" @@ -131453,13 +131453,13 @@ "OMIM:601042" "UMLS:C1832855" "DOID:0090044" + "PMID:35347128" "PMID:26999359" "DOID:0080652" "UMLS:C5779632" "MEDGEN:1830325" "OMIM:167030" "SNOMEDCT:19741003" - "PMID:35347128" "GARD:17880" "RRID:CVCL_4056" "BTO:0002864" @@ -131633,12 +131633,10 @@ "Orphanet:391411" "GARD:17621" "MEDGEN:1380105" - "PMID:35347128" "NCIT:C53555" "MEDGEN:770986" "DOID:0080674" "UMLS:C3642346" - "PMID:33634981" "EMAPA:16982" "BIRNLEX:2564" "EFO:0003543" @@ -131653,10 +131651,8 @@ "EHDAA:6653" "TAO:0000588" "EHDAA2:0002196" - "MEDGEN:275296" - "DOID:2153" - "UMLS:C1518746" - "NCIT:C40443" + "PMID:35347128" + "PMID:33634981" "UMLS:C3495490" "MEDGEN:501193" "GARD:514" @@ -131665,6 +131661,10 @@ "OMIM:102520" "DOID:0060347" "MESH:C563159" + "MEDGEN:275296" + "DOID:2153" + "UMLS:C1518746" + "NCIT:C40443" "GAZ:00004474" "UMLS:C2749007" "GARD:15266" @@ -131798,10 +131798,6 @@ "OMIM:617108" "MEDGEN:934681" "UMLS:C4310714" - "MEDGEN:863355" - "GARD:16044" - "OMIM:616001" - "UMLS:C4014918" "UMLS:C1840347" "OMIM:145981" "DOID:0060701" @@ -131809,6 +131805,10 @@ "GARD:9758" "Orphanet:101049" "MEDGEN:374447" + "MEDGEN:863355" + "GARD:16044" + "OMIM:616001" + "UMLS:C4014918" "PMID:29875488" "ZFA:0009335" "UMLS:C0795902" @@ -132239,8 +132239,8 @@ "ICD9:170.7" "SCTID:449627008" "PMID:23823483" - "https://en.wikipedia.org/wiki/Cholesterylester_transfer_protein" "PMID:29728394" + "https://en.wikipedia.org/wiki/Cholesterylester_transfer_protein" "DOID:0050758" "UMLS:C0220981" "MEDGEN:65117" @@ -132337,7 +132337,6 @@ "NCIt:C62578" "MEDGEN:137987" "MONDO:0001956" - "PMID:35347128" "UMLS:C4025043" "MedDRA:10005166" "NCIT:C34431" @@ -132349,6 +132348,7 @@ "MEDGEN:600" "MeSH:D001765" "UMLS:C0005750" + "PMID:35347128" "NCIT:C12910" "Wikipedia:Mucosa-associated_lymphoid_tissue" "FMA:62819" @@ -132964,7 +132964,6 @@ "DOID:9165" "ICD9:698.4" "SCTID:402736003" - "PMID:28240269" "NCIT:C4022" "ONCOTREE:ACRM" "DOID:6367" @@ -132973,6 +132972,7 @@ "HP:0012060" "MEDGEN:87530" "SCTID:254732008" + "PMID:28240269" "OMIM:617804" "UMLS:C4540496" "MEDGEN:1622162" @@ -133095,8 +133095,8 @@ "MESH:C566516" "OMIM:602596" "MEDGEN:355383" - "PMID:29875488" "NCIt:C116204" + "PMID:29875488" "MEDGEN:1644708" "SCTID:766767001" "GARD:21698" @@ -133307,13 +133307,13 @@ "ICD9:799.9" "ICD10CM:T80-T88" "MESH:D007049" + "FMA:7133" + "BTO:0002483" "NCIT:C8178" "MEDGEN:124718" "EFO:1000260" "UMLS:C0280310" "MONDO:0006213" - "FMA:7133" - "BTO:0002483" "DOID:5302" "NCIT:C40139" "SNOMEDCT:396163008" @@ -133593,11 +133593,11 @@ "CAS:51146-56-6" "Beilstein:3590020" "ICD10:N97.2" + "PMID:29875488" "UMLS:C0276138" "MEDGEN:547112" "SCTID:89141000" "NCIT:C128381" - "PMID:29875488" "PMID:25799993" "PMID:35347128" "OMIM:305350" @@ -134032,10 +134032,10 @@ "UMLS:C2673630" "GARD:15165" "PMID:29875488" + "PMID:35347128" "UMLS:C1263858" "ICD10:G71.2" "OMIM:607855" - "PMID:35347128" "SNOMEDCT_US:25762009" "UMLS:C0234502" "Orphanet:99810" @@ -134363,11 +134363,11 @@ "OMIM:616005" "DOID:0111949" "UMLS:C4014934" - "UMLS:C4025355" "UMLS:C0265289" "OMIM:156500" "MeSH:C537352" "ICD10:Q78.5" + "UMLS:C4025355" "GARD:4954" "OMIM:608029" "Orphanet:284332" @@ -134797,8 +134797,8 @@ "EHDAA:8293" "Wikipedia:Gastrocnemius_muscle" "FMA:22541" - "NCIT:C32666" "EFO:0001413" + "NCIT:C32666" "EHDAA2:0000701" "galen:Gastrocnemius" "VHOG:0001193" @@ -135105,6 +135105,7 @@ "UMLS:C1837728" "MESH:C563895" "PMID:33462484" + "PMID:37164013" "PMID:29875488" "Orphanet:93441" "MESH:D002805" @@ -135116,8 +135117,6 @@ "NCIT:C34955" "UMLS:C0553730" "ICD9:712.1" - "PMID:37164013" - "PMID:29875488" "GARD:20109" "Orphanet:168966" "UMLS:C0545080" @@ -135133,6 +135132,7 @@ "UMLS:C0022658" "UMLS:C1408258" "MedDRA:10083870" + "PMID:29875488" "FMA:14582" "galen:WallOfStomach" "MA:0002692" @@ -135246,18 +135246,18 @@ "EC:3.2.1.35" "Reactome:R-HSA-2160892" "Reactome:R-HSA-1793209" - "UMLS:C0220686" - "OMIM:147800" - "MedDRA:10063429" - "ICD10:Q87.8" - "MeSH:C535332" + "PMID:36006120" "ICD9:788.1" "SNOMEDCT:49650001" "MedDRA:10013990" "ICD10:R30" "NCIt:C2999" "MeSH:D053159" - "PMID:36006120" + "UMLS:C0220686" + "OMIM:147800" + "MedDRA:10063429" + "ICD10:Q87.8" + "MeSH:C535332" "MeSH:D012553" "SCTID:236706006" "DOID:1394" @@ -136015,13 +136015,13 @@ "ICD10CM:C68.0" "DOID:734" "OMIM:614303" - "DOID:8481" "NCIT:C35202" "MEDGEN:56370" "UMLS:C0155557" "ICD9:391.9" "SCTID:195136004" "ICD9:398.0" + "DOID:8481" "PMID:23364568" "MEDGEN:C0002768" "PMID:92193" @@ -136418,6 +136418,7 @@ "SNOMEDCT:8331005" "NCIt:C86288" "PMID:28240269" + "PMID:33634981" "Orphanet:68383" "ICD9:284.0" "ICD10CM:D61.0" @@ -136430,7 +136431,6 @@ "MEDGEN:1826154" "SCTID:28975000" "ICD9:284.09" - "PMID:33634981" "UMLS:C2169806" "OMIM:615590" "UMLS:C3810041" @@ -136473,9 +136473,9 @@ "PMID:30053915" "PMID:28204635" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03175&Product=CC" - "PMID:29875488" - "PMID:34982741" "UMLS:C0855323" + "PMID:34982741" + "PMID:29875488" "ICD10:E77.8" "OMIM:212065" "PMID:23823483" @@ -136526,13 +136526,13 @@ "Wikipedia:Precentral_gyrus" "NCIt:C74895" "SNOMEDCT:76609004" - "T3DB:T3D0966" "ICD9:170.9" "UMLS:C0855052" "DOID:3357" "NCIT:C8810" "SCTID:404077005" "MEDGEN:163186" + "T3DB:T3D0966" "MO:792" "PMID:1737356" "PMID:24816252" @@ -136741,8 +136741,6 @@ "NCIT:C4935" "EFO:1000300" "UMLS:C0745216" - "TGEMO:00050" - "MGI:2160604" "OMIM:301030" "MEDGEN:930741" "DOID:0111840" @@ -136752,6 +136750,8 @@ "UMLS:C4305072" "SNOMEDCT:115015008" "NCIt:C86632" + "TGEMO:00050" + "MGI:2160604" "MeSH:C001803" "PMID:29875488" "MEDGEN:338570" @@ -137069,7 +137069,6 @@ "SCTID:26468004" "ICD10CM:H35.82" "PMID:28240269" - "PMID:30659259" "UMLS:C0041178" "CALOHA:TS-1070" "Wikipedia:Trophoblast" @@ -137080,6 +137079,7 @@ "NCIT:C93292" "BTO:0001079" "EV:0100120" + "PMID:30659259" "MESH:D010899" "Orphanet:95613" "SNOMEDCT:237701005" @@ -137133,8 +137133,8 @@ "ChemIDplus:88191-48-4 \"CAS Registry Number\"" "PMID:29604256" "PMID:24825545" - "PMID:24266106" "PMID:26653744" + "PMID:24266106" "MedDRA:10063945" "PMID:37164013" "GAID:198" @@ -137518,10 +137518,6 @@ "DOID:0111199" "MEDGEN:1662655" "PMID:34814699" - "MEDGEN:1842685" - "GARD:21222" - "Orphanet:295219" - "UMLS:C5679985" "Beilstein:1910407" "PMID:22264337" "Reaxys:1910407" @@ -137537,6 +137533,10 @@ "NIST Chemistry WebBook:150-30-1" "KEGG:C02057" "Gmelin:50836" + "MEDGEN:1842685" + "GARD:21222" + "Orphanet:295219" + "UMLS:C5679985" "UMLS:C0344616" "NANDO:2200259" "NANDO:1200699" @@ -137854,6 +137854,7 @@ "GARD:2730" "MEDGEN:75703" "MESH:C535328" + "RRID:CVCL_7955" "MONDO:0006836" "SNOMEDCT:31568009" "ICD9:320.7" @@ -137863,7 +137864,6 @@ "MeSH:D008584" "MESH:D008584" "MEDGEN:7536" - "RRID:CVCL_7955" "CLO:0009015" "RRID:CVCL_0019" "BTO:0000793" @@ -137886,8 +137886,8 @@ "UMLS:C1838606" "MEDGEN:374010" "Orphanet:1352" - "PMID:19347970" "UMLS:C4021984" + "PMID:19347970" "UMLS:C4025352" "UMLS:C5436476" "DOID:0112114" @@ -138106,6 +138106,11 @@ "UMLS:C2930954" "PMID:35347128" "PMID:35347128" + "UMLS:C4014557" + "OMIM:615883" + "GARD:16026" + "DOID:0080686" + "MEDGEN:862994" "UMLS:C0003864" "MONDO:0005578" "DOID:848" @@ -138119,11 +138124,6 @@ "NCIt:C2883" "Wikipedia:Arthritis" "MeSH:D001168" - "UMLS:C4014557" - "OMIM:615883" - "GARD:16026" - "DOID:0080686" - "MEDGEN:862994" "PMID:29875488" "PMID:2474544" "NCIT:C27682" @@ -138459,7 +138459,6 @@ "UMLS:C2936741" "MeSH:D007713" "ICD10:Q98.8" - "ICD10:D82.8" "UMLS:C1370889" "EFO:0000736" "ICDO:8851/3" @@ -138470,6 +138469,7 @@ "NCIT:C4250" "ONCOTREE:WDLS" "GARD:19721" + "ICD10:D82.8" "ZFA:0001321" "OMIM:620186" "MEDGEN:1824056" @@ -138581,8 +138581,8 @@ "PMID:8622117" "PMID:25296102" "MeSH:D000583" - "PMID:20195673" "KEGG:C06820" + "PMID:20195673" "PMID:25630642" "Beilstein:5915117" "DrugBank:DB00479" @@ -138755,6 +138755,9 @@ "MEDGEN:78892" "PMID:35050183" "PMID:28240269" + "EC:3.5.1.52" + "MetaCyc:3.5.1.52-RXN" + "Reactome:R-HSA-8850594" "NANDO:1200874" "DOID:13481" "UMLS:C0039743" @@ -138767,9 +138770,6 @@ "SCTID:29352008" "GARD:85" "ICD9:259.4" - "EC:3.5.1.52" - "MetaCyc:3.5.1.52-RXN" - "Reactome:R-HSA-8850594" "PMID:23823483" "BTO:0000834" "RRID:CVCL_1171" @@ -139228,9 +139228,9 @@ "BTO:0005964" "PMID:29875488" "ZFA:0005168" - "SCTID:272023004" "NCIT:C32281" "FMA:17544" + "SCTID:272023004" "Wikipedia:Central_veins_of_liver" "TAO:0005168" "MESH:C563321" @@ -139573,12 +139573,12 @@ "ICD9:362.10" "icd11.foundation:1216073790" "GARD:18912" - "OMIM:607371" - "ICD10:Q87.8" "OMIM:602613" "MESH:C566514" "MEDGEN:400685" "UMLS:C1865117" + "OMIM:607371" + "ICD10:Q87.8" "SCTID:254601002" "UMLS:C0345906" "DOID:270" @@ -140483,14 +140483,14 @@ "UMLS:C0010051" "ZFA:0001244" "PMID:29875488" - "BTO:0003619" - "RRID:CVCL_C190" - "CLO:0009378" "MESH:D015434" "FMA:74315" "MA:0000473" "EMAPA:35829" "BTO:0004042" + "BTO:0003619" + "RRID:CVCL_C190" + "CLO:0009378" "ZFA:0001356" "UMLS:C0016045" "MESH:D005350" @@ -140866,6 +140866,7 @@ "OMIM:308960" "ICD9:208.0" "MEDGEN:43225" + "RRID:CVCL_8607" "ICD10CM:D72.823" "MedDRA:10024373" "ICD10:D72.823" @@ -140878,7 +140879,6 @@ "SCTID:56478004" "MONDO:0006829" "ICD9:288.62" - "RRID:CVCL_8607" "MEDGEN:1842714" "UMLS:C5679914" "GARD:17573" @@ -140949,7 +140949,6 @@ "BTO:0002976" "Reaxys:4383181" "Beilstein:4383181" - "HMDB:0039133" "GARD:3957" "Orphanet:35069" "DOID:0110735" @@ -140961,6 +140960,7 @@ "NCIT:C84927" "ICD9:330.8" "MEDGEN:82852" + "HMDB:0039133" "MEDGEN:137837" "UMLS:C0338113" "EFO:0002914" @@ -140975,8 +140975,8 @@ "DOID:5165" "GARD:20476" "PMID:26212336" - "EHDAA:127" "EHDAA:152" + "EHDAA:127" "VHOG:0000683" "EMAPA:16067" "NCIT:C33919" @@ -141228,8 +141228,8 @@ "SCTID:422833009" "UMLS:C0279751" "NCIT:C8026" - "PMID:24816252" "PMID:28240269" + "PMID:24816252" "UMLS:C4025279" "UMLS:C0935626" "AEO:0000094" @@ -141490,7 +141490,6 @@ "SO:0000624" "MESH:D006962" "MEDGEN:9368" - "MedDRA:10020708" "NCIT:C113335" "UMLS:C0020503" "NCIt:C113335" @@ -141499,6 +141498,7 @@ "MONDO:0006964" "DOID:12466" "HP:0000867" + "MedDRA:10020708" "MeSH:D006962" "PMID:21953190" "KNApSAcK:C00001508" @@ -141586,6 +141586,7 @@ "SCTID:702448007" "Orphanet:98806" "DOID:0090039" + "UMLS:C1514580" "ZFA:0005290" "EMAPA:28287" "TAO:0005290" @@ -141596,7 +141597,6 @@ "MA:0001669" "NCIT:C33417" "FMA:17693" - "UMLS:C1514580" "UMLS:C0334499" "NCIT:C8978" "DOID:2700" @@ -141772,8 +141772,8 @@ "UMLS:C0030521" "SCTID:127020005" "NCIT:C3313" - "MEDGEN:10586" "ICD9:239.7" + "MEDGEN:10586" "UMLS:C0268127" "MedDRA:10070969" "SNOMEDCT:255554000" @@ -142044,13 +142044,13 @@ "NCIt:C41205" "PMID:29875488" "GARD:19086" + "PMID:33634981" "Orphanet:221008" "OMIM:618625" "GARD:17134" "MEDGEN:1684764" "NCIT:C178826" "UMLS:C5231433" - "PMID:33634981" "MEDGEN:639047" "GARD:16564" "MESH:C563984" @@ -142147,13 +142147,13 @@ "BTO:0001885" "CLO:0007736" "RRID:CVCL_1418" - "PMID:33409738" "MEDGEN:410064" "MESH:C567043" "OMIM:610965" "DOID:0060590" "NCIT:C173111" "UMLS:C1970416" + "PMID:33409738" "Wikipedia:Explosive_material" "SCTID:722763000" "MEDGEN:1814585" @@ -142183,8 +142183,8 @@ "ICD9:157.2" "ICD9:157.0" "ICD9:157.8" - "ICD9:157.1" "MONDO:0009831" + "ICD9:157.1" "DOID:1793" "NCIt:C9005" "FBbt:00005476" @@ -142454,10 +142454,10 @@ "EC:3.2.1.28" "Reactome:R-HSA-188985" "PMID:26340991" + "Wikipedia:Perineal_tear" "SCTID:415991003" "UMLS:C1562298" "MEDGEN:736361" - "Wikipedia:Perineal_tear" "PMID:23823483" "OMIM:192600" "UMLS:C3495498" @@ -142586,12 +142586,12 @@ "MEDGEN:1810936" "Orphanet:79085" "RRID:CVCL_6230" - "PMID:35347128" "MEDGEN:766913" "UMLS:C3553999" "GARD:15873" "OMIM:614882" "DOID:0080484" + "PMID:35347128" "RRID:CVCL_D316" "DOID:10488" "NORD:1299" @@ -142603,7 +142603,6 @@ "UMLS:C0003466" "SCTID:204731006" "NCIT:C84784" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03342&Product=CC" "GTR:AN0543890" "SCTID:80660001" "MEDGEN:526123" @@ -142611,6 +142610,7 @@ "ICD9:258.1" "UMLS:C0221005" "GTR:AN0543843" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03342&Product=CC" "PMID:29875488" "PMID:29875488" "UMLS:C0014130" @@ -142646,11 +142646,11 @@ "MeSH:D023921" "NCIt:C80427" "SNOMEDCT:251030009" + "SNOMEDCT:60649002" + "MeSH:D010974" "MEDGEN:1648327" "OMIM:618092" "UMLS:C4748152" - "SNOMEDCT:60649002" - "MeSH:D010974" "UMLS:C3278384" "DOID:0112263" "MEDGEN:480014" @@ -142705,10 +142705,10 @@ "ICD10CM:C25.4" "UMLS:C4022908" "UMLS:C4020727" - "PMID:36168886" "OMIM:618973" "UMLS:C5436520" "MEDGEN:1771692" + "PMID:36168886" "DOID:0060136" "MEDGEN:91072" "SCTID:254713002" @@ -142812,12 +142812,12 @@ "SCTID:763792009" "MESH:C535889" "GARD:9759" + "MONDO:0006389" "UMLS:C1335518" "MEDGEN:233356" "EFO:1000498" "NCIT:C5522" "DOID:3252" - "MONDO:0006389" "NCIt:C12717" "BTO:0001284" "MESH:C535849" @@ -142934,8 +142934,8 @@ "CAS:50-76-0" "Drug_Central:774" "Beilstein:4173766" - "LINCS:LSM-5783" "KEGG:D00214" + "LINCS:LSM-5783" "UMLS:C4020861" "UMLS:C1839797" "PMID:24816252" @@ -143032,9 +143032,9 @@ "GARD:19184" "Orphanet:93400" "MEDGEN:1843300" - "PMID:28240269" "OMIM:611228" "ICD10:G60.0" + "PMID:28240269" "GARD:1503" "UMLS:C0345375" "SCTID:93255008" @@ -143075,8 +143075,8 @@ "OMIM:300845" "OMIM:106995" "ICD10:Q84.6" - "PMID:23823483" "PMID:33204752" + "PMID:23823483" "UMLS:C0028977" "EV:0100084" "CALOHA:TS-2004" @@ -143252,8 +143252,8 @@ "UMLS:C0206672" "DOID:3893" "EFO:1000967" - "MESH:D018251" "NCIT:C3760" + "MESH:D018251" "MEDGEN:61656" "MedDRA:10059019" "SCTID:254725004" @@ -143299,7 +143299,6 @@ "ICD9:099.2" "NCIt:C92258" "SNOMEDCT:313995005" - "NCIt:C38003" "DOID:864" "SNOMEDCT:61599003" "NCIT:C38003" @@ -143311,6 +143310,7 @@ "ICD10:I80" "MeSH:D010689" "SCTID:61599003" + "NCIt:C38003" "PMID:24578530" "SNOMEDCT_US:267258002" "SNOMEDCT_US:276610007" @@ -143402,17 +143402,17 @@ "UMLS:C1858118" "MEDGEN:346746" "OMIM:604801" + "UMLS:C2987239" + "MONDO:0006347" + "NCIT:C95582" + "MEDGEN:459465" + "EFO:1000442" "PMID:36168886" "OMIM:608808" "DOID:0060771" "MESH:C563853" "MEDGEN:332422" "UMLS:C1837341" - "UMLS:C2987239" - "MONDO:0006347" - "NCIT:C95582" - "MEDGEN:459465" - "EFO:1000442" "PMID:35347128" "ICD10:G93" "ICD9:348.3" @@ -143481,13 +143481,13 @@ "SCTID:126966009" "NCIT:C2963" "MEDGEN:3263" - "PMID:24816252" "MESH:C565198" "UMLS:C1853154" "OMIM:610687" "MEDGEN:343979" "DOID:0110934" "GARD:15493" + "PMID:24816252" "Orphanet:1114" "HP:0001057" "ICD9:757.39" @@ -143825,13 +143825,13 @@ "ICD9:190.8" "UMLS:C0496836" "PMID:24816252" - "PMID:19325077" "CLO:0004283" "BTO:0000182" "RRID:CVCL_0320" "NCIt:C71877" "MeSH:D014902" "SNOMEDCT:57311007" + "PMID:19325077" "OMIM:608462" "OMIM:142623" "OMIM:600156" @@ -144001,6 +144001,8 @@ "NCIT:C142173" "PMID:7528862" "RRID:CVCL_4802" + "UMLS:C0268517" + "ICD10:E72.8" "MESH:C566908" "NCIT:C148461" "UMLS:C4305153" @@ -144008,8 +144010,6 @@ "Orphanet:171680" "OMIM:611603" "MEDGEN:930822" - "UMLS:C0268517" - "ICD10:E72.8" "PMID:35668104" "SNOMEDCT:49370004" "NCIt:C25230" @@ -144238,8 +144238,8 @@ "ICD10:Q45.8" "UMLS:C1332852" "MEDGEN:232027" - "MONDO:0006123" "HP:0009729" + "MONDO:0006123" "NCIT:C6739" "EFO:1000150" "MESH:C564257" @@ -144271,8 +144271,8 @@ "MedDRA:10036794" "MeSH:D011371" "ICD10:E34.8" - "PMID:35347128" "SNOMEDCT:42236003" + "PMID:35347128" "SCTID:433068007" "MONDO:0005396" "NCIt:C27001" @@ -144293,13 +144293,13 @@ "MA:0001809" "EMAPA:37584" "MA:0001810" - "PMID:33634981" "UMLS:C5203410" "Orphanet:221016" "GARD:17135" "OMIM:268400" "NCIT:C178827" "MEDGEN:1684753" + "PMID:33634981" "PMID:25147954" "UMLS:C1306663" "MEDGEN:727129" @@ -144361,13 +144361,6 @@ "OMIM:225320" "MEDGEN:929458" "GARD:12613" - "UMLS:C1840235" - "MESH:C537342" - "MEDGEN:326686" - "SCTID:707609006" - "GARD:4877" - "Orphanet:2286" - "OMIM:147250" "Orphanet:83617" "UMLS:C1864848" "OMIM:610483" @@ -144375,6 +144368,13 @@ "SCTID:722281001" "MESH:C538055" "GARD:10011" + "UMLS:C1840235" + "MESH:C537342" + "MEDGEN:326686" + "SCTID:707609006" + "GARD:4877" + "Orphanet:2286" + "OMIM:147250" "UMLS:C4225341" "GARD:16103" "MEDGEN:904244" @@ -144547,8 +144547,8 @@ "NIST Chemistry WebBook:537-46-2" "PMID:11711870" "PMID:11717374" - "PMID:11221576" "DrugBank:DB01577" + "PMID:11221576" "PMID:18991862" "PMID:11984857" "PMID:11829406" @@ -144598,8 +144598,8 @@ "MeSH:D005438" "Wikipedia:Fludrocortisone" "KEGG:C07004" - "LIPID_MAPS_instance:LMST02030103" "SNOMEDCT:116586002" + "LIPID_MAPS_instance:LMST02030103" "Beilstein:3014278" "NCIt:C71629" "CAS:127-31-1" @@ -144773,12 +144773,12 @@ "SCTID:724090001" "GARD:3959" "Orphanet:2676" - "MEDGEN:747221" - "UMLS:C2316319" - "SCTID:430886005" "UMLS:C4275146" "Orphanet:1434" "MEDGEN:896081" + "MEDGEN:747221" + "UMLS:C2316319" + "SCTID:430886005" "PMID:29875488" "Orphanet:96321" "SCTID:72991005" @@ -144919,7 +144919,6 @@ "MA:0002501" "PMID:28240269" "PMID:33204752" - "PMID:23823483" "PMID:25092597" "Reaxys:3629989" "KNApSAcK:C00000185" @@ -144932,10 +144931,11 @@ "PMID:25700090" "HMDB:HMDB0034423" "PMID:23823483" + "PMID:23823483" "NCIt:C12314" "BTO:0000907" - "MedDRA:10066435" "NCIT:C39291" + "MedDRA:10066435" "MONDO:0005187" "UMLS:C1512508" "NCIt:C39291" @@ -145297,17 +145297,17 @@ "ONCOTREE:SDCA" "MEDGEN:220969" "PMID:36168886" - "ICD10:D81.2" - "PMID:24248345" - "PMID:30586455" "GARD:17313" "DOID:0080060" "MEDGEN:482082" "UMLS:C3280452" "OMIM:614322" "Orphanet:284282" + "ICD10:D81.2" "SNOMEDCT:25510005" "MeSH:D006350" + "PMID:24248345" + "PMID:30586455" "UMLS:C1859198" "Orphanet:99948" "MESH:C535419" @@ -145659,13 +145659,13 @@ "UMLS:C1864695" "MEDGEN:400593" "GARD:12447" + "PMID:23823483" "Beilstein:8331263" "MeSH:C087876" "NCIt:C68370" "KEGG:C18727" "CAS:120928-09-8" "PPDB:292" - "PMID:23823483" "DOID:2598" "UMLS:C0153952" "MEDGEN:56325" @@ -145773,11 +145773,11 @@ "Beilstein:1098492" "Gmelin:25997" "Orphanet:98657" + "UMLS:C1710112" "MONDO:0006421" "EFO:1000538" "MEDGEN:328036" "NCIT:C43552" - "UMLS:C1710112" "GARD:17372" "OMIM:614495" "MEDGEN:483335" @@ -146248,9 +146248,6 @@ "UMLS:C3272399" "MEDGEN:474032" "ONCOTREE:SWDNET" - "UMLS:C0432261" - "OMIM:611497" - "ICD10:Q78.2" "DECIPHER:17" "MESH:D058495" "NANDO:2200953" @@ -146267,6 +146264,9 @@ "NCIT:C75019" "NORD:1727" "GARD:10091" + "UMLS:C0432261" + "OMIM:611497" + "ICD10:Q78.2" "MONDO:0003155" "UMLS:C0018920" "ICDO:9121/0" @@ -146570,6 +146570,7 @@ "Orphanet:238455" "NCIt:C72030" "MeSH:D028463" + "OMIM:601351" "ICD10:C67.8" "ICD10:C67.6" "GARD:11923" @@ -146591,7 +146592,6 @@ "ICD10:C67.1" "ONCOTREE:SCBC" "Orphanet:284400" - "OMIM:601351" "MEDGEN:1825987" "UMLS:C5681538" "GARD:19349" @@ -146768,15 +146768,6 @@ "ONCOTREE:COAD" "DOID:234" "Wikipedia:Plasmopara_viticola" - "PMID:29875488" - "MESH:D020751" - "MEDGEN:65935" - "SCTID:719848005" - "UMLS:C0236970" - "OMIM:615226" - "GARD:18176" - "UMLS:C3808889" - "MEDGEN:815219" "ICD10:E75.2" "MeSH:D052517" "UMLS:C1720864" @@ -146786,6 +146777,15 @@ "DOID:50441" "SNOMEDCT:54898003" "NCIt:C84908" + "PMID:29875488" + "MESH:D020751" + "MEDGEN:65935" + "SCTID:719848005" + "UMLS:C0236970" + "OMIM:615226" + "GARD:18176" + "UMLS:C3808889" + "MEDGEN:815219" "NCIT:C12691" "SCTID:181308008" "UMLS:C0007770" @@ -146860,8 +146860,6 @@ "SCTID:718632004" "PMID:31172493" "PMID:33717105" - "MeSH:C536664" - "UMLS:C1832200" "MA:0000925" "FMA:61884" "PMID:18348718" @@ -146873,6 +146871,8 @@ "DOID:0070162" "NORD:1237" "MEDGEN:5645" + "MeSH:C536664" + "UMLS:C1832200" "EFO:0002613" "NCIT:C35873" "MEDGEN:235203" @@ -147206,8 +147206,8 @@ "NORD:1279" "Orphanet:576" "DOID:0080070" - "PMID:35347128" "ICD10:G31.8" + "PMID:35347128" "PMID:22770225" "PMID:19347970" "SNOMEDCT:113791007" @@ -147267,8 +147267,8 @@ "ICD10WHO:R95" "NCIt:C88418" "MeSH:D008570" - "BTO:0000887" "PMID:28928442" + "BTO:0000887" "GARD:21124" "MEDGEN:38147" "MESH:D016117" @@ -147373,10 +147373,10 @@ "Orphanet:289849" "GARD:17331" "PMID:24136358" - "UMLS:C0685787" - "SNOMEDCT_US:92821006" "MedDRA:10014141" "DOID:11907" + "UMLS:C0685787" + "SNOMEDCT_US:92821006" "MONDO:0001176" "ICD9:379.39" "ICD10:H27" @@ -148105,11 +148105,11 @@ "MONDO:0021223" "MESH:D005770" "NCIT:C3052" - "ICD10:Q87.8" "SNOMEDCT:48694002" "MeSH:D001007" "MedDRA:10002855" "NCIt:C26696" + "ICD10:Q87.8" "PMID:28240269" "GARD:19089" "UMLS:C4303588" @@ -148292,10 +148292,10 @@ "MESH:C567034" "UMLS:C1970269" "icd11.foundation:809856670" + "OMIMPS:203655" "SNOMEDCT:112113009" "NCIt:C2289" "MeSH:D012739" - "OMIMPS:203655" "PMID:29875488" "ICD10:R19" "ICD10:Q45" @@ -148508,12 +148508,12 @@ "NCIT:C116812" "SCTID:70572005" "UMLS:C0153252" - "PMID:21586637" "GARD:19556" "MedDRA:10061080" "Orphanet:98724" "MEDGEN:798768" "UMLS:C0948632" + "PMID:21586637" "icd11.foundation:443229384" "ICD9:335.19" "Orphanet:83420" @@ -148608,8 +148608,8 @@ "MEDGEN:1794254" "OMIM:619661" "UMLS:C5562044" - "CLO:0013998" "RRID:CVCL_V272" + "CLO:0013998" "PMID:35347128" "Orphanet:168583" "GARD:17037" @@ -148745,7 +148745,6 @@ "galen:Excretion" "FMA:9674" "AEO:0000184" - "Patent:US4127580" "SNOMEDCT:386950000" "Patent:DE2404308" "DrugBank:DB00208" @@ -148763,6 +148762,7 @@ "Reaxys:1216802" "Wikipedia:Ticlopidine" "LINCS:LSM-1986" + "Patent:US4127580" "UMLS:C4305324" "SCTID:718633009" "Orphanet:281127" @@ -148785,9 +148785,9 @@ "DOID:14041" "MESH:D014383" "UMLS:C0041310" - "MeSH:D014383" "MONDO:0006743" "MEDGEN:52884" + "MeSH:D014383" "TAO:0005253" "ZFA:0005253" "FMA:74272" @@ -149189,11 +149189,11 @@ "MEDGEN:1843078" "ICD10CM:E70.3" "Orphanet:284811" - "SNOMEDCT:438106009" "UMLS:C3806644" "UMLS:C1866863" "UMLS:C1836451" "HP:0008944" + "SNOMEDCT:438106009" "OMIM:613643" "MEDGEN:462249" "UMLS:C3150899" @@ -150006,16 +150006,16 @@ "DOID:4397" "RRID:CVCL_A2IR" "PMID:28421636" - "UMLS:C0267918" - "MEDGEN:82765" - "SCTID:71912000" - "NCIT:C35335" - "DOID:9439" "MEDGEN:767508" "Orphanet:438117" "UMLS:C3554594" "GARD:17735" "OMIM:615155" + "UMLS:C0267918" + "MEDGEN:82765" + "SCTID:71912000" + "NCIT:C35335" + "DOID:9439" "SNOMEDCT:443831000124100" "DOID:0110202" "GARD:12437" @@ -150164,8 +150164,8 @@ "CAS:58-39-9" "KEGG COMPOUND:58-39-9" "Beilstein:54730" - "NIST Chemistry WebBook:58-39-9" "KEGG COMPOUND:C07427" + "NIST Chemistry WebBook:58-39-9" "Reaxys:54730" "KEGG:D00503" "PMID:26660173" @@ -150292,7 +150292,6 @@ "Orphanet:217046" "UMLS:C3808107" "MESH:C566955" - "HMDB:0002250" "UMLS:C0242292" "MEDGEN:69164" "NORD:1413" @@ -150305,6 +150304,7 @@ "MESH:D005359" "DOID:1858" "Orphanet:562" + "HMDB:0002250" "MedDRA:10063526" "MONDO:0001252" "SCTID:57777000" @@ -150362,7 +150362,6 @@ "UMLS:C0008523" "MEDGEN:3059" "NCIT:C2949" - "PMID:32641083" "SCTID:71908006" "NANDO:2200227" "MeSH:D014693" @@ -150377,6 +150376,7 @@ "UMLS:C0042510" "NCIt:C50799" "MEDGEN:21844" + "PMID:32641083" "UMLS:C0000737" "NCIt:C26682" "MEDDRA:10000081" @@ -150586,7 +150586,6 @@ "ZFA:0000822" "PubChem:496" "KEGG COMPOUND:C01029" - "NCIt:C39945" "UMLS:C4746631" "GARD:3324" "MedDRA:10027138" @@ -150597,6 +150596,7 @@ "SCTID:230325003" "DOID:0070213" "OMIM:153200" + "NCIt:C39945" "PMID:34503513" "NCIt:C86294" "SNOMEDCT:41468005" @@ -150648,13 +150648,13 @@ "UMLS:C4510044" "MEDGEN:1389497" "Orphanet:66633" - "NCIT:C122690" "DOID:8170" "UMLS:C0345903" "SCTID:195469007" "MEDGEN:87519" "MONDO:0006549" "NCIT:C4435" + "NCIT:C122690" "OMIM:601560" "SCTID:768935003" "Orphanet:166016" @@ -150825,6 +150825,7 @@ "MeSH:C537558" "ICD10:Q78.0" "PMID:27111506" + "Patent:US3644355" "CAS:27314-13-2" "Patent:BE712832" "PPDB:486" @@ -150835,7 +150836,6 @@ "PDBeChem:NRF" "PMID:16659463" "PMID:26735720" - "Patent:US3644355" "PMID:32393786" "PMID:35347128" "UMLS:C4022906" @@ -151689,10 +151689,10 @@ "UMLS:C0029454" "SNOMEDCT_US:1926006" "SNOMEDCT_US:367489004" - "OMIM:126550" - "ICD10:M85.8" "MeSH:D056830" "PMID:29875488" + "OMIM:126550" + "ICD10:M85.8" "PMID:24816252" "UMLS:C5568766" "Orphanet:528084" @@ -152080,8 +152080,8 @@ "TAO:0000279" "UMLS:C0227518" "Wikipedia:Lobules_of_liver" - "SCTID:362194004" "NCIT:C32732" + "SCTID:362194004" "MA:0002494" "EMAPA:35499" "FMA:14471" @@ -152370,14 +152370,6 @@ "PMID:28240269" "UMLS:C0553681" "SNOMEDCT_US:234457009" - "SCTID:126865007" - "EFO:1001100" - "MESH:D010534" - "MONDO:0006901" - "NCIT:C3322" - "UMLS:C0031149" - "MedDRA:10061344" - "MEDGEN:18392" "NANDO:1200110" "Orphanet:583" "MEDGEN:44514" @@ -152394,6 +152386,14 @@ "DOID:12800" "GARD:7095" "MESH:D009087" + "SCTID:126865007" + "EFO:1001100" + "MESH:D010534" + "MONDO:0006901" + "NCIT:C3322" + "UMLS:C0031149" + "MedDRA:10061344" + "MEDGEN:18392" "OMIM:252920" "ICD10:E76.2" "OMIM:614299" @@ -153027,7 +153027,6 @@ "DOID:0111235" "GARD:15927" "NIFSTD:birnlex_152" - "PMID:23823483" "ICD9:121.8" "MESH:D004011" "MedDRA:10080485" @@ -153037,6 +153036,7 @@ "SCTID:105668007" "UMLS:C0012102" "DOID:1219" + "PMID:23823483" "FMA:58634" "NCIt:C12760" "MeSH:D009898" @@ -153077,7 +153077,6 @@ "KEGG:C01042" "PMID:14645985" "Orphanet:295053" - "ICD10:Q87.0" "SCTID:33559001" "MEDGEN:78783" "MESH:D056731" @@ -153090,13 +153089,11 @@ "OMIM:262190" "MedDRA:10055608" "MeSH:D006450" - "ICD10:D81.2" - "OMIM:608971" + "ICD10:Q87.0" "SNOMEDCT:123973009" "MeSH:D009011" "ICD10:S52.27" "PMID:29875488" - "MedDRA:10044055" "DOID:0111956" "UMLS:C4014863" "Orphanet:319581" @@ -153106,7 +153103,10 @@ "Orphanet:488613" "MEDGEN:1798905" "UMLS:C5567482" + "ICD10:D81.2" + "OMIM:608971" "NCIT:C131504" + "MedDRA:10044055" "UMLS:C3150901" "SCTID:763367009" "GARD:17378" @@ -153781,6 +153781,7 @@ "UMLS:C5436637" "MEDGEN:1759445" "Orphanet:631076" + "PMID:29875488" "PMID:21357296" "PMID:18544347" "PMID:6056488" @@ -153791,7 +153792,6 @@ "KNApSAcK:C00002267" "KEGG:C10826" "CAS:77-59-8" - "PMID:29875488" "SCTID:763839005" "UMLS:C4016054" "Orphanet:284979" @@ -153861,8 +153861,8 @@ "MEDGEN:102309" "ICD9:233.5" "NCIT:C27790" - "https://pubchem.ncbi.nlm.nih.gov/compound/122198213" "PMID:35347128" + "https://pubchem.ncbi.nlm.nih.gov/compound/122198213" "PMID:33634981" "CAS:754920-02-0" "MEDGEN:87438" @@ -153922,11 +153922,11 @@ "Orphanet:1521" "SCTID:720757001" "GARD:428" + "PMID:28240269" "NCIT:C6246" "DOID:3258" "UMLS:C1335127" "MEDGEN:233267" - "PMID:28240269" "PMID:35347128" "PMID:35668104" "MESH:C535454" @@ -154139,6 +154139,7 @@ "OMIM:610140" "PMID:24816252" "Orphanet:295132" + "PMID:35347128" "PMID:28240269" "OMIM:618218" "GARD:17962" @@ -154149,7 +154150,6 @@ "MEDGEN:1668955" "UMLS:C4749824" "GARD:17153" - "PMID:35347128" "MEDGEN:481454" "Orphanet:183675" "OMIM:614102" @@ -154299,8 +154299,8 @@ "DOID:13081" "MEDGEN:146343" "http://www.uphs.upenn.edu/surgery/clinical/Plastic/hemangioma.html" - "EFO:1000707" "SCTID:93473009" + "EFO:1000707" "NCIT:C8540" "MONDO:0006557" "MeSH:D008382" @@ -154799,11 +154799,11 @@ "MeSH:C537185" "RRID:CVCL_1183" "CLO:0002842" + "Orphanet:431329" + "OMIM:615658" "RRID:CVCL_0076" "CLO:0009095" "BTO:0004987" - "Orphanet:431329" - "OMIM:615658" "ICD10:Q74.0" "OMIM:603147" "ICD10:E77.8" @@ -154815,16 +154815,16 @@ "Orphanet:98565" "GARD:19499" "PMID:29875488" + "PMID:37164013" "DOID:11669" "UMLS:C0155213" "ICD9:374.54" "SCTID:79830009" "MEDGEN:509853" - "PMID:37164013" + "PMID:23823483" "CLO:0009853" "BTO:0004620" "RRID:CVCL_1844" - "PMID:23823483" "UMLS:C0234376" "UMLS:C4020856" "SNOMEDCT_US:30721006" @@ -155146,8 +155146,6 @@ "SNOMEDCT:53413005" "UMLS:C0264906" "SNOMEDCT_US:195042002" - "OMIM:130020" - "ICD10:Q79.6" "NANDO:2200178" "DOID:5200" "MONDO:0003330" @@ -155161,6 +155159,8 @@ "ICD9:599.6" "MEDGEN:64247" "ICD9:599.60" + "OMIM:130020" + "ICD10:Q79.6" "OMIM:601553" "UMLS:C1832162" "ICD10:Q84.0" @@ -155872,8 +155872,6 @@ "PMID:33634981" "PubChem:150929" "CAS:51267-44-8" - "PMID:33441150" - "Wikipedia:Calcitriol" "MetaCyc:CPD-15252" "PMID:22917079" "PMID:22391806" @@ -155892,6 +155890,8 @@ "PMID:23450347" "PMID:22160928" "PMID:22076633" + "PMID:33441150" + "Wikipedia:Calcitriol" "UMLS:C1851996" "MedDRA:10081775" "OMIM:612921" @@ -156342,9 +156342,9 @@ "NCIT:C94379" "ICD10WHO:F22.0" "DOID:778" - "Orphanet:99878" "UMLS:C4025655" "ICD10:R82" + "Orphanet:99878" "icd11.foundation:1211141166" "MEDGEN:8633" "ICD9:360.19" @@ -156509,14 +156509,14 @@ "SCTID:766708008" "GARD:19579" "MEDGEN:1640451" + "UMLS:CN227073" + "Orphanet:268322" "UMLS:C1518729" "MEDGEN:309514" "NCIT:C40031" "DOID:5474" "MONDO:0006340" "EFO:1000428" - "UMLS:CN227073" - "Orphanet:268322" "ICD10:Q87.1" "ICD9:363.22" "NORD:1829" @@ -156529,10 +156529,10 @@ "MESH:D014607" "NCIT:C85218" "DOID:12297" - "PMID:37596262" "ICD10:E72.2" "MedDRA:10058297" "OMIM:237300" + "PMID:37596262" "PMID:32641083" "UMLS:C0019572" "SNOMEDCT_US:399939002" @@ -156674,14 +156674,14 @@ "DOID:2855" "OMIM:615999" "PMID:29875488" - "UMLS:C1333118" - "MEDGEN:234165" - "NCIT:C5675" "CAS:10066-90-7" "Reaxys:3331457" "PMID:12831506" "Beilstein:6457132" "PMID:24401842" + "UMLS:C1333118" + "MEDGEN:234165" + "NCIT:C5675" "UMLS:C2931676" "OMIM:239840" "MONDO:0006128" @@ -156834,6 +156834,7 @@ "MEDGEN:462793" "UMLS:C3151443" "NCIt:C61154" + "PMID:29237677" "NCIT:C4286" "MEDGEN:1652407" "DOID:5563" @@ -156841,7 +156842,6 @@ "NCIT:C4287" "NCIT:C8884" "OMIM:620501" - "PMID:29237677" "ICD10:E70.1" "OMIM:261640" "OMIM:264070" @@ -157148,12 +157148,12 @@ "UMLS:CN202613" "ICD10:Q87.3" "Orphanet:276280" + "PMID:25917933" "MEDGEN:61646" "ICD9:239.2" "SCTID:254831005" "UMLS:C0206631" "NCIT:C4248" - "PMID:25917933" "PMID:35347128" "Orphanet:98566" "GARD:19500" @@ -157178,13 +157178,13 @@ "PMID:29875488" "ICD10:Q79.6" "OMIM:130050" - "PMID:28240269" "UMLS:C4302824" "Orphanet:2773" "MEDGEN:928493" "MESH:C535617" "SCTID:722110003" "GARD:587" + "PMID:28240269" "SNOMEDCT_US:4754008" "UMLS:C0018418" "GARD:17537" @@ -157339,8 +157339,8 @@ "KEGG:C02537" "Chemspider:61840" "CAS:57-91-0" - "PMID:15947006" "HMDB:HMDB0000429" + "PMID:15947006" "PMID:20451236" "MetaCyc:CPD-351" "KEGG:D07121" @@ -157462,8 +157462,9 @@ "GARD:18430" "OMIM:616069" "UMLS:C4015130" - "PMID:31530798" "ICD10:Q93.5" + "PMID:31530798" + "PMID:35995766" "Orphanet:3355" "MESH:C564760" "SCTID:766813000" @@ -157471,13 +157472,12 @@ "MEDGEN:481087" "GARD:5267" "OMIM:275450" - "PMID:35995766" "NCIt:C12427" "OMIM:161000" "ICD10:Q82.4" "PMID:29875488" - "PMID:28369058" "PMID:28240269" + "PMID:28369058" "NCIT:C6389" "DOID:3445" "MEDGEN:235088" @@ -157546,7 +157546,6 @@ "MEDGEN:90996" "OMIM:236795" "UMLS:C0342737" - "PMID:35347128" "UMLS:C0280856" "DOID:2101" "Orphanet:494448" @@ -157557,6 +157556,7 @@ "SCTID:254895003" "icd11.foundation:146824338" "EFO:1000624" + "PMID:35347128" "OMIM:617757" "OMIM:617622" "OMIM:610688" @@ -158026,15 +158026,15 @@ "GARD:0007236" "SNOMEDCT:19464000" "NCIt:C86199" - "PMID:37164013" - "PMID:29875488" "MEDGEN:234123" "DOID:6386" "NCIT:C6216" "UMLS:C1332950" + "PMID:37164013" "UMLS:C0262444" "SNOMEDCT_US:422775003" "UMLS:C0040427" + "PMID:29875488" "DOID:0070249" "MESH:C567831" "MEDGEN:414476" @@ -158222,6 +158222,11 @@ "MEDGEN:1651269" "Orphanet:276280" "UMLS:C4749904" + "PMID:36451823" + "Orphanet:352530" + "GARD:21521" + "UMLS:C4706414" + "MEDGEN:1644787" "ICD9:093.1" "MeSH:D013589" "SNOMEDCT:20735004" @@ -158233,11 +158238,6 @@ "ICD10:A52.02" "MONDO:0006992" "UMLS:C0003511" - "PMID:36451823" - "Orphanet:352530" - "GARD:21521" - "UMLS:C4706414" - "MEDGEN:1644787" "UMLS:C0151798" "SNOMEDCT_US:87248009" "Wikipedia:Vitamin_D" @@ -158877,15 +158877,15 @@ "DOID:0050436" "UMLS:C0524582" "ICD9:759.89" - "PMID:29875488" - "NCIt:C26938" - "MedDRA:10016667" "Reaxys:10227786" + "PMID:29875488" "UMLS:C0686615" "SCTID:92408009" "MEDGEN:146355" "NCIT:C4902" "ICD9:211.9" + "NCIt:C26938" + "MedDRA:10016667" "MedDRA:10033266" "MEDGEN:38966" "DOID:5425" @@ -159284,13 +159284,13 @@ "MEDGEN:120571" "SCTID:32659003" "Orphanet:295209" + "PMID:28240269" "DOID:4706" "UMLS:C0751593" "MESH:D015192" "NCIT:C3139" "MEDGEN:199689" "NCIT:C4966" - "PMID:28240269" "PMID:35347128" "OMIM:226730" "DOID:0060733" @@ -159393,14 +159393,14 @@ "GARD:18922" "MEDGEN:1393821" "Orphanet:73245" - "NCIT:C3028" - "MEDGEN:4547" - "SCTID:126817006" - "UMLS:C0014859" "GARD:21601" "Orphanet:371024" "UMLS:C2936406" "MEDGEN:423526" + "NCIT:C3028" + "MEDGEN:4547" + "SCTID:126817006" + "UMLS:C0014859" "PMID:1502708" "DrugBank:DB00586" "KEGG:D00904" @@ -159455,6 +159455,7 @@ "ICD10CM:E78.5" "PMID:37164013" "PMID:26068415" + "PMID:35347128" "MAT:0000282" "FMA:7208" "SAEL:53" @@ -159463,7 +159464,6 @@ "BTO:0000620" "MA:0000339" "XAO:0000237" - "PMID:35347128" "UMLS:C0012517" "NORD:705" "DOID:14422" @@ -159621,13 +159621,13 @@ "UMLS:C5829571" "MEDGEN:1840207" "OMIM:301108" - "PMID:29875488" "PMID:24816252" "MEDGEN:422476" "UMLS:C2939420" "ICDO:8000/6" "MONDO:0024883" "NCIT:C3261" + "PMID:29875488" "PMID:27376770" "HP:0011419" "ICD9:641.20" @@ -159856,13 +159856,13 @@ "ICD9:756.9" "Orphanet:56304" "ICD10CM:Q77.5" + "UMLS:C0016663" + "SNOMEDCT_US:268029009" + "SNOMEDCT_US:22640007" "MeSH:C535380" "ICD10:Q12.1" "OMIM:301830" "UMLS:C1844934" - "UMLS:C0016663" - "SNOMEDCT_US:268029009" - "SNOMEDCT_US:22640007" "MEDGEN:107937" "SCTID:307219002" "NCIT:C4832" @@ -160460,7 +160460,6 @@ "UMLS:C2932679" "GARD:10693" "MESH:C548034" - "PMID:29875488" "MESH:C565686" "MEDGEN:341812" "OMIM:216800" @@ -160468,6 +160467,7 @@ "Orphanet:91494" "GARD:16802" "SCTID:722463001" + "PMID:29875488" "NCIt:C86267" "MeSH:D041041" "SNOMEDCT:114264004" @@ -160805,6 +160805,7 @@ "NCIt:C67311" "PMID:37596262" "PMID:32641083" + "PMID:24816252" "SCTID:726707004" "DECIPHER:43" "MEDGEN:347562" @@ -160814,15 +160815,14 @@ "Orphanet:96121" "MESH:C565723" "OMIM:609757" - "PMID:24816252" "MA:0003165" "SCTID:181746004" "BTO:0005281" "MESH:D007366" "Wikipedia:Intercostal_muscle" "FMA:13354" - "EFO:0001368" "UMLS:C0021724" + "EFO:0001368" "VHOG:0000903" "EMAPA:18521" "GAID:159"