diff --git a/ExFactor Ontology release notes.txt b/ExFactor Ontology release notes.txt
index 5d526acd..6d846016 100644
--- a/ExFactor Ontology release notes.txt
+++ b/ExFactor Ontology release notes.txt
@@ -11,17 +11,17 @@
\/__/ \/__/ \/__/
EFO - Release Notes
-Experimental Factor Ontology version 3.68.0
-Date Released: 15th July 2024
-Class Count: 55,318
+Experimental Factor Ontology version 3.69.0
+Date Released: 15th August 2024
+Class Count: 55,425
Summary:
-EFO 3.68.0 includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog.
+EFO 3.69.0 includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog.
-Number of classes changed: 404
-Number of classes added: 3
-Number of classes deleted: 2
+Number of classes changed: 33
+Number of classes added: 106
+Number of classes deleted: 0
----------------------------------
1. Changes to URIs
@@ -37,19 +37,450 @@ Number of classes deleted: 2
@Classes new to this version
-Class: http://purl.obolibrary.org/obo/MONDO_1011828
-Label(s): cancer, non-human animal
-+ 'cancer, non-human animal' SubClassOf 'neoplasm, non-human animal'
+Class: http://purl.obolibrary.org/obo/MONDO_0007617
+Label(s): Coffin-Siris syndrome 1
++ 'Coffin-Siris syndrome 1' SubClassOf 'autosomal dominant disease'
++ 'Coffin-Siris syndrome 1' SubClassOf 'Coffin-Siris syndrome'
++ 'Coffin-Siris syndrome 1' SubClassOf 'BAFopathy'
-Class: http://purl.obolibrary.org/obo/MONDO_0018184
-Label(s): gastric linitis plastica
-+ 'gastric linitis plastica' SubClassOf 'disease has location' some 'wall of stomach'
-+ 'gastric linitis plastica' SubClassOf 'cancer-related condition'
-+ 'gastric linitis plastica' SubClassOf 'diffuse gastric adenocarcinoma'
+Class: http://purl.obolibrary.org/obo/MONDO_0859262
+Label(s): ACCES syndrome
++ 'ACCES syndrome' SubClassOf 'genetic disorder'
-Class: http://purl.obolibrary.org/obo/MONDO_1030002
-Label(s): dysplasia of the proximal femoral epiphyses
-+ 'dysplasia of the proximal femoral epiphyses' SubClassOf 'type 2 collagenopathy'
+Class: http://purl.obolibrary.org/obo/MONDO_0859292
+Label(s): developmental delay, behavioral abnormalities, and neuropsychiatric disorders
++ 'developmental delay, behavioral abnormalities, and neuropsychiatric disorders' SubClassOf 'genetic disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0007335
+Label(s): orofacial cleft 1
++ 'orofacial cleft 1' SubClassOf 'orofacial cleft'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0958071
+Label(s): Hao-Fountain syndrome due to USP7 mutation
++ 'Hao-Fountain syndrome due to USP7 mutation' SubClassOf 'Mendelian neurodevelopmental disorder'
++ 'Hao-Fountain syndrome due to USP7 mutation' SubClassOf 'Hao-Fountain syndrome'
+
+Class: http://purl.obolibrary.org/obo/HP_0025569
+Label(s): Polypoidal choroidal vasculopathy
++ 'Polypoidal choroidal vasculopathy' SubClassOf 'Abnormal choroid morphology'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0958204
+Label(s): intellectual developmental disorder, autosomal recessive 81
++ 'intellectual developmental disorder, autosomal recessive 81' SubClassOf 'autosomal recessive non-syndromic intellectual disability'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0957811
+Label(s): Alport syndrome 3b, autosomal recessive
++ 'Alport syndrome 3b, autosomal recessive' SubClassOf 'Alport syndrome'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0968947
+Label(s): neurodevelopmental disorder plus optic atrophy
++ 'neurodevelopmental disorder plus optic atrophy' SubClassOf 'Mendelian neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859230
+Label(s): Kury-Isidor syndrome
++ 'Kury-Isidor syndrome' SubClassOf 'genetic disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859257
+Label(s): intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
++ 'intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism' SubClassOf 'genetic disorder'
+
+Class: http://purl.obolibrary.org/obo/HP_0002197
+Label(s): Generalized-onset seizure
++ 'Generalized-onset seizure' SubClassOf 'Seizure'
+
+Class: http://purl.obolibrary.org/obo/HP_0002151
+Label(s): Increased circulating lactate concentration
++ 'Increased circulating lactate concentration' SubClassOf 'Acidosis'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859332
+Label(s): cortical dysplasia, complex, with other brain malformations 11
++ 'cortical dysplasia, complex, with other brain malformations 11' SubClassOf 'complex cortical dysplasia with other brain malformations'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0803692
+Label(s): anti-hepatitis B virus antibody measurement
++ 'anti-hepatitis B virus antibody measurement' SubClassOf 'antibody measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0803691
+Label(s): anti-TSST-1 antibody measurement
++ 'anti-TSST-1 antibody measurement' SubClassOf 'antibody measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0803690
+Label(s): anti-hepatitis E virus antibody measurement
++ 'anti-hepatitis E virus antibody measurement' SubClassOf 'antibody measurement'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0957577
+Label(s): variegate porphyria, childhood-onset
++ 'variegate porphyria, childhood-onset' SubClassOf 'variegate porphyria'
+
+Class: http://purl.obolibrary.org/obo/HP_0002060
+Label(s): Abnormal cerebral morphology
++ 'Abnormal cerebral morphology' SubClassOf 'Abnormal brain morphology'
+
+Class: http://purl.obolibrary.org/obo/HP_0000105
+Label(s): Enlarged kidney
++ 'Enlarged kidney' SubClassOf 'Abnormal renal morphology'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0957397
+Label(s): intellectual developmental disorder, autosomal dominant 72
++ 'intellectual developmental disorder, autosomal dominant 72' SubClassOf 'intellectual disability, autosomal dominant'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0957317
+Label(s): hematuria, benign familial
++ 'hematuria, benign familial' SubClassOf 'genetic disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0700271
+Label(s): CHEK2-related cancer predisposition
++ 'CHEK2-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0957284
+Label(s): nemaline myopathy 5C, autosomal dominant
++ 'nemaline myopathy 5C, autosomal dominant' SubClassOf 'nemaline myopathy'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0957278
+Label(s): oocyte/zygote/embryo maturation arrest 20
++ 'oocyte/zygote/embryo maturation arrest 20' SubClassOf 'inherited oocyte maturation defect'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0957273
+Label(s): Charcot-Marie-Tooth disease, dominant intermediate A
++ 'Charcot-Marie-Tooth disease, dominant intermediate A' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0957266
+Label(s): RECON progeroid syndrome
++ 'RECON progeroid syndrome' SubClassOf 'genetic disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0957215
+Label(s): congenital myopathy 20
++ 'congenital myopathy 20' SubClassOf 'congenital myopathy'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0957196
+Label(s): diffuse midline glioma, H3 K27M-mutant
++ 'diffuse midline glioma, H3 K27M-mutant' SubClassOf 'diffuse intrinsic pontine glioma'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0009681
+Label(s): Ullrich congenital muscular dystrophy 1A
++ 'Ullrich congenital muscular dystrophy 1A' SubClassOf 'collagen 6-related myopathy'
++ 'Ullrich congenital muscular dystrophy 1A' SubClassOf 'Ullrich congenital muscular dystrophy'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0030731
+Label(s): aortic aneurysm, familial thoracic 12
++ 'aortic aneurysm, familial thoracic 12' SubClassOf 'familial thoracic aortic aneurysm and aortic dissection'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0700248
+Label(s): epidermolytic hyperkeratosis 2A, autosomal dominant
++ 'epidermolytic hyperkeratosis 2A, autosomal dominant' SubClassOf 'autosomal dominant epidermolytic ichthyosis'
++ 'epidermolytic hyperkeratosis 2A, autosomal dominant' SubClassOf 'epidermolytic hyperkeratosis 2'
+
+Class: http://purl.obolibrary.org/obo/HP_0004935
+Label(s): Pulmonary artery atresia
++ 'Pulmonary artery atresia' SubClassOf 'Abnormal lung morphology'
++ 'Pulmonary artery atresia' SubClassOf 'Abnormal cardiovascular system morphology'
++ 'Pulmonary artery atresia' SubClassOf 'Abnormality of the vasculature'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0009136
+Label(s): dyskeratosis congenita, autosomal recessive 1
++ 'dyskeratosis congenita, autosomal recessive 1' SubClassOf 'dyskeratosis congenita'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0007709
+Label(s): hematuria, benign familial, 1
++ 'hematuria, benign familial, 1' SubClassOf 'hematuria, benign familial'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0957252
+Label(s): ciliary dyskinesia, primary, 50
++ 'ciliary dyskinesia, primary, 50' SubClassOf 'primary ciliary dyskinesia'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0100465
+Label(s): complex neurodevelopmental disorder with or without congenital anomalies
++ 'complex neurodevelopmental disorder with or without congenital anomalies' SubClassOf 'complex neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859168
+Label(s): myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
++ 'myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy' SubClassOf 'myofibrillar myopathy'
+
+Class: http://purl.obolibrary.org/obo/HP_0032025
+Label(s): Reduced circulating alpha-1-antitrypsin concentration
++ 'Reduced circulating alpha-1-antitrypsin concentration' SubClassOf 'Abnormality of metabolism/homeostasis'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0958323
+Label(s): neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
++ 'neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0956989
+Label(s): CIC-rearranged sarcoma
++ 'CIC-rearranged sarcoma' SubClassOf 'EWSR1-negative small round cell tumor'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0858921
+Label(s): EWSR1-negative small round cell tumor
++ 'EWSR1-negative small round cell tumor' SubClassOf 'small cell sarcoma'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859212
+Label(s): neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
++ 'neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0030674
+Label(s): Teebi hypertelorism syndrome 2
++ 'Teebi hypertelorism syndrome 2' SubClassOf 'Teebi hypertelorism syndrome'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0958332
+Label(s): neuromuscular disorder, congenital, with dysmorphic facies
++ 'neuromuscular disorder, congenital, with dysmorphic facies' SubClassOf 'hereditary neuromuscular disease'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0013821
+Label(s): intellectual disability, autosomal dominant 16
++ 'intellectual disability, autosomal dominant 16' SubClassOf 'autosomal dominant disease'
++ 'intellectual disability, autosomal dominant 16' SubClassOf 'Coffin-Siris syndrome'
++ 'intellectual disability, autosomal dominant 16' SubClassOf 'BAFopathy'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0013819
+Label(s): intellectual disability, autosomal dominant 14
++ 'intellectual disability, autosomal dominant 14' SubClassOf 'Coffin-Siris syndrome'
++ 'intellectual disability, autosomal dominant 14' SubClassOf 'BAFopathy'
++ 'intellectual disability, autosomal dominant 14' SubClassOf 'autosomal dominant disease'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0022842
+Label(s): mosaic loss of chromosome X measurement
++ 'mosaic loss of chromosome X measurement' SubClassOf 'genomic measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0022841
+Label(s): Illumina NovaSeq X Plus
++ 'Illumina NovaSeq X Plus' SubClassOf 'high throughput sequencer'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0022840
+Label(s): Illumina NovaSeq X
++ 'Illumina NovaSeq X' SubClassOf 'high throughput sequencer'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0022837
+Label(s): congenital indifference to pain
++ 'congenital indifference to pain' SubClassOf 'congenital nervous system disorder'
+
+Class: http://purl.obolibrary.org/obo/HP_0003233
+Label(s): Decreased HDL cholesterol concentration
++ 'Decreased HDL cholesterol concentration' SubClassOf 'Abnormal circulating lipid concentration'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0008233
+Label(s): pheochromocytoma
++ 'pheochromocytoma' SubClassOf 'benign neoplasm of adrenal gland'
++ 'pheochromocytoma' SubClassOf 'hereditary pheochromocytoma-paraganglioma'
+
+Class: http://purl.obolibrary.org/obo/HP_0009589
+Label(s): Bilateral vestibular schwannoma
++ 'Bilateral vestibular schwannoma' SubClassOf 'Vestibular schwannoma'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0013266
+Label(s): intellectual disability, autosomal dominant 20
++ 'intellectual disability, autosomal dominant 20' SubClassOf 'autosomal dominant non-syndromic intellectual disability'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0013224
+Label(s): rhabdoid tumor predisposition syndrome 2
++ 'rhabdoid tumor predisposition syndrome 2' SubClassOf 'familial rhabdoid tumor'
++ 'rhabdoid tumor predisposition syndrome 2' SubClassOf 'hereditary neurological disease'
++ 'rhabdoid tumor predisposition syndrome 2' SubClassOf 'atypical teratoid rhabdoid tumor'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859260
+Label(s): Dworschak-Punetha neurodevelopmental syndrome
++ 'Dworschak-Punetha neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0023664
+Label(s): spermatogenic failure 54
++ 'spermatogenic failure 54' SubClassOf 'azoospermia'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859531
+Label(s): neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
++ 'neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859523
+Label(s): congenital myopathy 2c, severe infantile, autosomal dominant
++ 'congenital myopathy 2c, severe infantile, autosomal dominant' SubClassOf 'congenital myopathy'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859521
+Label(s): oocyte maturation defect 14
++ 'oocyte maturation defect 14' SubClassOf 'inherited oocyte maturation defect'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859516
+Label(s): neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
++ 'neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0021016
+Label(s): obsolete channelopathy
++ 'obsolete channelopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859339
+Label(s): tooth agenesis, selective, 10
++ 'tooth agenesis, selective, 10' SubClassOf 'tooth agenesis'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859333
+Label(s): intellectual developmental disorder, autosomal dominant 70
++ 'intellectual developmental disorder, autosomal dominant 70' SubClassOf 'SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth'
++ 'intellectual developmental disorder, autosomal dominant 70' SubClassOf 'intellectual disability, autosomal dominant'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859286
+Label(s): neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
++ 'neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0024530
+Label(s): Bethlem myopathy 1A
++ 'Bethlem myopathy 1A' SubClassOf 'collagen 6-related myopathy'
++ 'Bethlem myopathy 1A' SubClassOf 'Bethlem myopathy'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859243
+Label(s): neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
++ 'neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859235
+Label(s): auditory neuropathy, autosomal dominant 3
++ 'auditory neuropathy, autosomal dominant 3' SubClassOf 'auditory neuropathy'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859225
+Label(s): neurodevelopmental disorder with or without variable movement or behavioral abnormalities
++ 'neurodevelopmental disorder with or without variable movement or behavioral abnormalities' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859224
+Label(s): intellectual disability and myopathy syndrome
++ 'intellectual disability and myopathy syndrome' SubClassOf 'genetic disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859206
+Label(s): neurodevelopmental disorder with hearing loss and spasticity
++ 'neurodevelopmental disorder with hearing loss and spasticity' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859201
+Label(s): neurodevelopmental disorder with impaired language and ataxia and with or without seizures
++ 'neurodevelopmental disorder with impaired language and ataxia and with or without seizures' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0958329
+Label(s): Jeffries-Lakhani neurodevelopmental syndrome
++ 'Jeffries-Lakhani neurodevelopmental syndrome' SubClassOf 'Mendelian neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0958326
+Label(s): macular dystrophy with or without cone dysfunction
++ 'macular dystrophy with or without cone dysfunction' SubClassOf 'hereditary macular dystrophy'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0800447
+Label(s): bleeding disorder, platelet-type, 13, susceptibility to
++ 'bleeding disorder, platelet-type, 13, susceptibility to' SubClassOf 'inherited disease susceptibility'
++ 'bleeding disorder, platelet-type, 13, susceptibility to' SubClassOf 'predisposes towards' some 'bleeding diathesis due to thromboxane synthesis deficiency'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859193
+Label(s): neuroocular syndrome
++ 'neuroocular syndrome' SubClassOf 'hereditary neurological disease'
++ 'neuroocular syndrome' SubClassOf 'eye disease'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859186
+Label(s): Chopra-Amiel-Gordon syndrome
++ 'Chopra-Amiel-Gordon syndrome' SubClassOf 'genetic disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859179
+Label(s): neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
++ 'neurodevelopmental disorder with dysmorphic facies and thin corpus callosum' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859178
+Label(s): developmental delay, impaired speech, and behavioral abnormalities
++ 'developmental delay, impaired speech, and behavioral abnormalities' SubClassOf 'genetic disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859165
+Label(s): neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
++ 'neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0958185
+Label(s): mitochondrial trifunctional protein deficiency 2
++ 'mitochondrial trifunctional protein deficiency 2' SubClassOf 'mitochondrial trifunctional protein deficiency'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859148
+Label(s): neurodevelopmental disorder with seizures and gingival overgrowth
++ 'neurodevelopmental disorder with seizures and gingival overgrowth' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0968945
+Label(s): neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
++ 'neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder' SubClassOf 'Mendelian neurodevelopmental disorder'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0022836
+Label(s): osteogenesis imperfecta, recessive
++ 'osteogenesis imperfecta, recessive' SubClassOf 'osteogenesis imperfecta'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0022838
+Label(s): HUDEP-2
++ 'HUDEP-2' SubClassOf 'iPSC derived cell line'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0022839
+Label(s): STORM-seq
++ 'STORM-seq' SubClassOf 'RNA assay'
++ 'STORM-seq' SubClassOf 'Smart-like'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0958009
+Label(s): spastic ataxia 10, autosomal recessive
++ 'spastic ataxia 10, autosomal recessive' SubClassOf 'spastic ataxia'
+
+Class: http://purl.obolibrary.org/obo/HP_0040298
+Label(s): Hyperplasia of the endometrium
++ 'Hyperplasia of the endometrium' SubClassOf 'Abnormality of the uterus'
+
+Class: http://purl.obolibrary.org/obo/HP_0011163
+Label(s): Focal sensory seizure with somatosensory features
++ 'Focal sensory seizure with somatosensory features' SubClassOf 'Focal-onset seizure'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859232
+Label(s): neurodevelopmental disorder with central hypotonia and dysmorphic facies
++ 'neurodevelopmental disorder with central hypotonia and dysmorphic facies' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0030891
+Label(s): intellectual developmental disorder, autosomal dominant 66
++ 'intellectual developmental disorder, autosomal dominant 66' SubClassOf 'intellectual disability, autosomal dominant'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859082
+Label(s): thrombophilia, X-linked, due to factor 8 defect
++ 'thrombophilia, X-linked, due to factor 8 defect' SubClassOf 'inherited thrombophilia'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0030770
+Label(s): congenital disorder of deglycosylation 2
++ 'congenital disorder of deglycosylation 2' SubClassOf 'congenital disorder of deglycosylation'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0859152
+Label(s): neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
++ 'neurodevelopmental disorder with cerebellar atrophy and motor dysfunction' SubClassOf 'Neurodevelopmental disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0030463
+Label(s): spermatogenic failure 58
++ 'spermatogenic failure 58' SubClassOf 'azoospermia'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0030455
+Label(s): dystonia 31
++ 'dystonia 31' SubClassOf 'inherited dystonia'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0030453
+Label(s): developmental and epileptic encephalopathy 97
++ 'developmental and epileptic encephalopathy 97' SubClassOf 'developmental and epileptic encephalopathy'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0030438
+Label(s): pontocerebellar hypoplasia, type 16
++ 'pontocerebellar hypoplasia, type 16' SubClassOf 'pontocerebellar hypoplasia'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0800477
+Label(s): SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
++ 'SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth' SubClassOf 'hereditary neurological disease'
++ 'SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth' SubClassOf 'developmental disorder of mental health'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0100519
+Label(s): epilepsy, idiopathic generalized, susceptibility to, 17
++ 'epilepsy, idiopathic generalized, susceptibility to, 17' SubClassOf 'inherited disease susceptibility'
++ 'epilepsy, idiopathic generalized, susceptibility to, 17' SubClassOf 'predisposes towards' some 'generalised epilepsy'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0958237
+Label(s): isolated hyperferritinemia
++ 'isolated hyperferritinemia' SubClassOf 'genetic disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0030323
+Label(s): spinocerebellar ataxia, autosomal recessive 31
++ 'spinocerebellar ataxia, autosomal recessive 31' SubClassOf 'autosomal recessive cerebellar ataxia'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0030317
+Label(s): cardiomyopathy, familial hypertrophic, 28
++ 'cardiomyopathy, familial hypertrophic, 28' SubClassOf 'familial hypertrophic cardiomyopathy'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0030314
+Label(s): inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive
++ 'inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive' SubClassOf 'inflammatory bowel disease'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0958240
+Label(s): neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
++ 'neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities' SubClassOf 'Neurodevelopmental disorder'
----------------------------------
@@ -57,2198 +488,158 @@ Label(s): dysplasia of the proximal femoral epiphyses
@Classes modified from previous
-Class: http://purl.obolibrary.org/obo/MONDO_0012756
-Label(s): proximal 16p11.2 microdeletion syndrome
-- 'proximal 16p11.2 microdeletion syndrome' SubClassOf 'predisposes towards' some 'autism'
-+ 'proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012720
-Label(s): Krabbe disease due to saposin A deficiency
-- 'Krabbe disease due to saposin A deficiency' SubClassOf 'disease shares features of' some 'Krabbe disease'
-+ 'Krabbe disease due to saposin A deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Krabbe disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0002017
-Label(s): olivopontocerebellar atrophy
-- 'olivopontocerebellar atrophy' SubClassOf 'disease shares features of' some 'cerebellar ataxia'
-+ 'olivopontocerebellar atrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'cerebellar ataxia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012648
-Label(s): isobutyryl-CoA dehydrogenase deficiency
-- 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy'
-+ 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0019852
-Label(s): inherited primary ovarian failure
-+ 'inherited primary ovarian failure' SubClassOf 'female infertility'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0007573
-Label(s): erythroleukemia, familial, susceptibility to
-- 'erythroleukemia, familial, susceptibility to' SubClassOf 'predisposes towards' some 'acute erythroleukemia'
-+ 'erythroleukemia, familial, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute erythroleukemia'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006751
-Label(s): SIG-M5
-- 'SIG-M5' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012585
-Label(s): coronary heart disease, susceptibility to, 7
-- 'coronary heart disease, susceptibility to, 7' SubClassOf 'predisposes towards' some 'coronary artery disease'
-+ 'coronary heart disease, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012584
-Label(s): systemic lupus erythematosus, susceptibility to, 9
-- 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus'
-+ 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'systemic lupus erythematosus'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012570
-Label(s): body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
-- 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease shares features of' some 'pseudoxanthoma elasticum (inherited or acquired)'
-+ 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'pseudoxanthoma elasticum (inherited or acquired)'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0007495
-Label(s): dystonia 5
-- 'dystonia 5' SubClassOf 'disease responds to' some 'L-dopa'
-+ 'dystonia 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'L-dopa'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0007462
-Label(s): multiple sclerosis, susceptibility to
-- 'multiple sclerosis, susceptibility to' SubClassOf 'predisposes towards' some 'multiple sclerosis'
-- 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'multiple sclerosis')
-+ 'multiple sclerosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple sclerosis'
-+ 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple sclerosis')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0007401
-Label(s): craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
-- 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012488
-Label(s): hepatitis B virus, susceptibility to
-- 'hepatitis B virus, susceptibility to' SubClassOf 'predisposes towards' some 'genetic disorder'
-+ 'hepatitis B virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'genetic disorder'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012482
-Label(s): West Nile virus, susceptibility to
-- 'West Nile virus, susceptibility to' SubClassOf 'predisposes towards' some 'West Nile encephalitis'
-+ 'West Nile virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'West Nile encephalitis'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012466
-Label(s): Parkinson disease 13, autosomal dominant, susceptibility to
-- 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease'
-+ 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Parkinson disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012456
-Label(s): congenital primary aphakia
-- 'congenital primary aphakia' SubClassOf 'disease has major feature' some 'Congenital aphakia'
-+ 'congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Congenital aphakia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009335
-Label(s): hemolytic uremic syndrome, atypical, susceptibility to, 1
-- 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf 'predisposes towards' some 'atypical hemolytic-uremic syndrome'
-+ 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'atypical hemolytic-uremic syndrome'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012435
-Label(s): 3-methylglutaconic aciduria type 5
-- '3-methylglutaconic aciduria type 5' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy'
-+ '3-methylglutaconic aciduria type 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012407
-Label(s): pyridoxal phosphate-responsive seizures
-- 'pyridoxal phosphate-responsive seizures' SubClassOf 'disease responds to' some 'pyridoxal 5'-phosphate'
-- 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and ('disease responds to' some 'pyridoxal 5'-phosphate')
-+ 'pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'pyridoxal 5'-phosphate'
-+ 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'pyridoxal 5'-phosphate')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012402
-Label(s): opioid dependence, susceptibility to, 1
-- 'opioid dependence, susceptibility to, 1' SubClassOf 'predisposes towards' some 'opioid dependence'
-+ 'opioid dependence, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'opioid dependence'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0005722
-Label(s): SJCRH30
-+ 'SJCRH30' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('musculature' and ('part_of' some 'Homo sapiens'))))
-
-Class: http://www.ebi.ac.uk/efo/EFO_0005772
-Label(s): neurodegenerative disease
-- 'neurodegenerative disease' SubClassOf 'disease has major feature' some 'Cerebral degeneration'
-+ 'neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cerebral degeneration'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0017902
-Label(s): autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
-- 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease'
-+ 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'mycobacterial infectious disease'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0003778
-Label(s): psoriatic arthritis
-- 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and ('disease has major feature' some 'psoriasis')
-- 'psoriatic arthritis' SubClassOf 'disease has major feature' some 'psoriasis'
-+ 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'psoriasis')
-+ 'psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'psoriasis'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012192
-Label(s): permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
-- 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012161
-Label(s): susceptibility to respiratory infections associated with CD8alpha chain mutation
-- 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'predisposes towards' some 'respiratory tract infectious disorder'
-+ 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'respiratory tract infectious disorder'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012141
-Label(s): orofacial cleft 6, susceptibility to
-- 'orofacial cleft 6, susceptibility to' SubClassOf 'predisposes towards' some 'orofacial cleft'
-+ 'orofacial cleft 6, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'orofacial cleft'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0017746
-Label(s): atypical Rett syndrome
-- 'atypical Rett syndrome' SubClassOf 'disease shares features of' some 'Rett syndrome'
-+ 'atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Rett syndrome'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012057
-Label(s): legionnaire disease, susceptibility to
-- 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Legionnaires' disease')
-- 'legionnaire disease, susceptibility to' SubClassOf 'predisposes towards' some 'Legionnaires' disease'
-+ 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Legionnaires' disease')
-+ 'legionnaire disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Legionnaires' disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012009
-Label(s): coronary heart disease, susceptibility to, 2
-- 'coronary heart disease, susceptibility to, 2' SubClassOf 'predisposes towards' some 'coronary artery disease'
-+ 'coronary heart disease, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0017454
-Label(s): triphalangeal thumb-polysyndactyly syndrome
-- 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'disease has major feature' some 'polydactyly of a triphalangeal thumb'
-+ 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'polydactyly of a triphalangeal thumb'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002238
-Label(s): ML2
-- 'ML2' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0017389
-Label(s): tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
-- 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'disease responds to' some 'sapropterin'
-+ 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'sapropterin'
-
-Class: http://purl.obolibrary.org/obo/BTO_0003264
-Label(s): HL-1 cell
-- 'HL-1 cell' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-(('developmental stage' or 'organism part') and ('part_of' some 'Mus'))))
-- 'HL-1 cell' SubClassOf 'mouse cell line'
-+ 'HL-1 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://purl.obolibrary.org/obo/MONDO_0027766
-Label(s): generalized lipodystrophy
-- 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and ('disease has major feature' some 'Generalized lipodystrophy')
-- 'generalized lipodystrophy' SubClassOf 'disease has major feature' some 'Generalized lipodystrophy'
-+ 'generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Generalized lipodystrophy'
-+ 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Generalized lipodystrophy')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0017054
-Label(s): thiamine-responsive maple syrup urine disease
-- 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and ('disease responds to' some 'vitamin B1')
-- 'thiamine-responsive maple syrup urine disease' SubClassOf 'disease responds to' some 'vitamin B1'
-+ 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1')
-+ 'thiamine-responsive maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0008506
-Label(s): hyperparathyroidism
-- 'hyperparathyroidism' SubClassOf 'disease has major feature' some 'Hyperparathyroidism'
-+ 'hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperparathyroidism'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0000699
-Label(s): Sjogren syndrome
-- 'Sjogren syndrome' SubClassOf 'disease shares features of' some 'IgG4-related dacryoadenitis and sialadenitis'
-+ 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'IgG4-related dacryoadenitis and sialadenitis'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0017214
-Label(s): vitamin B12-responsive methylmalonic acidemia
-- 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and ('disease responds to' some 'cobalamin')
-- 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'disease responds to' some 'cobalamin'
-+ 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'cobalamin')
-+ 'vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'cobalamin'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009966
-Label(s): NPHP3-related Meckel-like syndrome
-- 'NPHP3-related Meckel-like syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009958
-Label(s): adult Refsum disease
-- 'adult Refsum disease' SubClassOf 'disease has major feature' some 'Leukoencephalopathy'
-+ 'adult Refsum disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Leukoencephalopathy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011685
-Label(s): polysubstance abuse, susceptibility to
-- 'polysubstance abuse, susceptibility to' SubClassOf 'predisposes towards' some 'drug dependence'
-+ 'polysubstance abuse, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'drug dependence'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0007839
-Label(s): Aase-Smith syndrome
-- 'Aase-Smith syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0022394
-Label(s): cervical intraepithelial neoplasia
-- 'cervical intraepithelial neoplasia' SubClassOf 'disease has major feature' some 'Cervical polyp'
-+ 'cervical intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cervical polyp'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0060627
-Label(s): glycosylphosphatidylinositol biosynthesis defect 15
-- 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_1030001
-Label(s): epilepsy, juvenile absence, susceptibility to
-- 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'juvenile absence epilepsy')
-- 'epilepsy, juvenile absence, susceptibility to' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy'
-+ 'epilepsy, juvenile absence, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile absence epilepsy'
-+ 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile absence epilepsy')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0700057
-Label(s): neurological pain disorder
-- 'neurological pain disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Pain')
-- 'neurological pain disorder' SubClassOf 'disease has major feature' some 'Pain'
-+ 'neurological pain disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain'
-+ 'neurological pain disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0700041
-Label(s): neuroblastoma, susceptibility to, 2
-- 'neuroblastoma, susceptibility to, 2' SubClassOf 'predisposes towards' some 'neuroblastoma'
-+ 'neuroblastoma, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0027353
-Label(s): autosomal recessive dyskeratosis congenita 4
-- 'autosomal recessive dyskeratosis congenita 4' SubClassOf 'disease shares features of' some 'dyskeratosis congenita, autosomal dominant 2'
-+ 'autosomal recessive dyskeratosis congenita 4' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'dyskeratosis congenita, autosomal dominant 2'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009830
-Label(s): parkinsonian-pyramidal syndrome
-- 'parkinsonian-pyramidal syndrome' SubClassOf 'predisposes towards' some 'young-onset Parkinson disease'
-+ 'parkinsonian-pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'young-onset Parkinson disease'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0000773
-Label(s): temporal lobe epilepsy
-+ 'temporal lobe epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0000712
-Label(s): stroke
-- 'stroke' SubClassOf 'disease has major feature' some 'Stroke'
-+ 'stroke' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Stroke'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0014809
-Label(s): DDX41-related hematologic malignancy predisposition syndrome
-- 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf 'predisposes towards' some 'Myelodysplastic/Myeloproliferative Neoplasm'
-+ 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Myelodysplastic/Myeloproliferative Neoplasm'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009741
-Label(s): neuroblastoma, susceptibility to, 1
-- 'neuroblastoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'neuroblastoma'
-+ 'neuroblastoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0000650
-Label(s): whooping cough
-- 'whooping cough' SubClassOf 'disease has major feature' some 'Whooping cough'
-+ 'whooping cough' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Whooping cough'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0014795
-Label(s): exercise intolerance, riboflavin-responsive
-- 'exercise intolerance, riboflavin-responsive' SubClassOf 'disease responds to' some 'riboflavin'
-+ 'exercise intolerance, riboflavin-responsive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'riboflavin'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0014787
-Label(s): severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
-- 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0014746
-Label(s): SLC39A8-CDG
-- 'SLC39A8-CDG' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0037858
-Label(s): inherited fatty acid metabolism disorder
-- 'inherited fatty acid metabolism disorder' SubClassOf 'inborn organic aciduria'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009618
-Label(s): microcephaly-cardiomyopathy syndrome
-- 'microcephaly-cardiomyopathy syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy'
-+ 'microcephaly-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0014601
-Label(s): autosomal recessive spinocerebellar ataxia 20
-- 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'autosomal recessive spinocerebellar ataxia 20' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0037748
-Label(s): hyperlipoproteinemia
-- 'hyperlipoproteinemia' SubClassOf 'disease has major feature' some 'Hyperlipoproteinemia'
-- 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Hyperlipoproteinemia')
-+ 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipoproteinemia')
-+ 'hyperlipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipoproteinemia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009500
-Label(s): kuru, susceptibility to
-- 'kuru, susceptibility to' SubClassOf 'predisposes towards' some 'kuru'
-+ 'kuru, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'kuru'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0014552
-Label(s): lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
-- 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0017901
-Label(s): autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
-- 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease'
-+ 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'mycobacterial infectious disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009499
-Label(s): Krabbe disease
-- 'Krabbe disease' SubClassOf 'disease has basis in accumulation of' some 'psychosine'
-+ 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_accumulation_of some 'psychosine'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009480
-Label(s): Joubert syndrome with oculorenal defect
-- 'Joubert syndrome with oculorenal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012308
-Label(s): Joubert syndrome with renal defect
-- 'Joubert syndrome with renal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012341
-Label(s): celiac disease, susceptibility to, 3
-- 'celiac disease, susceptibility to, 3' SubClassOf 'predisposes towards' some 'celiac disease'
-+ 'celiac disease, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'celiac disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009405
-Label(s): cervical hypertrichosis-peripheral neuropathy syndrome
-- 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0017571
-Label(s): Proteus-like syndrome
-- 'Proteus-like syndrome' SubClassOf 'disease shares features of' some 'Proteus syndrome'
-+ 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Proteus syndrome'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0000373
-Label(s): congestive heart failure
-- 'congestive heart failure' SubClassOf 'disease has major feature' some 'Congestive heart failure'
-+ 'congestive heart failure' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Congestive heart failure'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0014419
-Label(s): ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
-- 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0001941
-Label(s): blindness (disorder)
-- 'blindness (disorder)' SubClassOf 'disease has major feature' some 'Blindness'
-- 'blindness (disorder)' EquivalentTo 'vision disorder' and ('disease has major feature' some 'Blindness')
-+ 'blindness (disorder)' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Blindness'
-+ 'blindness (disorder)' EquivalentTo 'vision disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Blindness')
-
-Class: http://www.ebi.ac.uk/efo/EFO_0000206
-Label(s): stage II endometrioid carcinoma
-- 'stage II endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma'
-+ 'stage II endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease some 'endometrial carcinoma'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0000205
-Label(s): stage I endometrioid carcinoma
-- 'stage I endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma'
-+ 'stage I endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease some 'endometrial carcinoma'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0014241
-Label(s): leukemia, acute lymphoblastic, susceptibility to, 3
-- 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf 'predisposes towards' some 'acute lymphoblastic leukemia'
-+ 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute lymphoblastic leukemia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0014232
-Label(s): craniosynostosis 5, susceptibility to
-- 'craniosynostosis 5, susceptibility to' SubClassOf 'predisposes towards' some 'craniosynostosis'
-+ 'craniosynostosis 5, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'craniosynostosis'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0004951
-Label(s): susceptibility to HIV infection
-- 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'HIV infection')
-- 'susceptibility to HIV infection' SubClassOf 'predisposes towards' some 'HIV infection'
-+ 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'HIV infection')
-+ 'susceptibility to HIV infection' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'HIV infection'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0005730
-Label(s): endothelial cell derived cell line
-- 'endothelial cell derived cell line' SubClassOf 'epithelial cell derived cell line'
-+ 'endothelial cell derived cell line' SubClassOf 'cultured cell'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0005724
-Label(s): MM.1S
-- 'MM.1S' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012081
-Label(s): 15q11q13 microduplication syndrome
-- '15q11q13 microduplication syndrome' SubClassOf 'predisposes towards' some 'autism'
-+ '15q11q13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0014189
-Label(s): age related macular degeneration 13
-- 'age related macular degeneration 13' SubClassOf 'predisposes towards' some 'age-related macular degeneration'
-+ 'age related macular degeneration 13' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'age-related macular degeneration'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0005694
-Label(s): KMS-11
-- 'KMS-11' SubClassOf 'cultured cell'
-+ 'KMS-11' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0700101
-Label(s): carcinoma, non-human animal
-- 'carcinoma, non-human animal' SubClassOf 'neoplasm, non-human animal'
-+ 'carcinoma, non-human animal' SubClassOf http://purl.obolibrary.org/obo/MONDO_1011828
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009084
-Label(s): conductive deafness-ptosis-skeletal anomalies syndrome
-- 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf 'disease has major feature' some 'Conductive hearing impairment'
-+ 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Conductive hearing impairment'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009080
-Label(s): split hand-foot malformation 1 with sensorineural hearing loss
-- 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'disease has major feature' some 'Ectrodactyly'
-+ 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ectrodactyly'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009075
-Label(s): Dandy-Walker malformation-postaxial polydactyly syndrome
-- 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0009074
-Label(s): facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
-- 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0014038
-Label(s): colorectal cancer, susceptibility to, 12
-- 'colorectal cancer, susceptibility to, 12' SubClassOf 'predisposes towards' some 'colorectal cancer'
-+ 'colorectal cancer, susceptibility to, 12' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer'
-
-Class: http://purl.obolibrary.org/obo/BTO_0001205
-Label(s): RT4-D6P2T cell
-- 'RT4-D6P2T cell' SubClassOf 'rat cell line'
-- 'RT4-D6P2T cell' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-(('developmental stage' or 'organism part') and ('part_of' some 'Rattus'))))
-+ 'RT4-D6P2T cell' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://www.ebi.ac.uk/efo/EFO_0005458
-Label(s): SK-MM-2
-- 'SK-MM-2' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0957560
-Label(s): hearing loss, noise-induced, susceptibility to
-- 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'noise-induced hearing loss')
-- 'hearing loss, noise-induced, susceptibility to' SubClassOf 'predisposes towards' some 'noise-induced hearing loss'
-+ 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'noise-induced hearing loss')
-+ 'hearing loss, noise-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'noise-induced hearing loss'
-
-Class: http://purl.obolibrary.org/obo/BTO_0000007
-Label(s): HEK-293 cell
-- 'HEK-293 cell' SubClassOf 'kidney derived cell line'
-- 'HEK-293 cell' SubClassOf 'Homo sapiens cell line'
-- 'HEK-293 cell' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('kidney' and ('part_of' some 'organism'))))
-- 'HEK-293 cell' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-(('developmental stage' or 'organism part') and ('part_of' some 'Homo sapiens'))))
-+ 'HEK-293 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://www.ebi.ac.uk/efo/EFO_0003037
-Label(s): CMK
-- 'CMK' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0024512
-Label(s): spondyloarthropathy, susceptibility to
-- 'spondyloarthropathy, susceptibility to' SubClassOf 'predisposes towards' some 'spondyloarthropathy'
-- 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'spondyloarthropathy')
-+ 'spondyloarthropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'spondyloarthropathy'
-+ 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'spondyloarthropathy')
-
-Class: http://www.ebi.ac.uk/efo/EFO_0005395
-Label(s): MUTZ-3
-- 'MUTZ-3' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0005374
-Label(s): HCC227
-- 'HCC227' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('organism part' and ('part_of' some 'Homo sapiens'))))
-- 'HCC227' SubClassOf 'Homo sapiens cell line'
-- 'HCC227' SubClassOf 'bearer_of' some 'carcinoma'
-- 'HCC227' SubClassOf 'has quality' some 'female'
-- 'HCC227' SubClassOf 'cancer cell line'
-+ 'HCC227' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012292
-Label(s): hepatitis C virus, susceptibility to
-- 'hepatitis C virus, susceptibility to' SubClassOf 'predisposes towards' some 'hepatitis C virus infection'
-+ 'hepatitis C virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hepatitis C virus infection'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100488
-Label(s): CDH1-related diffuse gastric and lobular breast cancer syndrome
-- 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'hereditary gastric cancer'
-- 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'lobular breast carcinoma'
-+ 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'lobular breast carcinoma'
-+ 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hereditary gastric cancer'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0005294
-Label(s): chronic myelogenous leukemia cell line
-- 'chronic myelogenous leukemia cell line' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100308
-Label(s): atactic disorder
-- 'atactic disorder' SubClassOf 'disease has major feature' some 'Ataxia'
-- 'atactic disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Ataxia')
-+ 'atactic disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ataxia')
-+ 'atactic disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ataxia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0019290
-Label(s): hypopigmentation of the skin
-- 'hypopigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some 'Hypopigmentation of the skin')
-- 'hypopigmentation of the skin' SubClassOf 'disease has major feature' some 'Hypopigmentation of the skin'
-+ 'hypopigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypopigmentation of the skin')
-+ 'hypopigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypopigmentation of the skin'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0019289
-Label(s): hyperpigmentation of the skin
-- 'hyperpigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some 'Hyperpigmentation of the skin')
-- 'hyperpigmentation of the skin' SubClassOf 'disease has major feature' some 'Hyperpigmentation of the skin'
-+ 'hyperpigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperpigmentation of the skin'
-+ 'hyperpigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperpigmentation of the skin')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0019287
-Label(s): ectodermal dysplasia syndrome
-- 'ectodermal dysplasia syndrome' SubClassOf 'disease_has_basis_in_development_of' some 'ectoderm'
-+ 'ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of some 'ectoderm'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011892
-Label(s): epilepsy, idiopathic generalized, susceptibility to, 9
-- 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf 'predisposes towards' some 'generalised epilepsy'
-+ 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011847
-Label(s): migraine without aura, susceptibility to, 4
-- 'migraine without aura, susceptibility to, 4' SubClassOf 'predisposes towards' some 'migraine without aura'
-+ 'migraine without aura, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'migraine without aura'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011841
-Label(s): biotin-responsive basal ganglia disease
-- 'biotin-responsive basal ganglia disease' SubClassOf 'disease responds to' some 'biotin'
-- 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and ('disease responds to' some 'biotin')
-+ 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'biotin')
-+ 'biotin-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'biotin'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011772
-Label(s): B4GALT1-congenital disorder of glycosylation
-- 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'B4GALT1-congenital disorder of glycosylation' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0019132
-Label(s): spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
-- 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100195
-Label(s): X-linked intellectual disability with hypopituitarism
-- 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and ('disease has major feature' some 'hypopituitarism')
-- 'X-linked intellectual disability with hypopituitarism' SubClassOf 'disease has major feature' some 'hypopituitarism'
-+ 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'hypopituitarism')
-+ 'X-linked intellectual disability with hypopituitarism' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'hypopituitarism'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100182
-Label(s): schizophrenia, susceptibility to
-- 'schizophrenia, susceptibility to' SubClassOf 'predisposes towards' some 'schizophrenia'
-- 'schizophrenia, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'schizophrenia')
-+ 'schizophrenia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'schizophrenia'
-+ 'schizophrenia, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'schizophrenia')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100178
-Label(s): dermatitis, atopic, susceptibility to
-- 'dermatitis, atopic, susceptibility to' SubClassOf 'predisposes towards' some 'dermatitis, atopic'
-+ 'dermatitis, atopic, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'dermatitis, atopic'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100173
-Label(s): leukemia, acute myeloid, susceptibility to
-- 'leukemia, acute myeloid, susceptibility to' SubClassOf 'predisposes towards' some 'acute myeloid leukemia'
-+ 'leukemia, acute myeloid, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute myeloid leukemia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100167
-Label(s): pulmonary disease, chronic obstructive, susceptibility to
-- 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf 'predisposes towards' some 'chronic obstructive pulmonary disease'
-+ 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'chronic obstructive pulmonary disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0016120
-Label(s): myotonic syndrome
-- 'myotonic syndrome' SubClassOf 'disease has major feature' some 'Myotonia'
-- 'myotonic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Myotonia')
-+ 'myotonic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Myotonia')
-+ 'myotonic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Myotonia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100135
-Label(s): Dravet syndrome
-- 'Dravet syndrome' SubClassOf 'disease shares features of' some 'developmental and epileptic encephalopathy, 6'
-+ 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'developmental and epileptic encephalopathy, 6'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100121
-Label(s): SCN4A-related myopathy, autosomal recessive
-- 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Decreased fetal movement'
-- 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Skeletal muscle atrophy'
-- 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'craniosynostosis'
-+ 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Decreased fetal movement'
-+ 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'craniosynostosis'
-+ 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Skeletal muscle atrophy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100110
-Label(s): adenovirus renal infection
-- 'adenovirus renal infection' SubClassOf 'disease has major feature' some 'Severe adenovirus infection'
-+ 'adenovirus renal infection' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Severe adenovirus infection'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0019078
-Label(s): Ritscher-Schinzel syndrome
-- 'Ritscher-Schinzel syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'Ritscher-Schinzel syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011684
-Label(s): vitiligo-associated multiple autoimmune disease susceptibility 1
-- 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf 'predisposes towards' some 'type II hypersensitivity reaction disease'
-+ 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'type II hypersensitivity reaction disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011676
-Label(s): PHACE syndrome
-- 'PHACE syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0019046
-Label(s): leukodystrophy
-- 'leukodystrophy' SubClassOf 'disease has major feature' some 'CNS hypomyelination'
-+ 'leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'CNS hypomyelination'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011650
-Label(s): atrioventricular septal defect, susceptibility to, 2
-- 'atrioventricular septal defect, susceptibility to, 2' SubClassOf 'predisposes towards' some 'familial atrioventricular septal defect'
-+ 'atrioventricular septal defect, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'familial atrioventricular septal defect'
-
-Class: http://purl.obolibrary.org/obo/BTO_0005136
-Label(s): ES-E14 cell
-- 'ES-E14 cell' SubClassOf 'derives_from' some
-('stem cell' and ('part_of' some
-(('developmental stage' or 'organism part') and ('part_of' some 'organism'))))
-- 'ES-E14 cell' SubClassOf 'stem cell derived cell line'
-+ 'ES-E14 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012132
-Label(s): colorectal cancer, susceptibility to, 1
-- 'colorectal cancer, susceptibility to, 1' SubClassOf 'predisposes towards' some 'colorectal cancer'
-+ 'colorectal cancer, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100079
-Label(s): developmental and epileptic encephalopathy, 6
-- 'developmental and epileptic encephalopathy, 6' SubClassOf 'disease shares features of' some 'Dravet syndrome'
-+ 'developmental and epileptic encephalopathy, 6' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Dravet syndrome'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100052
-Label(s): acetazolamide-responsive hereditary episodic ataxia
-- 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf 'disease responds to' some 'acetazolamide'
-- 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and ('disease responds to' some 'acetazolamide')
-+ 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide')
-+ 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100048
-Label(s): graft-versus-host disease, susceptibility to
-- 'graft-versus-host disease, susceptibility to' SubClassOf 'predisposes towards' some 'graft versus host disease'
-+ 'graft-versus-host disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'graft versus host disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100046
-Label(s): exfoliation syndrome, susceptibility to
-- 'exfoliation syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'exfoliation syndrome'
-+ 'exfoliation syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'exfoliation syndrome'
-
-Class: http://purl.obolibrary.org/obo/BTO_0002180
-Label(s): 184B5 cell
-- '184B5 cell' SubClassOf 'mammary gland cell line'
-- '184B5 cell' SubClassOf 'derives_from' some 'HMEpC cell'
-+ '184B5 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011581
-Label(s): arrhythmogenic cardiomyopathy with wooly hair and keratoderma
-- 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Woolly hair'
-- 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy'
-- 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Palmoplantar keratoderma'
-+ 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy'
-+ 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Woolly hair'
-+ 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Palmoplantar keratoderma'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006713
-Label(s): OCI-M2
-- 'OCI-M2' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011496
-Label(s): mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
-- 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'type 2 collagenopathy'
-+ 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_1030002
-
-Class: http://purl.obolibrary.org/obo/MONDO_0020460
-Label(s): acquired von willebrand syndrome
-- 'acquired von willebrand syndrome' SubClassOf 'disease shares features of' some 'hereditary von Willebrand disease'
-+ 'acquired von willebrand syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'hereditary von Willebrand disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0020485
-Label(s): King-Denborough syndrome
-- 'King-Denborough syndrome' SubClassOf 'disease shares features of' some 'Noonan syndrome'
-+ 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Noonan syndrome'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0018425
-Label(s): Huntington disease-like syndrome due to C9ORF72 expansions
-- 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'disease has major feature' some 'dementia'
-+ 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0018430
-Label(s): partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
-- 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0016987
-Label(s): neuroacanthocytosis
-- 'neuroacanthocytosis' SubClassOf 'disease has major feature' some 'dementia'
-+ 'neuroacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002804
-Label(s): TH-2
-- 'TH-2' SubClassOf 'ENCODE cell line'
-- 'TH-2' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('organism part' and ('part_of' some 'organism'))))
-+ 'TH-2' SubClassOf 'primary cell'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002803
-Label(s): TH-1
-- 'TH-1' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('organism part' and ('part_of' some 'organism'))))
-- 'TH-1' SubClassOf 'ENCODE cell line'
-+ 'TH-1' SubClassOf 'primary cell'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0015526
-Label(s): cold-induced sweating syndrome
-- 'cold-induced sweating syndrome' SubClassOf 'disease has major feature' some 'Cold-induced sweating'
-+ 'cold-induced sweating syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cold-induced sweating'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002798
-Label(s): NB4
-- 'NB4' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002793
-Label(s): HL-60
-- 'HL-60' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011163
-Label(s): malignant hyperthermia, susceptibility to, 5
-- 'malignant hyperthermia, susceptibility to, 5' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia'
-+ 'malignant hyperthermia, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant hyperthermia of anesthesia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0020722
-Label(s): nephrolithiasis susceptibility caused by SLC26A1
-- 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf 'predisposes towards' some 'nephrolithiasis'
-+ 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'nephrolithiasis'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011157
-Label(s): Gomez-Lopez-Hernandez syndrome
-- 'Gomez-Lopez-Hernandez syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'Gomez-Lopez-Hernandez syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011147
-Label(s): chromosome 18q deletion syndrome
-- 'chromosome 18q deletion syndrome' SubClassOf 'disease has major feature' some 'cataract'
-+ 'chromosome 18q deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'cataract'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011138
-Label(s): systemic lupus erythematosus, susceptibility to, 1
-- 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus'
-+ 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'systemic lupus erythematosus'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006431
-Label(s): HCC2279
-+ 'HCC2279' SubClassOf 'bearer_of' some 'carcinoma'
-+ 'HCC2279' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('organism part' and ('part_of' some 'Homo sapiens'))))
-+ 'HCC2279' SubClassOf 'Homo sapiens cell line'
-
-Class: http://purl.obolibrary.org/obo/BTO_0000018
-Label(s): A-549 cell
-- 'A-549 cell' SubClassOf 'cultured cell' and ('bearer_of' some 'lung carcinoma')
-- 'A-549 cell' SubClassOf 'lung cancer cell line'
-+ 'A-549 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://www.ebi.ac.uk/efo/EFO_0001239
-Label(s): SUM1315MO2
-- 'SUM1315MO2' SubClassOf 'breast cancer cell line'
-+ 'SUM1315MO2' SubClassOf 'Homo sapiens cell line'
-+ 'SUM1315MO2' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('breast' and ('part_of' some 'Homo sapiens'))))
-+ 'SUM1315MO2' SubClassOf 'bearer_of' some 'invasive breast ductal carcinoma'
-+ 'SUM1315MO2' SubClassOf 'breast adenocarcinoma cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0016571
-Label(s): macrocephaly-short stature-paraplegia syndrome
-- 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'macrocephaly-short stature-paraplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0044701
-Label(s): childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
-- 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0021569
-Label(s): Emery-Dreifuss muscular dystrophy 2, autosomal dominant
-- 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf 'disease shares features of' some 'X-linked Emery-Dreifuss muscular dystrophy'
-+ 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'X-linked Emery-Dreifuss muscular dystrophy'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002352
-Label(s): SR
-+ 'SR' SubClassOf 'derives_from' some
-('T cell' and ('part_of' some
-('blood' and ('part_of' some 'Homo sapiens'))))
-+ 'SR' SubClassOf 'has quality' some 'male'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002339
-Label(s): SKO007
-- 'SKO007' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002329
-Label(s): SJRH30
-- 'SJRH30' SubClassOf 'bearer_of' some 'rhabdomyosarcoma'
-- 'SJRH30' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('musculature' and ('part_of' some 'Homo sapiens'))))
-- 'SJRH30' SubClassOf 'Homo sapiens cell line'
-- 'SJRH30' SubClassOf 'cancer cell line'
-+ 'SJRH30' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002302
-Label(s): NCI-H720
-- 'NCI-H720' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('lung' and ('part_of' some 'Homo sapiens'))))
-- 'NCI-H720' SubClassOf 'Homo sapiens cell line'
-+ 'NCI-H720' SubClassOf 'H720'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0001084
-Label(s): 3T3-L1
-+ '3T3-L1' SubClassOf 'derives_from' some
-('fibroblast' and ('part_of' some
-('organism part' and ('part_of' some 'Mus musculus'))))
-+ '3T3-L1' SubClassOf 'derives_from' some 'NIH3T3'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0002203
-Label(s): constipation disorder
-- 'constipation disorder' SubClassOf 'disease has major feature' some 'Constipation'
-- 'constipation disorder' EquivalentTo 'disease' and ('disease has major feature' some 'Constipation')
-+ 'constipation disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Constipation'
-+ 'constipation disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Constipation')
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002242
-Label(s): MV4II
-- 'MV4II' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002225
-Label(s): L428
-+ 'L428' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('pleura' and ('part_of' some 'Homo sapiens'))))
-
-Class: http://purl.obolibrary.org/obo/MONDO_0016364
-Label(s): Joubert syndrome with ocular defect
-- 'Joubert syndrome with ocular defect' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0016354
-Label(s): xeroderma pigmentosum-Cockayne syndrome complex
-- 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'xeroderma pigmentosum'
-- 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'Cockayne syndrome'
-+ 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Cockayne syndrome'
-+ 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'xeroderma pigmentosum'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006753
-Label(s): SKM-1
-- 'SKM-1' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0001191
-Label(s): HMT3522S1
-+ 'HMT3522S1' SubClassOf 'derives_from' some
-('epithelial cell' and ('part_of' some
-('mammary gland' and ('part_of' some 'Homo sapiens'))))
-+ 'HMT3522S1' SubClassOf 'mammary gland cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002194
-Label(s): HH
-- 'HH' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0007752
-Label(s): VCaP
-- 'VCaP' SubClassOf 'cancer cell line'
-+ 'VCaP' SubClassOf 'prostate cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0001219
-Label(s): MM1
-- 'MM1' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0001247
-Label(s): T47D
-- 'T47D' SubClassOf 'breast cancer cell line'
-+ 'T47D' SubClassOf 'bearer_of' some 'breast ductal adenocarcinoma'
-+ 'T47D' SubClassOf 'derives_from' some
-('mammary gland epithelial cell' and ('part_of' some
-('organism part' and ('part_of' some 'Homo sapiens'))))
-+ 'T47D' SubClassOf 'breast adenocarcinoma cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0001254
-Label(s): U266
-- 'U266' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0018045
-Label(s): Hoyeraal-Hreidarsson syndrome
-- 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0044315
-Label(s): craniosynostosis 7
-- 'craniosynostosis 7' SubClassOf 'predisposes towards' some 'craniosynostosis'
-+ 'craniosynostosis 7' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'craniosynostosis'
-
-Class: http://www.ebi.ac.uk/efo/EFO_1001467
-Label(s): Hypereosinophilic syndrome
-- 'Hypereosinophilic syndrome' SubClassOf 'disease has major feature' some 'Eosinophilia'
-- 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Eosinophilia')
-+ 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Eosinophilia'
-+ 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Eosinophilia')
-
-Class: http://www.ebi.ac.uk/efo/EFO_1001402
-Label(s): postencephalitic Parkinson disease
-- 'postencephalitic Parkinson disease' SubClassOf 'disease has major feature' some 'dementia'
-+ 'postencephalitic Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0000065
-Label(s): microvascular complications of diabetes, susceptibility
-- 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'diabetic retinopathy')
-- 'microvascular complications of diabetes, susceptibility' SubClassOf 'predisposes towards' some 'diabetic retinopathy'
-+ 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'diabetic retinopathy')
-+ 'microvascular complications of diabetes, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'diabetic retinopathy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0021187
-Label(s): hyperlipidemia
-- 'hyperlipidemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Hyperlipidemia')
-- 'hyperlipidemia' SubClassOf 'disease has major feature' some 'Hyperlipidemia'
-+ 'hyperlipidemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipidemia')
-+ 'hyperlipidemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipidemia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0000152
-Label(s): thiamine-responsive dysfunction syndrome
-- 'thiamine-responsive dysfunction syndrome' SubClassOf 'disease responds to' some 'vitamin B1'
-+ 'thiamine-responsive dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0021058
-Label(s): neoplastic syndrome
-- 'neoplastic syndrome' SubClassOf 'disease has major feature' some 'neoplasm'
-- 'neoplastic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'neoplasm')
-+ 'neoplastic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'neoplasm')
-+ 'neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'neoplasm'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0021024
-Label(s): malaria, susceptibility to
-- 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malaria')
-- 'malaria, susceptibility to' SubClassOf 'predisposes towards' some 'malaria'
-+ 'malaria, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malaria'
-+ 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malaria')
-
-Class: http://www.ebi.ac.uk/efo/EFO_0030017
-Label(s): RCH-ACV
-- 'RCH-ACV' SubClassOf 'lymphoma or leukaemia cell line'
-- 'RCH-ACV' SubClassOf 'derives_from' some
-('bone marrow' and ('part_of' some 'Homo sapiens') and ('bearer_of' some 'acute lymphoblastic leukemia') and ('has quality' some 'female'))
-+ 'RCH-ACV' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://purl.obolibrary.org/obo/BTO_0000797
-Label(s): colonic cancer cell line
-- 'colonic cancer cell line' SubClassOf 'cultured cell'
-+ 'colonic cancer cell line' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002046
-Label(s): BC-3
-- 'BC-3' SubClassOf 'cultured cell'
-+ 'BC-3' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002059
-Label(s): HT1080
-+ 'HT1080' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('connective tissue' and ('part_of' some 'Homo sapiens'))))
-
-Class: http://purl.obolibrary.org/obo/MONDO_0010940
-Label(s): inherited susceptibility to asthma
-- 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'asthma')
-- 'inherited susceptibility to asthma' SubClassOf 'predisposes towards' some 'asthma'
-+ 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'asthma')
-+ 'inherited susceptibility to asthma' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'asthma'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0054754
-Label(s): encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
-- 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy'
-+ 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Mendelian encephalopathy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0054750
-Label(s): amyotrophic lateral sclerosis, susceptibility to, 24
-- 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf 'predisposes towards' some 'familial amyotrophic lateral sclerosis'
-+ 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'familial amyotrophic lateral sclerosis'
-
-Class: http://www.ebi.ac.uk/efo/EFO_1001175
-Label(s): secondary Parkinson disease
-- 'secondary Parkinson disease' SubClassOf 'disease shares features of' some 'Parkinson disease'
-+ 'secondary Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Parkinson disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0000365
-Label(s): primary congenital glaucoma
-- 'primary congenital glaucoma' SubClassOf 'congenital glaucoma'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0008919
-Label(s): systemic primary carnitine deficiency disease
-+ 'systemic primary carnitine deficiency disease' SubClassOf 'inborn disorder of amino acid metabolism'
-
-Class: http://www.ebi.ac.uk/efo/EFO_1001053
-Label(s): myoclonic cerebellar dyssynergia
-- 'myoclonic cerebellar dyssynergia' SubClassOf 'disease shares features of' some 'myoclonic cerebellar dyssynergia'
-+ 'myoclonic cerebellar dyssynergia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'myoclonic cerebellar dyssynergia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013920
-Label(s): herpes simplex encephalitis, susceptibility to, 3
-- 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy'
-+ 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Mendelian encephalopathy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0008891
-Label(s): riboflavin transporter deficiency
-- 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'Sensorineural hearing impairment'
-- 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'bulbospinal muscular atrophy'
-+ 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'bulbospinal muscular atrophy'
-+ 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Sensorineural hearing impairment'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0018591
-Label(s): ITM2B amyloidosis
-- 'ITM2B amyloidosis' SubClassOf 'disease has major feature' some 'dementia'
-+ 'ITM2B amyloidosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0007136
-Label(s): agnosia
-- 'agnosia' EquivalentTo 'perceptual disorders' and ('disease has major feature' some 'Disturbed sensory perception')
-- 'agnosia' SubClassOf 'disease has major feature' some 'Disturbed sensory perception'
-+ 'agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Disturbed sensory perception'
-+ 'agnosia' EquivalentTo 'perceptual disorders' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Disturbed sensory perception')
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006579
-Label(s): HEL
-- 'HEL' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013876
-Label(s): basal cell carcinoma, susceptibility to, 7
-- 'basal cell carcinoma, susceptibility to, 7' SubClassOf 'predisposes towards' some 'skin basal cell carcinoma'
-+ 'basal cell carcinoma, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'skin basal cell carcinoma'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009266
-Label(s): refractory celiac disease
-- 'refractory celiac disease' SubClassOf 'disease shares features of' some 'celiac disease'
-+ 'refractory celiac disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'celiac disease'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022818
-Label(s): NS-0
-- 'NS-0' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022817
-Label(s): PFHR 9
-+ 'PFHR 9' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0008763
-Label(s): Alstrom syndrome
-- 'Alstrom syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy'
-+ 'Alstrom syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0008711
-Label(s): Goodman syndrome
-- 'Goodman syndrome' SubClassOf 'disease shares features of' some 'Carpenter syndrome'
-+ 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Carpenter syndrome'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002205
-Label(s): Hep3B
-+ 'Hep3B' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('liver' and ('part_of' some 'Homo sapiens'))))
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002207
-Label(s): HuNS1
-- 'HuNS1' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022786
-Label(s): RT4 NF2.17
-+ 'RT4 NF2.17 ' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022785
-Label(s): RT4-67
-+ 'RT4-67' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022777
-Label(s): AtT-20
-+ 'AtT-20' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022774
-Label(s): P-19
-+ 'P-19' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022768
-Label(s): H-4-II-E
-+ 'H-4-II-E' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022764
-Label(s): RIN-m
-+ 'RIN-m' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022712
-Label(s): LN-428
-+ 'LN-428' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022706
-Label(s): U3082MG
-+ 'U3082MG' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022705
-Label(s): U3118MG
-+ 'U3118MG' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013685
-Label(s): pancreatic cancer, susceptibility to, 4
-- 'pancreatic cancer, susceptibility to, 4' SubClassOf 'predisposes towards' some 'Malignant Pancreatic Neoplasm'
-+ 'pancreatic cancer, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Malignant Pancreatic Neoplasm'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022694
-Label(s): MOLM-13
-- 'MOLM-13' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022665
-Label(s): SF-188
-+ 'SF-188' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022643
-Label(s): BON-1
-+ 'BON-1 ' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022627
-Label(s): U-178MG
-+ 'U-178MG' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0008570
-Label(s): thyrotoxic periodic paralysis, susceptibility to, 1
-- 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf 'predisposes towards' some 'thyrotoxic periodic paralysis'
-+ 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'thyrotoxic periodic paralysis'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013568
-Label(s): sick sinus syndrome 3, susceptibility to
-- 'sick sinus syndrome 3, susceptibility to' SubClassOf 'predisposes towards' some 'sick sinus syndrome'
-+ 'sick sinus syndrome 3, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'sick sinus syndrome'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022535
-Label(s): HAP1
-- 'HAP1' SubClassOf 'Homo sapiens cell line'
-- 'HAP1' SubClassOf 'chronic myelogenous leukemia cell line'
-- 'HAP1' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia'
-- 'HAP1' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('bone marrow' and ('part_of' some 'Homo sapiens'))))
-+ 'HAP1' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022532
-Label(s): NB4-MR2
-- 'NB4-MR2' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022523
-Label(s): KBM-3
-- 'KBM-3' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013409
-Label(s): age related macular degeneration 5
-- 'age related macular degeneration 5' SubClassOf 'predisposes towards' some 'age-related macular degeneration'
-+ 'age related macular degeneration 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'age-related macular degeneration'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022446
-Label(s): MOLM-14 cell
-- 'MOLM-14 cell' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022439
-Label(s): ML-1 cell
-- 'ML-1 cell' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022428
-Label(s): KOPN-8 cell
-- 'KOPN-8 cell' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022426
-Label(s): M-07E cell
-- 'M-07E cell' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0001166
-Label(s): H720
-+ 'H720' SubClassOf 'Homo sapiens cell line'
-+ 'H720' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('lung' and ('part_of' some 'Homo sapiens'))))
-
-Class: http://purl.obolibrary.org/obo/MONDO_0008419
-Label(s): scoliosis, isolated, susceptibility to, 1
-- 'scoliosis, isolated, susceptibility to, 1' SubClassOf 'predisposes towards' some 'idiopathic scoliosis'
-+ 'scoliosis, isolated, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'idiopathic scoliosis'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013340
-Label(s): Parkinson disease 5, autosomal dominant, susceptibility to
-- 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease'
-+ 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Parkinson disease'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022399
-Label(s): AML-193 cell
-- 'AML-193 cell' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022398
-Label(s): TF1 cell
-- 'TF1 cell' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022388
-Label(s): T-47D cell
-- 'T-47D cell' SubClassOf 'epithelial cell derived cell line'
-- 'T-47D cell' SubClassOf 'bearer_of' some 'breast ductal adenocarcinoma'
-- 'T-47D cell' SubClassOf 'breast adenocarcinoma cell line'
-- 'T-47D cell' SubClassOf 'derives_from' some
-('mammary gland epithelial cell' and ('part_of' some
-('organism part' and ('part_of' some 'Homo sapiens'))))
-- 'T-47D cell' SubClassOf 'Homo sapiens cell line'
-+ 'T-47D cell' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022386
-Label(s): HEP-3B cell
-- 'HEP-3B cell' SubClassOf 'Homo sapiens cell line'
-- 'HEP-3B cell' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('liver' and ('part_of' some 'Homo sapiens'))))
-- 'HEP-3B cell' SubClassOf 'bearer_of' some 'hepatocellular carcinoma'
-- 'HEP-3B cell' SubClassOf 'hepatoma cell line'
-+ 'HEP-3B cell' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022380
-Label(s): L-428 cell
-- 'L-428 cell' SubClassOf 'bearer_of' some 'Hodgkins lymphoma'
-- 'L-428 cell' SubClassOf 'Homo sapiens cell line'
-- 'L-428 cell' SubClassOf 'lymphoma or leukaemia cell line'
-- 'L-428 cell' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('pleura' and ('part_of' some 'Homo sapiens'))))
-+ 'L-428 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013311
-Label(s): ectodermal dysplasia-syndactyly syndrome
-- 'ectodermal dysplasia-syndactyly syndrome' SubClassOf 'disease has major feature' some 'Syndactyly'
-+ 'ectodermal dysplasia-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Syndactyly'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0000836
-Label(s): disease of bone structure
-- 'disease of bone structure' SubClassOf 'disease has major feature' some 'Abnormal skeletal morphology'
-+ 'disease of bone structure' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal skeletal morphology'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0019002
-Label(s): Lhermitte-Duclos disease
-- 'Lhermitte-Duclos disease' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0018861
-Label(s): Zellweger-like syndrome without peroxisomal anomalies
-- 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease shares features of' some 'Zellweger spectrum disorders'
-+ 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Zellweger spectrum disorders'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0018838
-Label(s): lissencephaly spectrum disorders
-- 'lissencephaly spectrum disorders' SubClassOf 'disease has major feature' some 'Lissencephaly'
-+ 'lissencephaly spectrum disorders' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Lissencephaly'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0018822
-Label(s): global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
-- 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0008162
-Label(s): otitis media, susceptibility to
-- 'otitis media, susceptibility to' SubClassOf 'predisposes towards' some 'Otitis media'
-- 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Otitis media')
-+ 'otitis media, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Otitis media'
-+ 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Otitis media')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0007885
-Label(s): Legg-Calve-Perthes disease
-- 'Legg-Calve-Perthes disease' SubClassOf 'type 2 collagenopathy'
-+ 'Legg-Calve-Perthes disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_1030002
-
-Class: http://purl.obolibrary.org/obo/MONDO_0018763
-Label(s): tubulinopathy-associated dysgyria
-- 'tubulinopathy-associated dysgyria' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'tubulinopathy-associated dysgyria' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0000685
-Label(s): visual agnosia
-- 'visual agnosia' SubClassOf 'disease has major feature' some 'Visual agnosia'
-+ 'visual agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Visual agnosia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013713
-Label(s): dengue virus, susceptibility to
-- 'dengue virus, susceptibility to' SubClassOf 'predisposes towards' some 'dengue disease'
-- 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'dengue disease')
-+ 'dengue virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'dengue disease'
-+ 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'dengue disease')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013722
-Label(s): hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
-- 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/CL_0000115
-Label(s): endothelial cell
-- 'endothelial cell' SubClassOf 'epithelial cell'
-+ 'endothelial cell' SubClassOf 'cell'
-+ 'endothelial cell' SubClassOf 'cell type'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013088
-Label(s): follicular lymphoma, susceptibility to, 1
-- 'follicular lymphoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'follicular lymphoma'
-+ 'follicular lymphoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'follicular lymphoma'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013083
-Label(s): neuroblastoma, susceptibility to, 3
-- 'neuroblastoma, susceptibility to, 3' SubClassOf 'predisposes towards' some 'neuroblastoma'
-+ 'neuroblastoma, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0008738
-Label(s): aganglionosis, total intestinal
-- 'aganglionosis, total intestinal' SubClassOf 'disease shares features of' some 'Hirschsprung disease'
-+ 'aganglionosis, total intestinal' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Hirschsprung disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013562
-Label(s): aspergillosis, susceptibility to
-- 'aspergillosis, susceptibility to' SubClassOf 'predisposes towards' some 'aspergillosis'
-- 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'aspergillosis')
-+ 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'aspergillosis')
-+ 'aspergillosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'aspergillosis'
-
-Class: http://purl.obolibrary.org/obo/CL_0000071
-Label(s): blood vessel endothelial cell
-- 'blood vessel endothelial cell' SubClassOf 'squamous epithelial cell'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013855
-Label(s): influenza, severe, susceptibility to
-- 'influenza, severe, susceptibility to' SubClassOf 'predisposes towards' some 'influenza'
-+ 'influenza, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'influenza'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006307
-Label(s): UKE1
-- 'UKE1' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022671
-Label(s): UWR2
-+ 'UWR2' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013921
-Label(s): herpes simplex encephalitis, susceptibility to, 4
-- 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy'
-+ 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Mendelian encephalopathy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0008915
-Label(s): dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
-- 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some 'Hypergonadotropic hypogonadism'
-- 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy'
-+ 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy'
-+ 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypergonadotropic hypogonadism'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0018493
-Label(s): malignant hyperthermia of anesthesia
-- 'malignant hyperthermia of anesthesia' SubClassOf 'disease has major feature' some 'Malignant hyperthermia'
-+ 'malignant hyperthermia of anesthesia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Malignant hyperthermia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0000358
-Label(s): orofacial cleft
-- 'orofacial cleft' SubClassOf 'disease_has_basis_in_development_of' some 'embryonic facial prominence'
-- 'orofacial cleft' SubClassOf 'disease has major feature' some 'Orofacial cleft'
-+ 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of some 'embryonic facial prominence'
-+ 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Orofacial cleft'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0004280
-Label(s): movement disorder
-- 'movement disorder' EquivalentTo 'disease' and ('disease has major feature' some 'Abnormality of movement')
-- 'movement disorder' SubClassOf 'disease has major feature' some 'Abnormality of movement'
-+ 'movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormality of movement'
-+ 'movement disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormality of movement')
-
-Class: http://www.ebi.ac.uk/efo/EFO_0004152
-Label(s): chorea
-- 'chorea' SubClassOf 'disease has major feature' some 'Chorea'
-+ 'chorea' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Chorea'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0018266
-Label(s): ataxia - telangiectasia variant
-- 'ataxia - telangiectasia variant' SubClassOf 'disease shares features of' some 'ataxia telangiectasia'
-+ 'ataxia - telangiectasia variant' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'ataxia telangiectasia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0000162
-Label(s): autoimmune thyroid disease, susceptibility to
-- 'autoimmune thyroid disease, susceptibility to' SubClassOf 'predisposes towards' some 'autoimmune thyroid disease'
-- 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autoimmune thyroid disease')
-+ 'autoimmune thyroid disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autoimmune thyroid disease'
-+ 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autoimmune thyroid disease')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0000156
-Label(s): trigonocephaly
-- 'trigonocephaly' SubClassOf 'disease has major feature' some 'Trigonocephaly'
-+ 'trigonocephaly' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Trigonocephaly'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0000108
-Label(s): bacteremia, susceptibility
-- 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'bacteriemia')
-- 'bacteremia, susceptibility' SubClassOf 'predisposes towards' some 'bacteriemia'
-+ 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'bacteriemia')
-+ 'bacteremia, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'bacteriemia'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022394
-Label(s): HT-1080 cell
-- 'HT-1080 cell' SubClassOf 'cancer cell line'
-- 'HT-1080 cell' SubClassOf 'bearer_of' some 'fibrosarcoma'
-- 'HT-1080 cell' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('connective tissue' and ('part_of' some 'Homo sapiens'))))
-- 'HT-1080 cell' SubClassOf 'Homo sapiens cell line'
-+ 'HT-1080 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://purl.obolibrary.org/obo/MONDO_0016033
-Label(s): Cornelia de Lange syndrome
-- 'Cornelia de Lange syndrome' SubClassOf 'congenital limb malformation'
-- 'Cornelia de Lange syndrome' SubClassOf 'dysostosis'
-+ 'Cornelia de Lange syndrome' SubClassOf 'congenital limb malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0007681
-Label(s): goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
-+ 'goiter, multinodular 1, with or without Sertoli-Leydig cell tumors' SubClassOf 'DICER1-related tumor predisposition'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0000070
-Label(s): Mycobacterium tuberculosis, susceptibility
-- 'Mycobacterium tuberculosis, susceptibility' SubClassOf 'predisposes towards' some 'tuberculosis'
-- 'Mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'tuberculosis')
-+ 'Mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'tuberculosis')
-+ 'Mycobacterium tuberculosis, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'tuberculosis'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022444
-Label(s): KP-L-RY
-- 'KP-L-RY' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022462
-Label(s): NOMO-1 cell
-- 'NOMO-1 cell' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002314
-Label(s): RCHACV
-+ 'RCHACV' SubClassOf 'derives_from' some
-('bone marrow' and ('part_of' some 'Homo sapiens') and ('bearer_of' some 'acute lymphoblastic leukemia') and ('has quality' some 'female'))
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022513
-Label(s): UTMC-2
-- 'UTMC-2' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009550
-Label(s): headache disorder
-- 'headache disorder' SubClassOf 'disease has major feature' some 'Headache'
-- 'headache disorder' EquivalentTo 'neurological pain disorder' and ('disease has major feature' some 'Headache')
-+ 'headache disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Headache'
-+ 'headache disorder' EquivalentTo 'neurological pain disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Headache')
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009532
-Label(s): autonomic nervous system disease
-- 'autonomic nervous system disease' SubClassOf 'disease has major feature' some 'Abnormal autonomic nervous system physiology'
-+ 'autonomic nervous system disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal autonomic nervous system physiology'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100440
-Label(s): Asperger syndrome, susceptibility to
-- 'Asperger syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'Asperger syndrome'
-- 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Asperger syndrome')
-+ 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Asperger syndrome')
-+ 'Asperger syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Asperger syndrome'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006611
-Label(s): KMM-1
-- 'KMM-1' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006612
-Label(s): KMS-12-BM
-- 'KMS-12-BM' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006613
-Label(s): KMS-12-PE
-- 'KMS-12-PE' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006614
-Label(s): KMS-21-BM
-- 'KMS-21-BM' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002937
-Label(s): lymphoma or leukaemia cell line
-- 'lymphoma or leukaemia cell line' SubClassOf 'cultured cell'
-+ 'lymphoma or leukaemia cell line' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006652
-Label(s): MOLM-16
-- 'MOLM-16' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0010574
-Label(s): syndromic X-linked intellectual disability 5
-- 'syndromic X-linked intellectual disability 5' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'syndromic X-linked intellectual disability 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011775
-Label(s): nasopharyngeal carcinoma, susceptibility to, 1
-- 'nasopharyngeal carcinoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'nasopharyngeal carcinoma'
-+ 'nasopharyngeal carcinoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'nasopharyngeal carcinoma'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009430
-Label(s): neuralgia
-- 'neuralgia' EquivalentTo 'peripheral neuropathy' and ('disease has major feature' some 'Pain')
-+ 'neuralgia' EquivalentTo 'peripheral neuropathy' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0800453
-Label(s): juvenile absence epilepsy
-- 'juvenile absence epilepsy' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy'
-+ 'juvenile absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile absence epilepsy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0800425
-Label(s): coronary artery disease, severe, susceptibility to
-- 'coronary artery disease, severe, susceptibility to' SubClassOf 'predisposes towards' some 'coronary artery disease'
-+ 'coronary artery disease, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0800421
-Label(s): cardiomyopathy, familial hypertrophic, 4, susceptibility to
-- 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf 'predisposes towards' some 'hypertrophic cardiomyopathy'
-+ 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hypertrophic cardiomyopathy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0800414
-Label(s): aplastic anemia, susceptibility to
-- 'aplastic anemia, susceptibility to' SubClassOf 'predisposes towards' some 'aplastic anemia'
-+ 'aplastic anemia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'aplastic anemia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0002527
-Label(s): keratoacanthoma
-- 'keratoacanthoma' SubClassOf 'disease shares features of' some 'squamous cell carcinoma'
-+ 'keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'squamous cell carcinoma'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0001253
-Label(s): THP-1
-- 'THP-1' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0010464
-Label(s): X-linked cerebral-cerebellar-coloboma syndrome syndrome
-- 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022714
-Label(s): LN-308
-+ 'LN-308' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0010417
-Label(s): syndromic X-linked intellectual disability Najm type
-- 'syndromic X-linked intellectual disability Najm type' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'syndromic X-linked intellectual disability Najm type' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022778
-Label(s): RT4-D6P2T
-+ 'RT4-D6P2T' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006712
-Label(s): OCI-M1
-- 'OCI-M1' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0010337
-Label(s): X-linked intellectual disability-cerebellar hypoplasia syndrome
-- 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0001551
-Label(s): ulceration of vulva
-- 'ulceration of vulva' SubClassOf 'disease has major feature' some 'Genital ulcers'
-- 'ulceration of vulva' EquivalentTo 'disease' and ('disease has location' some 'mammalian vulva') and ('disease has major feature' some 'Genital ulcers')
-+ 'ulceration of vulva' EquivalentTo 'disease' and ('disease has location' some 'mammalian vulva') and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Genital ulcers')
-+ 'ulceration of vulva' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Genital ulcers'
-
-Class: http://purl.obolibrary.org/obo/CL_1000398
-Label(s): endothelial cell of hepatic sinusoid
-- 'endothelial cell of hepatic sinusoid' SubClassOf 'endothelial cell'
-+ 'endothelial cell of hepatic sinusoid' SubClassOf 'blood vessel endothelial cell'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0016543
-Label(s): hyperphenylalaninemia due to tetrahydrobiopterin deficiency
-- 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'disease shares features of' some 'phenylketonuria'
-+ 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'phenylketonuria'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002248
-Label(s): NCI-H1048
-- 'NCI-H1048' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0010255
-Label(s): diabetes mellitus, insulin-dependent, X-linked, susceptibility to
-- 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'type 1 diabetes mellitus')
-- 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf 'predisposes towards' some 'type 1 diabetes mellitus'
-+ 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'type 1 diabetes mellitus')
-+ 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'type 1 diabetes mellitus'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0800174
-Label(s): encephalitis, acute, infection-induced, susceptibility to
-- 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'encephalopathy, acute, infection-induced')
-- 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf 'predisposes towards' some 'encephalopathy, acute, infection-induced'
-+ 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'encephalopathy, acute, infection-induced')
-+ 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'encephalopathy, acute, infection-induced'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0800153
-Label(s): urea cycle disorder or inherited hyperammonemia
-- 'urea cycle disorder or inherited hyperammonemia' SubClassOf 'disease has major feature' some 'Hyperammonemia'
-+ 'urea cycle disorder or inherited hyperammonemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperammonemia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0020836
-Label(s): autism, susceptiblity to
-- 'autism, susceptiblity to' SubClassOf 'predisposes towards' some 'autism'
-- 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autism')
-+ 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism')
-+ 'autism, susceptiblity to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0010176
-Label(s): orofaciodigital syndrome type 6
-- 'orofaciodigital syndrome type 6' SubClassOf 'disease has major feature' some 'central nervous system malformation'
-+ 'orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0010172
-Label(s): VACTERL with hydrocephalus
-- 'VACTERL with hydrocephalus' SubClassOf 'disease shares features of' some 'VACTERL/vater association'
-+ 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'VACTERL/vater association'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009052
-Label(s): Pleuropulmonary blastoma
-- 'Pleuropulmonary blastoma' SubClassOf 'genetic disorder'
-+ 'Pleuropulmonary blastoma' SubClassOf 'DICER1-related tumor predisposition'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0001223
-Label(s): NIH3T3-L1
-- 'NIH3T3-L1' SubClassOf 'embryonic cell line'
-- 'NIH3T3-L1' SubClassOf 'derives_from' some 'NIH3T3'
-- 'NIH3T3-L1' SubClassOf 'derives_from' some
-('fibroblast' and ('part_of' some
-('organism part' and ('part_of' some 'Mus musculus'))))
-- 'NIH3T3-L1' SubClassOf 'mouse cell line'
-- 'NIH3T3-L1' SubClassOf 'fibroblast derived cell line'
-+ 'NIH3T3-L1' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://purl.obolibrary.org/obo/MONDO_0001673
-Label(s): diarrheal disease
-- 'diarrheal disease' EquivalentTo 'disease' and ('disease has major feature' some 'Diarrhea')
-- 'diarrheal disease' SubClassOf 'disease has major feature' some 'Diarrhea'
-+ 'diarrheal disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Diarrhea')
-+ 'diarrheal disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Diarrhea'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0007319
-Label(s): hyperprolactinemia
-- 'hyperprolactinemia' SubClassOf 'disease has major feature' some 'Increased circulating prolactin concentration'
-+ 'hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Increased circulating prolactin concentration'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022374
-Label(s): sum1315
-- 'sum1315' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-('breast' and ('part_of' some 'Homo sapiens'))))
-- 'sum1315' SubClassOf 'Homo sapiens cell line'
-- 'sum1315' SubClassOf 'bearer_of' some 'invasive breast ductal carcinoma'
-- 'sum1315' SubClassOf 'breast adenocarcinoma cell line'
-+ 'sum1315' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://purl.obolibrary.org/obo/MONDO_0020752
-Label(s): myoclonic epilepsy, juvenile, susceptibility to, 1
-- 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf 'predisposes towards' some 'juvenile myoclonic epilepsy'
-+ 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile myoclonic epilepsy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0020715
-Label(s): multiple system atrophy 1, susceptibility to
-- 'multiple system atrophy 1, susceptibility to' SubClassOf 'predisposes towards' some 'multiple system atrophy'
-+ 'multiple system atrophy 1, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple system atrophy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0020705
-Label(s): neural tube defects, susceptibility to
-- 'neural tube defects, susceptibility to' SubClassOf 'predisposes towards' some 'neural tube defect'
-- 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neural tube defect')
-+ 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neural tube defect')
-+ 'neural tube defects, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neural tube defect'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0007845
-Label(s): Kaposi sarcoma, susceptibility to
-- 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Kaposi's sarcoma')
-- 'Kaposi sarcoma, susceptibility to' SubClassOf 'predisposes towards' some 'Kaposi's sarcoma'
-+ 'Kaposi sarcoma, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Kaposi's sarcoma'
-+ 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Kaposi's sarcoma')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0015688
-Label(s): myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
-- 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf 'disease has major feature' some 'Eosinophilia'
-+ 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Eosinophilia'
-
-Class: http://www.ebi.ac.uk/efo/EFO_1000968
-Label(s): hydrophthalmos
-- 'hydrophthalmos' SubClassOf 'primary congenital glaucoma'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0030018
-Label(s): BLaER1
-- 'BLaER1' SubClassOf 'derives_from' some 'RCH-ACV'
-+ 'BLaER1' SubClassOf 'derives_from' some 'RCHACV'
-+ 'BLaER1' SubClassOf 'Homo sapiens cell line'
-
-Class: http://purl.obolibrary.org/obo/CL_0002633
-Label(s): respiratory basal cell
-- 'respiratory basal cell' SubClassOf 'respiratory epithelial cell'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100216
-Label(s): DICER1-related tumor predisposition
-- 'DICER1-related tumor predisposition' SubClassOf 'predisposes towards' some 'cancer'
-+ 'DICER1-related tumor predisposition' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'cancer'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0015566
-Label(s): 2q24 microdeletion syndrome
-- '2q24 microdeletion syndrome' SubClassOf 'disease has major feature' some 'cataract'
-+ '2q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'cataract'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0013032
-Label(s): epilepsy, idiopathic generalized, susceptibility to, 8
-- 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf 'predisposes towards' some 'generalised epilepsy'
-+ 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy'
-
-Class: http://www.ebi.ac.uk/efo/EFO_1000800
-Label(s): alcohol withdrawal delirium
-- 'alcohol withdrawal delirium' SubClassOf 'disease has major feature' some 'Delirium'
-+ 'alcohol withdrawal delirium' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Delirium'
-
-Class: http://www.ebi.ac.uk/efo/EFO_1000727
-Label(s): lipodystrophy
-- 'lipodystrophy' SubClassOf 'disease has major feature' some 'Lipodystrophy'
-- 'lipodystrophy' EquivalentTo 'disease' and ('disease has major feature' some 'Lipodystrophy')
-+ 'lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Lipodystrophy'
-+ 'lipodystrophy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Lipodystrophy')
-
-Class: http://purl.obolibrary.org/obo/BTO_0001516
-Label(s): BA/F3 cell
-- 'BA/F3 cell' SubClassOf 'mouse cell line'
-- 'BA/F3 cell' SubClassOf 'derives_from' some
-('cell type' and ('part_of' some
-(('developmental stage' or 'organism part') and ('part_of' some 'Mus'))))
-- 'BA/F3 cell' SubClassOf 'derives_from' some 'BALB/c'
-+ 'BA/F3 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://purl.obolibrary.org/obo/MONDO_0020483
-Label(s): acetazolamide-responsive myotonia
-- 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and ('disease responds to' some 'acetazolamide')
-- 'acetazolamide-responsive myotonia' SubClassOf 'disease responds to' some 'acetazolamide'
-+ 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide')
-+ 'acetazolamide-responsive myotonia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011450
-Label(s): breast-ovarian cancer, familial, susceptibility to, 1
-- 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome'
-+ 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hereditary breast ovarian cancer syndrome'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0001221
-Label(s): NCI-H929
-- 'NCI-H929' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0015356
-Label(s): hereditary neoplastic syndrome
-- 'hereditary neoplastic syndrome' SubClassOf 'predisposes towards' some 'neoplasm'
-- 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neoplasm')
-+ 'hereditary neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neoplasm'
-+ 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neoplasm')
-
-Class: http://www.ebi.ac.uk/efo/EFO_1000670
-Label(s): anhidrosis
-- 'anhidrosis' SubClassOf 'disease has major feature' some 'Anhidrosis'
-+ 'anhidrosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Anhidrosis'
-
-Class: http://www.ebi.ac.uk/efo/EFO_1000648
-Label(s): developmental dysplasia of the hip
-- 'developmental dysplasia of the hip' SubClassOf 'disease has major feature' some 'Abnormal hip joint morphology'
-+ 'developmental dysplasia of the hip' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal hip joint morphology'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002113
-Label(s): BDCM
-- 'BDCM' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002130
-Label(s): CESS
-- 'CESS' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0020380
-Label(s): autosomal dominant cerebellar ataxia
-- 'autosomal dominant cerebellar ataxia' SubClassOf 'disease has major feature' some 'dementia'
-+ 'autosomal dominant cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia'
-
-Class: http://purl.obolibrary.org/obo/CL_0002370
-Label(s): respiratory goblet cell
-+ 'respiratory goblet cell' SubClassOf 'respiratory epithelial cell'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0002839
-Label(s): leather-bottle stomach
-- 'leather-bottle stomach' SubClassOf 'cancer-related condition'
-- 'leather-bottle stomach' SubClassOf 'stomach disease'
-- 'leather-bottle stomach' SubClassOf 'disease has location' some 'wall of stomach'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0001189
-Label(s): HMEC S1
-- 'HMEC S1' SubClassOf 'Homo sapiens cell line'
-- 'HMEC S1' SubClassOf 'mammary gland cell line'
-- 'HMEC S1' SubClassOf 'bearer_of' some 'breast carcinoma'
-- 'HMEC S1' SubClassOf 'epithelial cell derived cell line'
-- 'HMEC S1' SubClassOf 'breast cancer cell line'
-- 'HMEC S1' SubClassOf 'derives_from' some
-('epithelial cell' and ('part_of' some
-('mammary gland' and ('part_of' some 'Homo sapiens'))))
-+ 'HMEC S1' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://www.ebi.ac.uk/efo/EFO_0001184
-Label(s): HEK293T
-- 'HEK293T' SubClassOf 'kidney derived cell line'
-- 'HEK293T' SubClassOf 'derives_from' some
-('epithelial cell' and ('part_of' some
-('kidney' and ('part_of' some 'organism'))))
-- 'HEK293T' SubClassOf 'epithelial cell derived cell line'
-+ 'HEK293T' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://purl.obolibrary.org/obo/MONDO_0014347
-Label(s): short stature with microcephaly and distinctive facies
-+ 'short stature with microcephaly and distinctive facies' SubClassOf 'Rothmund-Thomson syndrome'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0015282
-Label(s): cardiomyopathy-cataract-hip spine disease syndrome
-- 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'articular cartilage disorder'
-- 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy'
-- 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'Cataract'
-+ 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'articular cartilage disorder'
-+ 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy'
-+ 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cataract'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006716
-Label(s): OPM-2
-- 'OPM-2' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006707
-Label(s): OCI-AML5
-- 'OCI-AML5' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006706
-Label(s): OCI-AML2
-- 'OCI-AML2' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002218
-Label(s): KG1
-- 'KG1' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002229
-Label(s): MCCAR
-- 'MCCAR' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0020289
-Label(s): congenital tricuspid malformation
-- 'congenital tricuspid malformation' SubClassOf 'disease has major feature' some 'Abnormal tricuspid valve morphology'
-- 'congenital tricuspid malformation' EquivalentTo 'disease' and ('disease has major feature' some 'Abnormal tricuspid valve morphology')
-+ 'congenital tricuspid malformation' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal tricuspid valve morphology'
-+ 'congenital tricuspid malformation' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal tricuspid valve morphology')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0020246
-Label(s): inherited vitreoretinopathy
-- 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and ('disease has major feature' some 'Vitreoretinopathy')
-- 'inherited vitreoretinopathy' SubClassOf 'disease has major feature' some 'Vitreoretinopathy'
-+ 'inherited vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Vitreoretinopathy'
-+ 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Vitreoretinopathy')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0020242
-Label(s): hereditary macular dystrophy
-- 'hereditary macular dystrophy' SubClassOf 'disease has major feature' some 'Macular dystrophy'
-- 'hereditary macular dystrophy' EquivalentTo 'inherited retinal dystrophy' and ('disease has major feature' some 'Macular dystrophy')
-+ 'hereditary macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Macular dystrophy'
-+ 'hereditary macular dystrophy' EquivalentTo 'inherited retinal dystrophy' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Macular dystrophy')
-
-Class: http://www.ebi.ac.uk/efo/EFO_0001082
-Label(s): 293T
-+ '293T' SubClassOf 'epithelial cell derived cell line'
-+ '293T' SubClassOf 'derives_from' some
-('epithelial cell' and ('part_of' some
-('kidney' and ('part_of' some 'organism'))))
-
-Class: http://purl.obolibrary.org/obo/MONDO_0015140
-Label(s): early-onset autosomal dominant Alzheimer disease
-- 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'disease has major feature' some 'dementia'
-+ 'early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006654
-Label(s): MOLP-8
-- 'MOLP-8' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006653
-Label(s): MOLP-2
-- 'MOLP-2' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006645
-Label(s): ME-1
-- 'ME-1' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006619
-Label(s): KMS-34
-- 'KMS-34' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006618
-Label(s): KMS-28PE
-- 'KMS-28PE' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006617
-Label(s): KMS-28BM
-- 'KMS-28BM' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006616
-Label(s): KMS-27
-- 'KMS-27' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006609
-Label(s): KHM-1B
-- 'KHM-1B' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006607
-Label(s): Kasumi-1
-- 'Kasumi-1' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002313
-Label(s): PLB985
-- 'PLB985' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0002322
-Label(s): RPMI8226
-- 'RPMI8226' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_1000395
-Label(s): Nevus of Ito
-- 'Nevus of Ito' SubClassOf 'disease shares features of' some 'Nevus of Ota'
-+ 'Nevus of Ito' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Nevus of Ota'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006583
-Label(s): HNT-34
-- 'HNT-34' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006572
-Label(s): EJM
-- 'EJM' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006530
-Label(s): 5T33MM
-- '5T33MM' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011817
-Label(s): coronary heart disease, susceptibility to, 1
-- 'coronary heart disease, susceptibility to, 1' SubClassOf 'predisposes towards' some 'coronary artery disease'
-+ 'coronary heart disease, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006615
-Label(s): KMS-26
-- 'KMS-26' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/CL_0002063
-Label(s): type II pneumocyte
-- 'type II pneumocyte' SubClassOf 'epithelial cell'
-+ 'type II pneumocyte' SubClassOf 'respiratory epithelial cell'
-
-Class: http://purl.obolibrary.org/obo/CL_0002062
-Label(s): type I pneumocyte
-- 'type I pneumocyte' SubClassOf 'epithelial cell'
-+ 'type I pneumocyte' SubClassOf 'respiratory epithelial cell'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0011875
-Label(s): epilepsy, idiopathic generalized, susceptibility to, 11
-- 'epilepsy, idiopathic generalized, susceptibility to, 11' SubClassOf 'predisposes towards' some 'generalised epilepsy'
-+ 'epilepsy, idiopathic generalized, susceptibility to, 11' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0043195
-Label(s): Rubinstein Taybi like syndrome
-- 'Rubinstein Taybi like syndrome' SubClassOf 'disease shares features of' some 'Rubinstein-Taybi syndrome'
-+ 'Rubinstein Taybi like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Rubinstein-Taybi syndrome'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0022372
-Label(s): ut7 cell
-- 'ut7 cell' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006491
-Label(s): SR-786
-- 'SR-786' SubClassOf 'lymphoma or leukaemia cell line'
-- 'SR-786' SubClassOf 'Homo sapiens cell line'
-- 'SR-786' SubClassOf 'bearer_of' some 'lymphoma'
-- 'SR-786' SubClassOf 'has quality' some 'male'
-- 'SR-786' SubClassOf 'derives_from' some
-('T cell' and ('part_of' some
-('blood' and ('part_of' some 'Homo sapiens'))))
-+ 'SR-786' SubClassOf http://www.w3.org/2002/07/owl#Thing
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006473
-Label(s): PL-21
-- 'PL-21' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100232
-Label(s): psoriatic arthritis, susceptibility to
-- 'psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'psoriatic arthritis')
-- 'psoriatic arthritis, susceptibility to' SubClassOf 'predisposes towards' some 'psoriatic arthritis'
-+ 'psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'psoriatic arthritis')
-+ 'psoriatic arthritis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'psoriatic arthritis'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0009071
-Label(s): malignant hyperthermia, susceptibility to, 1
-- 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia'
-+ 'malignant hyperthermia, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant hyperthermia of anesthesia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100242
-Label(s): glioma susceptibility
-- 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malignant glioma')
-- 'glioma susceptibility' SubClassOf 'predisposes towards' some 'malignant glioma'
-+ 'glioma susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant glioma'
-+ 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'malignant glioma')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0010853
-Label(s): Helicobacter pylori infection, susceptibility to
-- 'Helicobacter pylori infection, susceptibility to' SubClassOf 'predisposes towards' some 'Helicobacter pylori infectious disease'
-+ 'Helicobacter pylori infection, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Helicobacter pylori infectious disease'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0024462
-Label(s): susceptibility to familial cutaneous melanoma
-- 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'cutaneous melanoma')
-- 'susceptibility to familial cutaneous melanoma' SubClassOf 'predisposes towards' some 'cutaneous melanoma'
-+ 'susceptibility to familial cutaneous melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'cutaneous melanoma'
-+ 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'cutaneous melanoma')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0001328
-Label(s): thyroid hormone resistance syndrome
-- 'thyroid hormone resistance syndrome' SubClassOf 'disease has major feature' some 'Abnormal thyroid-stimulating hormone level'
-+ 'thyroid hormone resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Abnormal thyroid-stimulating hormone level'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0007966
-Label(s): susceptibility to uveal melanoma
-- 'susceptibility to uveal melanoma' SubClassOf 'predisposes towards' some 'Uveal Melanoma'
-- 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Uveal Melanoma')
-+ 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Uveal Melanoma')
-+ 'susceptibility to uveal melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Uveal Melanoma'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006293
-Label(s): SGC-7901
-- 'SGC-7901' SubClassOf 'cultured cell'
-+ 'SGC-7901' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006289
-Label(s): OCI-AML3
-- 'OCI-AML3' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006287
-Label(s): Mono Mac 6
-- 'Mono Mac 6' SubClassOf 'cancer cell line'
-
-Class: http://www.ebi.ac.uk/efo/EFO_1000014
-Label(s): acidosis
-- 'acidosis' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Acidosis')
-- 'acidosis' SubClassOf 'disease has major feature' some 'Acidosis'
-+ 'acidosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Acidosis'
-+ 'acidosis' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Acidosis')
-
-Class: http://purl.obolibrary.org/obo/MONDO_0001437
-Label(s): pulmonary alveolar proteinosis
-- 'pulmonary alveolar proteinosis' SubClassOf 'disease has major feature' some 'Intraalveolar phospholipid accumulation'
-+ 'pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Intraalveolar phospholipid accumulation'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012953
-Label(s): colorectal cancer, susceptibility to, 10
-- 'colorectal cancer, susceptibility to, 10' SubClassOf 'predisposes towards' some 'colorectal cancer'
-+ 'colorectal cancer, susceptibility to, 10' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012933
-Label(s): breast-ovarian cancer, familial, susceptibility to, 2
-- 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome'
-+ 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hereditary breast ovarian cancer syndrome'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0030434
-Label(s): epilepsy, idiopathic generalized, susceptibility to, 18
-- 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf 'predisposes towards' some 'generalised epilepsy'
-+ 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0018307
-Label(s): neurodegeneration with brain iron accumulation
-- 'neurodegeneration with brain iron accumulation' SubClassOf 'disease has major feature' some 'dementia'
-+ 'neurodegeneration with brain iron accumulation' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'dementia'
-
-Class: http://www.ebi.ac.uk/efo/EFO_0006552
-Label(s): CMA-03
-- 'CMA-03' SubClassOf 'cancer cell line'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012893
-Label(s): osteoarthritis susceptibility 5
-- 'osteoarthritis susceptibility 5' SubClassOf 'predisposes towards' some 'osteoarthritis'
-+ 'osteoarthritis susceptibility 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'osteoarthritis'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012843
-Label(s): epilepsy, childhood absence, susceptibility to, 5
-- 'epilepsy, childhood absence, susceptibility to, 5' SubClassOf 'predisposes towards' some 'childhood absence epilepsy'
-+ 'epilepsy, childhood absence, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'childhood absence epilepsy'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0100555
-Label(s): IgA nephropathy, susceptibility to
-- 'IgA nephropathy, susceptibility to' SubClassOf 'predisposes towards' some 'IGA glomerulonephritis'
-- 'IgA nephropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'IGA glomerulonephritis')
-+ 'IgA nephropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'IGA glomerulonephritis')
-+ 'IgA nephropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'IGA glomerulonephritis'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0001566
-Label(s): hypercalcemia disease
-- 'hypercalcemia disease' SubClassOf 'disease has major feature' some 'Hypercalcemia'
-+ 'hypercalcemia disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypercalcemia'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0012820
-Label(s): colorectal cancer, susceptibility to, 3
-- 'colorectal cancer, susceptibility to, 3' SubClassOf 'predisposes towards' some 'colorectal cancer'
-+ 'colorectal cancer, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0958238
-Label(s): hyperemesis gravidarum, susceptibility to
-- 'hyperemesis gravidarum, susceptibility to' SubClassOf 'predisposes towards' some 'hyperemesis gravidarum'
-+ 'hyperemesis gravidarum, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hyperemesis gravidarum'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0007704
-Label(s): osteoarthritis susceptibility 2
-- 'osteoarthritis susceptibility 2' SubClassOf 'predisposes towards' some 'osteoarthritis'
-+ 'osteoarthritis susceptibility 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'osteoarthritis'
-
-Class: http://purl.obolibrary.org/obo/MONDO_0001627
-Label(s): dementia
-- 'dementia' EquivalentTo 'cognitive disorder' and ('disease has major feature' some 'Dementia')
-- 'dementia' SubClassOf 'disease has major feature' some 'Dementia'
-+ 'dementia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dementia'
-+ 'dementia' EquivalentTo 'cognitive disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dementia')
+Class: http://purl.obolibrary.org/obo/MONDO_0002009
+Label(s): major depressive disorder
+- 'major depressive disorder' SubClassOf 'depressive disorder'
++ 'major depressive disorder' SubClassOf 'depressive disorder'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0003761
+Label(s): unipolar depression
+- 'unipolar depression' SubClassOf 'depressive disorder'
++ 'unipolar depression' SubClassOf http://www.w3.org/2002/07/owl#Thing
+
+Class: http://purl.obolibrary.org/obo/HP_0002514
+Label(s): Cerebral calcification
+- 'Cerebral calcification' SubClassOf 'Abnormal brain morphology'
++ 'Cerebral calcification' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://purl.obolibrary.org/obo/HP_0002500
+Label(s): Abnormal cerebral white matter morphology
+- 'Abnormal cerebral white matter morphology' SubClassOf 'Abnormal brain morphology'
++ 'Abnormal cerebral white matter morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://purl.obolibrary.org/obo/HP_0002185
+Label(s): Neurofibrillary tangles
+- 'Neurofibrillary tangles' SubClassOf 'Abnormal brain morphology'
++ 'Neurofibrillary tangles' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://purl.obolibrary.org/obo/HP_0002140
+Label(s): Ischemic stroke
++ 'Ischemic stroke' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://purl.obolibrary.org/obo/HP_0002134
+Label(s): Abnormal basal ganglia morphology
+- 'Abnormal basal ganglia morphology' SubClassOf 'Abnormal brain morphology'
++ 'Abnormal basal ganglia morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://purl.obolibrary.org/obo/HP_0002123
+Label(s): Generalized myoclonic seizure
+- 'Generalized myoclonic seizure' SubClassOf 'Seizure'
++ 'Generalized myoclonic seizure' SubClassOf http://purl.obolibrary.org/obo/HP_0002197
+
+Class: http://purl.obolibrary.org/obo/HP_0002121
+Label(s): Generalized non-motor (absence) seizure
+- 'Generalized non-motor (absence) seizure' SubClassOf 'Seizure'
++ 'Generalized non-motor (absence) seizure' SubClassOf http://purl.obolibrary.org/obo/HP_0002197
+
+Class: http://purl.obolibrary.org/obo/HP_0002059
+Label(s): Cerebral atrophy
++ 'Cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://purl.obolibrary.org/obo/HP_0007313
+Label(s): Cerebral degeneration
++ 'Cerebral degeneration' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://purl.obolibrary.org/obo/MONDO_0009459
+Label(s): channelopathy-associated congenital insensitivity to pain, autosomal recessive
++ 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022837
+
+Class: http://purl.obolibrary.org/obo/HP_0000252
+Label(s): Microcephaly
+- 'Microcephaly' SubClassOf 'Abnormal brain morphology'
++ 'Microcephaly' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://purl.obolibrary.org/obo/HP_0009717
+Label(s): Cortical tubers
+- 'Cortical tubers' SubClassOf 'Abnormal brain morphology'
++ 'Cortical tubers' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://purl.obolibrary.org/obo/HP_0032059
+Label(s): Mild malformation of cortical development
+- 'Mild malformation of cortical development' SubClassOf 'Abnormal brain morphology'
++ 'Mild malformation of cortical development' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://www.ebi.ac.uk/efo/EFO_0006340
+Label(s): mean arterial pressure
++ 'mean arterial pressure' SubClassOf 'cardiovascular measurement'
+
+Class: http://purl.obolibrary.org/obo/HP_0006872
+Label(s): Cerebral hypoplasia
+- 'Cerebral hypoplasia' SubClassOf 'Abnormal brain morphology'
++ 'Cerebral hypoplasia' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://www.ebi.ac.uk/efo/EFO_0007453
+Label(s): postpartum depression
+- 'postpartum depression' SubClassOf 'unipolar depression'
++ 'postpartum depression' SubClassOf 'major depressive disorder'
+
+Class: http://purl.obolibrary.org/obo/HP_0001331
+Label(s): Absent septum pellucidum
+- 'Absent septum pellucidum' SubClassOf 'Abnormal brain morphology'
++ 'Absent septum pellucidum' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://purl.obolibrary.org/obo/HP_0011170
+Label(s): Generalized myoclonic-atonic seizure
+- 'Generalized myoclonic-atonic seizure' SubClassOf 'Seizure'
++ 'Generalized myoclonic-atonic seizure' SubClassOf http://purl.obolibrary.org/obo/HP_0002197
+
+Class: http://purl.obolibrary.org/obo/MONDO_0013459
+Label(s): osteogenesis imperfecta type 10
++ 'osteogenesis imperfecta type 10' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836
+
+Class: http://purl.obolibrary.org/obo/MONDO_0030714
+Label(s): osteogenesis imperfecta, IIA 22
++ 'osteogenesis imperfecta, IIA 22' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009854
+Label(s): treatment resistant depression
+- 'treatment resistant depression' SubClassOf 'unipolar depression'
++ 'treatment resistant depression' SubClassOf 'major depressive disorder'
+
+Class: http://purl.obolibrary.org/obo/MONDO_0013051
+Label(s): autosomal recessive cutis laxa type 2B
++ 'autosomal recessive cutis laxa type 2B' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836
+
+Class: http://purl.obolibrary.org/obo/MONDO_0018163
+Label(s): autosomal recessive cutis laxa type 2A
++ 'autosomal recessive cutis laxa type 2A' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836
+
+Class: http://www.ebi.ac.uk/efo/EFO_0009332
+Label(s): executive function measurement
+- 'executive function measurement' SubClassOf 'is_about' some 'unipolar depression'
++ 'executive function measurement' SubClassOf 'is_about' some 'major depressive disorder'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0700023
+Label(s): bleeding diathesis due to thromboxane synthesis deficiency
+- 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type'
++ 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type'
+
+Class: http://purl.obolibrary.org/obo/HP_0007236
+Label(s): Recurrent subcortical infarcts
+- 'Recurrent subcortical infarcts' SubClassOf 'Abnormal brain morphology'
++ 'Recurrent subcortical infarcts' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://purl.obolibrary.org/obo/MONDO_0030861
+Label(s): osteogenesis imperfecta, type 21
++ 'osteogenesis imperfecta, type 21' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836
+
+Class: http://purl.obolibrary.org/obo/HP_0002352
+Label(s): Leukoencephalopathy
+- 'Leukoencephalopathy' SubClassOf 'Abnormal brain morphology'
++ 'Leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
+
+Class: http://www.ebi.ac.uk/efo/EFO_0006335
+Label(s): systolic blood pressure
++ 'systolic blood pressure' SubClassOf 'cardiovascular measurement'
+
+Class: http://www.ebi.ac.uk/efo/EFO_0006336
+Label(s): diastolic blood pressure
++ 'diastolic blood pressure' SubClassOf 'cardiovascular measurement'
+
+Class: http://purl.obolibrary.org/obo/HP_0002536
+Label(s): Abnormal cortical gyration
+- 'Abnormal cortical gyration' SubClassOf 'Abnormal brain morphology'
++ 'Abnormal cortical gyration' SubClassOf http://purl.obolibrary.org/obo/HP_0002060
----------------------------------
@@ -2256,15 +647,7 @@ Label(s): dementia
@Classes deleted from this version
-Class: http://purl.obolibrary.org/obo/MONDO_0000365
-Label(s): primary congenital glaucoma
-+ 'primary congenital glaucoma' SubClassOf 'congenital glaucoma'
-Class: http://purl.obolibrary.org/obo/MONDO_0002839
-Label(s): leather-bottle stomach
-+ 'leather-bottle stomach' SubClassOf 'cancer-related condition'
-+ 'leather-bottle stomach' SubClassOf 'stomach disease'
-+ 'leather-bottle stomach' SubClassOf 'disease has location' some 'wall of stomach'
----------------------------------
4. Scope of the Ontology
diff --git a/efo-base.owl b/efo-base.owl
index a554dda0..8af09f75 100644
--- a/efo-base.owl
+++ b/efo-base.owl
@@ -27,7 +27,7 @@
xmlns:patterns="http://www.co-ode.org/patterns#"
xmlns:ncbitaxon="http://purl.obolibrary.org/obo/ncbitaxon#">
-
+
1.4
Catherine Leroy
Dani Welter
@@ -52,8 +52,8 @@
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
- 2024-08-14
- 3.68.0
+ 2024-08-15
+ 3.69.0
diff --git a/src/ontology/reports/basic-report.tsv b/src/ontology/reports/basic-report.tsv
index a507f6d3..98f67601 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." "VHOG:0000269 EMAPA:16170 ZFA:0000080 EHDAA:667 TAO:0000080 EHDAA2:0002083 EFO:0003484"
+ "Cranial neural crest which gives rise to the trigeminal ganglion." "EFO:0003484 VHOG:0000269 EMAPA:16170 ZFA:0000080 EHDAA:667 TAO:0000080 EHDAA2:0002083"
"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"
@@ -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." "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"
+ "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"
"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."
@@ -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 MONDO:0000494 HP:0030760 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 HP:0030760 MONDO:0000494 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"
@@ -1360,7 +1360,7 @@
"MEDGEN:1842485 UMLS:C5679781 GARD:21046 Orphanet:276212"
"CS57655 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158679&type=germplasm"
"Quantification of the amount of 13-HODE + 9-HODE in a sample." "PMID:35347128"
- "Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated as AS." "MeSH:D001024 DOID:1712 SNOMEDCT:420503003 NCIt:C64938 OMIM:109730 MedDRA:10002906 SNOMEDCT:60573004 NCIt:C50462"
+ "Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated as AS." "MeSH:D001024 SNOMEDCT:420503003 DOID:1712 NCIt:C64938 OMIM:109730 MedDRA:10002906 SNOMEDCT:60573004 NCIt:C50462"
"Quantification of glycodeoxycholate levels in a sample." "PMID:23823483"
"Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas." "MONDO:0006677 MEDGEN:2243 UMLS:C0005403 MeSH:D001655 MESH:D001655 DOID:12237"
"The amount of a calcyphosin when measured in blood serum."
@@ -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]." "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"
+ "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"
"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"
@@ -2539,7 +2539,7 @@
"Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids." "GTR:AN0200342 SCTID:236381000 GTR:AN0096391 GTR:AN0255485 GTR:AN0096395 NCIT:C122798 MEDGEN:588369 UMLS:C0403397"
"The amount of a oxysterol-binding protein-related protein 9 when measured in blood serum."
"A steroid sulfate that is 17alpha-hydroxypregnenolone in which the hydroxy hydrogen at position 3 has been replaced by a sulfo group." "PMID:14264252 PMID:4054406 FooDB:FDB022032 PMID:17298837 PMID:26239050 PMID:34324429 PMID:14163950 PMID:12642469 PMID:12829005 PMID:4076471 PMID:3208699 LIPID_MAPS_instance:LMST05020021 Reaxys:5774387 HMDB:HMDB0000416 PMID:28472487 PMID:3260857 PMID:14625002 CAS:28901-70-4"
- "a serious, potentially life-threatening cellulitis,or connective tissue infection, of the floor of the mouth, usually occurring in adults with concomitant dental infections and if left untreated, may obstruct the airways, necessitating tracheotomy." "MONDO:0006576 MEDGEN:44205 MESH:D008158 ICD9:528.3 DOID:4558 Wikipedia:Ludwig's_angina UMLS:C0024081 SCTID:196542004"
+ "a serious, potentially life-threatening cellulitis,or connective tissue infection, of the floor of the mouth, usually occurring in adults with concomitant dental infections and if left untreated, may obstruct the airways, necessitating tracheotomy." "MEDGEN:44205 MESH:D008158 ICD9:528.3 DOID:4558 Wikipedia:Ludwig's_angina UMLS:C0024081 SCTID:196542004 MONDO:0006576"
"An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus." "MEDGEN:275556 DOID:5916 UMLS:C1519855 NCIT:C40170 DOID:5917"
"A site from which a sample, i.e. a statistically representative of the whole, is extracted from the whole. e.g. a liver sample"
@@ -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 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"
+ "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"
"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 VHOG:0000448 NCIT:C12269 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 NCIT:C12269 VHOG:0000448 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."
@@ -4758,7 +4758,7 @@
"Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration." "UMLS:C4025298"
"Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons." "BTO:0000143 MAT:0000504 EV:0100247 MA:0000210 FMA:67947"
- "A 3-hydroxy steroid that is 17beta-estradiol in which the 7alpha hydrogen has been replaced by a nonyl group in which one of the hydrogens of the terminal methyl has been replaced by a (4,4,5,5,5-pentafluoropentyl)sulfinyl group. An estrogen receptor antagonist, it is used in the treatment of breast cancer." "Wikipedia:Fulvestrant KEGG:D01161 NCIt:C1379 PMID:18683044 MeSH:C070081 PMID:21699443 SNOMEDCT:404845006 CAS:129453-61-8 PMID:25720568 PMID:19369092 SNOMEDCT:385519002 LINCS:LSM-6504 PMID:21319872 Drug_Central:1255 DrugBank:DB00947"
+ "A 3-hydroxy steroid that is 17beta-estradiol in which the 7alpha hydrogen has been replaced by a nonyl group in which one of the hydrogens of the terminal methyl has been replaced by a (4,4,5,5,5-pentafluoropentyl)sulfinyl group. An estrogen receptor antagonist, it is used in the treatment of breast cancer." "Wikipedia:Fulvestrant KEGG:D01161 NCIt:C1379 PMID:18683044 MeSH:C070081 PMID:21699443 SNOMEDCT:404845006 SNOMEDCT:385519002 CAS:129453-61-8 PMID:25720568 PMID:19369092 LINCS:LSM-6504 PMID:21319872 Drug_Central:1255 DrugBank:DB00947"
"Quantification of the amount of oxaloacetic acid in a sample." "PMID:35995766"
"Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax."
@@ -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 MONDO:0000494 HP:0030760 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 HP:0030760 MONDO:0000494 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."
@@ -6003,7 +6003,7 @@
"ICD10:Q87.5 MeSH:C537493 UMLS:C1858084 OMIM:604841"
- "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene." "MedDRA:10024394 UMLS:C0022782 ICD10:N48.0 ICD9:607.0 MeSH:D052798 SCTID:3323003 MONDO:0006830 DOID:8738 MEDGEN:44036 SNOMEDCT:3323003 NCIT:C3151"
+ "A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene." "UMLS:C0022782 MedDRA:10024394 ICD10:N48.0 ICD9:607.0 MeSH:D052798 SCTID:3323003 MONDO:0006830 DOID:8738 MEDGEN:44036 SNOMEDCT:3323003 NCIT:C3151"
"DOID:0070066 MEDGEN:899880 UMLS:C4225352 Orphanet:457284 OMIM:616362 GARD:17803"
@@ -6572,7 +6572,7 @@
"X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." "ICD10:D64.0 OMIM:300751 MeSH:C536761"
"UMLS:C5543538 MEDGEN:1781627 OMIM:619373"
"Quantification of the amount of 11(12)-EET in a sample." "PMID:35995766"
- "GARD:20372 MEDGEN:107510 MESH:D020967 MedDRA:10028658 UMLS:C0553604 Orphanet:206970"
+ "Orphanet:206970 GARD:20372 MEDGEN:107510 MESH:D020967 MedDRA:10028658 UMLS:C0553604"
"A measure of the thickness of the ganglion cell inner plexiform layer (GCIPL). It is typically measured using optical imaging methods such as optical coherence tomography (OCT). The thickness of the ganglion cell complex (GCC), the collective name for the retinal nerve fibre layer and the ganglion cell inner plexiform layer, is one of the biomarkers used in the diagnosis of primary open angle glaucoma (POAG)." "PMID:33979322"
"Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies." "DOID:10034 ICD9:367.5 UMLS:C0152198 SCTID:54552008 MEDGEN:508925"
"ICD10:Q82.8"
@@ -7543,7 +7543,7 @@
"OMIM:613076 ICD10:G71.3"
"Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." "MEDGEN:66315 Orphanet:93296 UMLS:C0220685 GARD:8713 MESH:C536017 OMIM:200610 DOID:0080056 NANDO:2201345"
"A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs." "GARD:17105 OMIM:612237 ONCOTREE:EMCHS NCIT:C27502 SCTID:404079008 MESH:C563195 MEDGEN:220892 DOID:6496 ICD9:171.9 UMLS:C1275278 Orphanet:209916"
- "That portion of the spine comprising the cervical vertebrae. The neck area of the spine." "FMA:24138 EHDAA2:0000238 EMAPA:17215 BTO:0004148 MA:0003154 EHDAA:5051 NCIT:C69313 AAO:0000092 SCTID:260488005 UMLS:C0728985"
+ "That portion of the spine comprising the cervical vertebrae. The neck area of the spine." "EHDAA2:0000238 EMAPA:17215 BTO:0004148 MA:0003154 EHDAA:5051 NCIT:C69313 AAO:0000092 SCTID:260488005 UMLS:C0728985 FMA:24138"
"Peripheral neuropathy affecting the sensory nerves." "UMLS:C0151313 SNOMEDCT_US:95662005"
"Human acute myelomonocytic leukemia cell line with FLT3 ITD" "PMID:1568450 RRID:CVCL_A425"
@@ -7990,7 +7990,7 @@
"Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males." "UMLS:C0342474 SCTID:44231009 OMIM:201710 GARD:1465 Orphanet:90790 MEDGEN:83341"
"Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen." "NANDO:2200672 MEDGEN:749036 OMIM:202400 UMLS:C2584774 GARD:5761 NORD:739 DOID:2236 SCTID:154818001 Orphanet:98880 NCIT:C98130 MESH:D000347"
- "A diether consisting of pentane-1,5-diol in which both hydroxyl hydrogens have been replaced by 4-amidinophenyl groups. A trypanocidal drug that is used for treatment of cutaneous leishmaniasis and Chagas disease." "PMID:7690919 PMID:26903605 PMID:27600039 CiteXplore:15711592 PMID:28263303 PMID:27164533 PMID:10415905 PMID:27214074 Beilstein:3159790 PMID:26824946 ChEMBL:103965 SNOMEDCT:372699006 Patent:US2008214569 PDBeChem:PNT PMID:20144237 ChemIDplus:100-33-4 PMID:26648589 DrugBank:DB00738 PMID:11438428 PMID:26344166 CiteXplore:19966562 SNOMEDCT:31692006 PMID:26418240 CiteXplore:22327112 CiteXplore:14603035 PMID:26117647 PMID:27135970 Drug_Central:2090 PMID:26052915 NCIt:C731 PMID:15711592 PMID:27729250 PMID:26734860 PMID:22093811 PMID:27353022 Wikipedia:Pentamidine PMID:10917591 PMID:22046004 Patent:US7115665 CiteXplore:18971316 PMID:26938448 PMID:26606757 PMID:11584934 PMID:22327112 Patent:US2006235001 PMID:26882015 PMID:27297108 PMID:28074607 HMDB:HMDB0014876 KEGG COMPOUND:100-33-4 PMID:26431253 CiteXplore:22093811 PMID:28167598 KEGG:C07420 KEGG COMPOUND:C07420 PMID:22200378 PMID:27357655 PMID:26295040 Reaxys:3159790 KEGG:D08333 Patent:US2008167296 PMID:19966562 PMID:18346045 CiteXplore:22200378 Patent:EP975608 Patent:GB507565 PMID:26828608 PMID:26515653 CiteXplore:22046004 KEGG DRUG:D08333 PMID:7542607 PMID:20599360 ChemIDplus:3159790 PMID:8841838 PMID:27011917 PMID:14603035 Patent:US2394003 MeSH:D010419 CiteXplore:11438428 PMID:18971316 LINCS:LSM-4540 CAS:100-33-4"
+ "A diether consisting of pentane-1,5-diol in which both hydroxyl hydrogens have been replaced by 4-amidinophenyl groups. A trypanocidal drug that is used for treatment of cutaneous leishmaniasis and Chagas disease." "PMID:7690919 PMID:26903605 PMID:27600039 CiteXplore:15711592 PMID:28263303 PMID:27164533 PMID:10415905 PMID:27214074 Beilstein:3159790 PMID:26824946 ChEMBL:103965 SNOMEDCT:372699006 Patent:US2008214569 PDBeChem:PNT PMID:20144237 ChemIDplus:100-33-4 PMID:26648589 DrugBank:DB00738 PMID:11438428 PMID:26344166 CiteXplore:19966562 SNOMEDCT:31692006 PMID:26418240 CiteXplore:22327112 CiteXplore:14603035 PMID:26117647 PMID:27135970 Drug_Central:2090 PMID:26052915 NCIt:C731 PMID:15711592 PMID:27729250 PMID:26734860 PMID:22093811 PMID:27353022 Wikipedia:Pentamidine PMID:10917591 PMID:22046004 Patent:US7115665 CiteXplore:18971316 PMID:26938448 PMID:26606757 PMID:11584934 Patent:US2006235001 PMID:22327112 PMID:26882015 PMID:27297108 PMID:28074607 HMDB:HMDB0014876 KEGG COMPOUND:100-33-4 PMID:26431253 CiteXplore:22093811 PMID:28167598 KEGG:C07420 KEGG COMPOUND:C07420 PMID:22200378 PMID:27357655 PMID:26295040 Reaxys:3159790 KEGG:D08333 Patent:US2008167296 PMID:19966562 PMID:18346045 CiteXplore:22200378 Patent:EP975608 Patent:GB507565 PMID:26828608 PMID:26515653 CiteXplore:22046004 KEGG DRUG:D08333 PMID:7542607 PMID:20599360 ChemIDplus:3159790 PMID:8841838 PMID:27011917 PMID:14603035 Patent:US2394003 MeSH:D010419 CiteXplore:11438428 PMID:18971316 LINCS:LSM-4540 CAS:100-33-4"
"The amount of a coxsackievirus and adenovirus receptor when measured in blood serum."
"Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells." "EFO:1000953 UMLS:C0206722 MONDO:0006773 MESH:D018309 MEDGEN:104925"
@@ -8193,7 +8193,7 @@
"Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." "MEDGEN:337518 Orphanet:3322 MESH:C536068 UMLS:C1846142 SCTID:707276009 GARD:346"
"A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex." "UMLS:C4020838 UMLS:C3150077"
"Speech development, referring to the process of making sounds, that is absent or significantly behind developmental milestones."
- "Any of the smallest blood vessels connecting arterioles with venules." "CALOHA:TS-2006 EV:0100035 EMAPA:35198 UMLS:C0935624 MA:0000065 BTO:0002045 FMA:63194 NCIT:C12685 MESH:D002196 AAO:0010252 XAO:0000116 EFO:0001906 Wikipedia:Capillary VHOG:0001253 NLXANAT:090902 TAO:0005250 ZFA:0005250"
+ "Any of the smallest blood vessels connecting arterioles with venules." "CALOHA:TS-2006 EV:0100035 EMAPA:35198 UMLS:C0935624 MA:0000065 BTO:0002045 NCIT:C12685 FMA:63194 MESH:D002196 AAO:0010252 XAO:0000116 EFO:0001906 Wikipedia:Capillary VHOG:0001253 NLXANAT:090902 TAO:0005250 ZFA:0005250"
"A monocyte that responds rapidly to microbial stimuli by secreting cytokines and antimicrobial factors and which is characterized by high expression of CCR2 in both rodents and humans, negative for the lineage markers CD3, CD19, and CD20, and of larger size than non-classical monocytes."
"The smallest division of the artery located between the muscular arteries and the capillaries[GO]." "FMA:63182 MESH:D001160 MA:0000063 ZFA:0005255 VHOG:0001763 TAO:0002138 UMLS:C0003847 Wikipedia:Arteriole NCIT:C12672 EMAPA:35146 SCTID:337724002 BTO:0001997 AAO:0010253"
@@ -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." "MONDO:0006256 NCIT:C9245 UMLS:C0853879 ONCOTREE:BRCA EFO:1000307 MEDGEN:163435 SCTID:713609000"
+ "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"
"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 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"
+ "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"
"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)]." "RRID:CVCL_V272 CLO:0013998"
+ "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"
"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"
@@ -9658,7 +9658,7 @@
"Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." "DOID:0060006 DOID:0090012 Orphanet:275 GARD:9987 UMLS:C1865370 OMIM:602450 MEDGEN:355454 SCTID:715982006"
"Quantification of phosphatidylcholine diacyl C42:1 measurement in a sample." "PMID:26068415"
- "The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient." "EV:0100391 CALOHA:TS-0860 ZFA:0005294 GAID:434 TAO:0005294 FMA:15628 BTO:0000761 Wikipedia:Collecting_tubule MESH:D007685 MA:0000371 SCTID:28202009 EMAPA:28407"
+ "The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient." "CALOHA:TS-0860 ZFA:0005294 GAID:434 TAO:0005294 FMA:15628 BTO:0000761 Wikipedia:Collecting_tubule MESH:D007685 MA:0000371 SCTID:28202009 EMAPA:28407 EV:0100391"
"A benign or malignant neoplasm arising from the sweat glands." "MeSH:D013544 ICD9:239.2 MESH:D013544 ICDO:8400/1 DOID:2664 UMLS:C0038987 SCTID:126490003 MONDO:0002381 MEDGEN:21039 NCIT:C3398 NCIt:C3398 SNOMEDCT:126490003"
"Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have a large spleen, and small kidneys. They have whitish skin. Like So-Eum, many of this type are skinny." "Wikipedia:Sasang_typology PMID:25888059"
@@ -9808,7 +9808,7 @@
"Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." "OMIM:609055 Orphanet:228357 MESH:C537953 GARD:6618 UMLS:C1836841 DOID:0110733 MEDGEN:332304"
"Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream." "MedDRA:10066899 NCIt:C99537 NCIT:C99537 MEDGEN:348285 MONDO:0005399 ICD10:I74 ICD10:I82 UMLS:C1861172 MESH:D054556 MeSH:D054556"
- "BTO:0003761 NCIt:C117176 RRID:CVCL_0535 CLO:0009093 MCC:0000434"
+ "BTO:0003761 RRID:CVCL_0535 CLO:0009093 MCC:0000434 NCIt:C117176"
"An adenoid cystic carcinoma that affects the ethmoid sinus." "NCIT:C6238 MONDO:0006201 UMLS:C1333473 EFO:1000246 DOID:2764 MEDGEN:232471"
"A triglyceride in which the three acyl groups contain a total of 50 carbons and 4 double bonds."
"A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." "MedDRA:10008927 DOID:1678 ICD9:595.1 MeSH:D018856 SNOMEDCT:197834003"
@@ -10007,7 +10007,7 @@
"Frequency of chromatid-type chromosomal aberrations in human peripheral blood (typically resulting in damage to a single chromatid)." "PMID:30368896"
"An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning." "MeSH:D001010 Wikipedia:Separation_anxiety_disorder MONDO:0001098 SCTID:11806006 MedDRA:10040045 MESH:D001010 UMLS:C1527281 NCIt:C35014 DOID:10685 UMLS:C0003477 MEDGEN:1999 NCIT:C35014"
"An adenomyoma characterized by the presence of marked glandular architectural complexity." "MEDGEN:266248 NCIT:C6895 UMLS:C1300347 DOID:4993"
- "Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." "MeSH:D001024 DOID:1712 SNOMEDCT:420503003 NCIt:C64938 OMIM:109730 MedDRA:10002906 SNOMEDCT:60573004 NCIt:C50462"
+ "Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS." "MeSH:D001024 SNOMEDCT:420503003 DOID:1712 NCIt:C64938 OMIM:109730 MedDRA:10002906 SNOMEDCT:60573004 NCIt:C50462"
"The amount of a fatty-acid amide hydrolase 2 when measured in blood serum."
"Human fibroblast cell line" "RRID:CVCL_RW39"
@@ -10433,7 +10433,7 @@
"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." "UMLS:C0280328 SCTID:707427000 NCIT:C8188 DOID:3752 MEDGEN:76097"
+ "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"
"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."
@@ -12369,7 +12369,7 @@
"EV:0300051 MAT:0000402 XAO:1000010"
"A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." "MEDGEN:233228 EFO:1000393 MONDO:0006316 NCIT:C6963 UMLS:C1334953"
- "A subdivision of the pectoral complex consisting of the structures in the region of the shoulder joint (which connects the humerus, scapula and clavicle)." "EHDAA2:0001834 SCTID:361103004 EMAPA:17421 GAID:60 MA:0000038 NCIT:C25203 UMLS:C0037004 CALOHA:TS-2229 galen:Shoulder Wikipedia:Shoulder EHDAA:4180 FMA:25202 VHOG:0000342 MESH:D012782 EFO:0003068 EHDAA:6228"
+ "A subdivision of the pectoral complex consisting of the structures in the region of the shoulder joint (which connects the humerus, scapula and clavicle)." "SCTID:361103004 EMAPA:17421 GAID:60 MA:0000038 NCIT:C25203 UMLS:C0037004 CALOHA:TS-2229 galen:Shoulder Wikipedia:Shoulder EHDAA:4180 FMA:25202 VHOG:0000342 MESH:D012782 EFO:0003068 EHDAA:6228 EHDAA2:0001834"
"UMLS:C3806467"
"Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis." "MESH:D011671 UMLS:C0034103 SNOMEDCT:32620007 ICD10CM:K04.0 MONDO:0006937 MEDGEN:19580 NCIt:C52595 MedDRA:10037463 ICD10:K04.0 SCTID:32620007 ICD9:522.0 MeSH:D011671 DOID:11121"
"A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component." "MONDO:0006401 UMLS:C1335894 MEDGEN:277627 NCIT:C35737 EFO:1000514"
@@ -12476,7 +12476,7 @@
"Wikipedia:Aluminum_Hydroxide CAS:21645-51-2 Drug_Central:4250 Gmelin:22216 KEGG:C13391 KEGG:D02859"
- "A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." "SNOMEDCT:430725003 MONDO:0006894 UMLS:C0877149 MEDGEN:164080 SCTID:430725003 MESH:D046788 MeSH:D046788 MedDRA:10049143 DOID:14284"
+ "A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." "SNOMEDCT:430725003 MONDO:0006894 UMLS:C0877149 MEDGEN:164080 SCTID:430725003 MeSH:D046788 MESH:D046788 MedDRA:10049143 DOID:14284"
"A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies)." "GARD:4991 UMLS:C0432221 SCTID:254078005 MESH:C535793 DOID:0112297 Orphanet:93315 MEDGEN:98146 OMIM:184255"
"The amount of a trinucleotide repeat-containing gene 6B protein when measured in blood serum."
@@ -12664,7 +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 NCIT:C113335 UMLS:C0020503 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 MedDRA:10020708 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 MedDRA:10020708 NCIT:C113335 UMLS:C0020503 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 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"
@@ -13762,7 +13762,7 @@
"Quantification of the amount of X-12524 in a sample." "PMID:24816252"
"UMLS:C3150412 MEDGEN:461762 DOID:0112378 OMIM:613151 GARD:18455"
"A zone of skin that is part of a eyelid [Automatically generated definition]." "MA:0001256 FMA:24760 NCIT:C52718 UMLS:C0222088 SCTID:245947005 EMAPA:37536"
- "A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]." "BTO:0000752 MAT:0000443 CALOHA:TS-2102 VHOG:0001249 EFO:0000873 MA:0000138 SCTID:279089004 EMAPA:35532 XAO:0000375 FMA:30315 Wikipedia:Lymphatic_vessel AAO:0011005 MESH:D042601 UMLS:C0229889 NCIT:C33038"
+ "A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]." "NCIT:C33038 BTO:0000752 MAT:0000443 CALOHA:TS-2102 VHOG:0001249 EFO:0000873 MA:0000138 SCTID:279089004 EMAPA:35532 XAO:0000375 FMA:30315 Wikipedia:Lymphatic_vessel AAO:0011005 MESH:D042601 UMLS:C0229889"
"Quantification of the amount of P-selectin glycoprotein ligand 1 in a sample" "PMID:33067605"
"Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations." "NANDO:1200812 DOID:3890 UMLS:C0162565 MESH:D017118 NORD:729 NANDO:2201263 SCTID:234422006 OMIM:176000 NCIT:C84536 Orphanet:79276 MEDGEN:56452 GARD:5732"
"Quantification of carboxylic acid levels in a sample." "PMID:23823483"
@@ -14725,7 +14725,7 @@
"Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal" "MONDO:0005471"
"An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair." "OMIM:278720 SCTID:25784009 UMLS:C2752147 MEDGEN:416702 Orphanet:276255 GARD:5626 DOID:0110844 MESH:C567886 NCIT:C114770"
- "Vein that carries blood away from the liver[ZFA]." "FMA:14337 galen:HepaticVein TAO:0000670 UMLS:C0019155 MA:0003015 Wikipedia:Hepatic_vein ZFA:0000670 EMAPA:19221 AAO:0010216 GAID:534 XAO:0000387 NCIT:C32736 MESH:D006503 SCTID:278191001"
+ "Vein that carries blood away from the liver[ZFA]." "FMA:14337 galen:HepaticVein UMLS:C0019155 TAO:0000670 MA:0003015 Wikipedia:Hepatic_vein ZFA:0000670 EMAPA:19221 AAO:0010216 GAID:534 XAO:0000387 NCIT:C32736 MESH:D006503 SCTID:278191001"
"Quantification of dibromobisphenol A in blood plasma." "KEGG COMPOUND:C13622"
"Any organ that is the primary organ of vocalization behavior. Examples: The laryngeal vocal cord (humans), the syrinx (birds)."
"SNOMEDCT:272784002 SNOMEDCT:46293006 KEGG:D00780 NCIt:C317 Beilstein:6048116 NCIt:C51181 CAS:22260-51-1"
@@ -14957,7 +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:4985 EHDAA:4977 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:4977 EHDAA:4985 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"
@@ -15623,7 +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 MeSH:D014627 DOID:2170"
+ "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"
"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."
@@ -16259,7 +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 MONDO:0009831 ICD9:157.1 DOID:1793 NCIt:C9005"
+ "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"
"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."
@@ -16372,7 +16372,7 @@
"The amount of a deubiquitinase MYSM1 when measured in blood serum."
"The South Texas Assessment of Neurocognition (STAN) is a 90-min primarily computerized battery of standard and experimental neuropsychological tests. The STAN combines software developed for psychological experimentation (E-Prime) and database software (Microsoft ACCESS) with a user interface developed in visual basic to provide a fully automated testing environment which logs subject information, administers tests in a pre-defined order and databases subject performance at the completion of each test."
"ICD10:D55.1"
- "A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK]." "EHDAA2:0001339 TAO:0000138 AAO:0011079 ZFA:0000138 Wikipedia:Otic_placode FMA:293973 EMAPA:16195 NCIT:C34239 VHOG:0000235 XAO:0000223 EHDAA:506 EFO:0003429 UMLS:C1518677"
+ "A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK]." "EHDAA2:0001339 TAO:0000138 AAO:0011079 ZFA:0000138 Wikipedia:Otic_placode FMA:293973 EMAPA:16195 VHOG:0000235 NCIT:C34239 XAO:0000223 EHDAA:506 EFO:0003429 UMLS:C1518677"
"A circulating gamma-delta T cell that expresses RORgamma(t), is CD27-negative and is capable of IL-17 secretion."
"HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)"
"An increased concentration of ammonia in the blood." "UMLS:C0220994 SNOMEDCT_US:9360008"
@@ -17538,7 +17538,7 @@
"Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." "OMIM:603511 ICD10:G71.0"
"Quantification of cholesterol in small VLDL."
"The amount of a serine/threonine-protein kinase N1 when measured in blood serum."
- "A muscle in the forelimb stylopod which in humans has several functions, the most important being to rotate the forearm and to flex the elbow. [WP,unvetted]." "EHDAA:8279 Wikipedia:Biceps_brachii_muscle UMLS:C0559499 NCIT:C32200 EHDAA2:0000167 MA:0002269 EMAPA:19108 VHOG:0000861 FMA:37670 SCTID:265802004 BTO:0003419"
+ "A muscle in the forelimb stylopod which in humans has several functions, the most important being to rotate the forearm and to flex the elbow. [WP,unvetted]." "EHDAA:8279 Wikipedia:Biceps_brachii_muscle UMLS:C0559499 NCIT:C32200 MA:0002269 EHDAA2:0000167 EMAPA:19108 VHOG:0000861 FMA:37670 SCTID:265802004 BTO:0003419"
"Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior." "UMLS:C4022592"