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Create release notes markdown output for diff command #605

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merged 71 commits into from
Mar 14, 2024

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hrshdhgd
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@hrshdhgd hrshdhgd commented Jun 29, 2023

Related to obophenotype/human-phenotype-ontology#9856

Wait to merge until INCATools/kgcl#54 merged and KGCL released

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codecov-commenter commented Jul 5, 2023

Codecov Report

Attention: Patch coverage is 64.48598% with 152 lines in your changes are missing coverage. Please review.

Project coverage is 75.95%. Comparing base (36a0db4) to head (0d66ebc).
Report is 2 commits behind head on main.

Files Patch % Lines
src/oaklib/interfaces/differ_interface.py 70.44% 73 Missing ⚠️
src/oaklib/utilities/writers/change_handler.py 50.00% 53 Missing ⚠️
src/oaklib/io/streaming_markdown_writer.py 21.21% 26 Missing ⚠️

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Additional details and impacted files
@@            Coverage Diff             @@
##             main     #605      +/-   ##
==========================================
- Coverage   76.07%   75.95%   -0.13%     
==========================================
  Files         262      264       +2     
  Lines       30388    30682     +294     
==========================================
+ Hits        23118    23303     +185     
- Misses       7270     7379     +109     

☔ View full report in Codecov by Sentry.
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Made the suggested changes. Also added mapping (changes + addition + deletion)


Classes created: 126
Term
hyper-IgE syndrome 6, autosomal dominant, with recurrent infections (MONDO:0957807)
neuronopathy, distal hereditary motor, autosomal recessive 10 (MONDO:0957876)
leukodystrophy, hypomyelinating, 27 (MONDO:0958018)
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies (MONDO:0957588)
Ziegler-Huang syndrome (MONDO:0957595)
spastic ataxia 10, autosomal recessive (MONDO:0958009)
neuronopathy, distal hereditary motor, autosomal recessive 9 (MONDO:0957874)
developmental dysplasia of the hip 3 (MONDO:0958037)
basal cell nevus syndrome 2 (MONDO:0958189)
neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline (MONDO:0957985)
hemorrhage, intracerebral, susceptibility to (MONDO:0100533)
RAB18 deficiency (MONDO:0700247)
neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction (MONDO:0957791)
glycine encephalopathy 2 (MONDO:0958192)
spondyloepimetaphyseal dysplasia, Guo-Campeau type (MONDO:0958006)
developmental delay, dysmorphic facies, and brain anomalies (MONDO:0957810)
optic atrophy 15 (MONDO:0957935)
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 (MONDO:0957993)
leukoencephalopathy with vanishing white matter 4 (MONDO:0957872)
optic atrophy 14 (MONDO:0957824)
lipodystrophy, familial partial, type 8 (MONDO:0958022)
neutropenia, severe congenital, 11, autosomal dominant (MONDO:0958017)
Houge-Janssens syndrome (MONDO:0957553)
thrombocytopenia 9 (MONDO:0957572)
neutropenia, severe congenital, 10, autosomal recessive (MONDO:0957809)
otosclerosis 11 (MONDO:0957928)
hematuria, benign familial (MONDO:0957317)
Garg-Mishra progeroid syndrome (MONDO:0957953)
leukoencephalopathy with vanishing white matter 5 (MONDO:0957873)
tooth agenesis, selective, with orofacial cleft (MONDO:0100536)
oculopharyngeal muscular dystrophy 1 (MONDO:0958176)
ichthyosis with erythrokeratoderma (MONDO:0957783)
congenital amegakaryocytic thrombocytopenia (MONDO:0800451)
osteogenesis imperfecta, type 23 (MONDO:0957988)
chronic recurrent multifocal osteomyelitis 3 (MONDO:0958177)
diabetes, deafness, developmental delay, and short stature syndrome (MONDO:0957997)
nephrolithiasis, calcium oxalate (MONDO:0957318)
hearing loss, noise-induced, susceptibility to (MONDO:0957560)
prolonged electroretinal response suppression 1 (MONDO:0958180)
immunodeficiency 113 with autoimmunity and autoinflammation (MONDO:0957920)
congenital disorder of glycosylation, type IIb (MONDO:0957820)
C1Q deficiency 1 (MONDO:0958182)
oculopharyngeal muscular dystrophy 2 (MONDO:0958195)
cardiomyopathy, dilated, 2j (MONDO:0957984)
arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (MONDO:0957795)
spermatogenic failure 85 (MONDO:0957584)
optic atrophy 16 (MONDO:0957978)
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis (MONDO:0957400)
leukoencephalopathy with vanishing white matter 2 (MONDO:0957870)
congenital smooth muscle hamartoma, with or without hemihypertrophy (MONDO:0957564)
SMARCB1-deficient kidney medullary carcinoma (MONDO:0100534)
C1Q deficiency 3 (MONDO:0958188)
spastic paraplegia 72b, autosomal recessive (MONDO:0957958)
craniofacial microsomia 2 (MONDO:0958194)
lymphatic malformation 14 (MONDO:0957954)
Alfadhel syndrome (MONDO:0958001)
epilepsy, early-onset, 3, with or without developmental delay (MONDO:0958196)
variegate porphyria, childhood-onset (MONDO:0957577)
Hoxha-Aliu syndrome (MONDO:0958005)
cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay (MONDO:0957563)
spermatogenic failure 88 (MONDO:0957821)
neurodevelopmental disorder with language delay and variable cognitive abnormalities (MONDO:0957779)
Cornelia de Lange syndrome 6 (MONDO:0957921)
Alport syndrome 3b, autosomal recessive (MONDO:0957811)
C1Q deficiency 2 (MONDO:0958187)
mitochondrial trifunctional protein deficiency 2 (MONDO:0958185)
amegakaryocytic thrombocytopenia, congenital, 2 (MONDO:0957575)
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 (MONDO:0958193)
nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis (MONDO:0958191)
lipodystrophy, congenital generalized, type 5 (MONDO:0958023)
hypodontia/oligodontia with orofacial cleft (MONDO:0100535)
Fliedner-Zweier syndrome (MONDO:0957787)
neurodegeneration with brain iron accumulation 9 (MONDO:0958012)
mitochondrial trifunctional protein deficiency 1 (MONDO:0958181)
spermatogenic failure 87 (MONDO:0957594)
immune dysregulation, autoimmunity, and autoinflammation (MONDO:0957790)
Leber-like hereditary optic neuropathy, autosomal recessive 2 (MONDO:0958197)
Lui-Jee-Baron syndrome (MONDO:0957919)
leukoencephalopathy with vanishing white matter 3 (MONDO:0957871)
immunodeficiency 114, folate-responsive (MONDO:0957955)
Tan-Almurshedi syndrome (MONDO:0957990)
premature ovarian failure 23 (MONDO:0958035)
deafness, autosomal recessive 121 (MONDO:0957825)
parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development (MONDO:0957576)
premature ovarian failure 22 (MONDO:0957822)
immunodeficiency 117 (MONDO:0958011)
congenital amegakaryocytic thrombocytopenia 1 (MONDO:0800452)
developmental and epileptic encephalopathy 112 (MONDO:0957812)
ciliary dyskinesia, primary, 52 (MONDO:0957922)
combined oxidative phosphorylation deficiency 59 (MONDO:0957992)
thrombocytopenia 10 (MONDO:0957578)
immunodeficiency, common variable, 15 (MONDO:0958013)
arthrogryposis, distal, type 12 (MONDO:0957819)
thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies (MONDO:0958000)
glycine encephalopathy 1 (MONDO:0958179)
xerosis and growth failure with immune and pulmonary dysfunction syndrome (MONDO:0957786)
neuronopathy, distal hereditary motor, autosomal dominant 11 (MONDO:0957875)
ciliary dyskinesia, primary, 53 (MONDO:0957991)
spastic paraplegia 18a, autosomal dominant (MONDO:0957788)
oocyte/zygote/embryo maturation arrest 21 (MONDO:0957961)
immunodeficiency 118 (MONDO:0958030)
pseudohypoaldosteronism, type I (MONDO:0957319)
epidermolytic hyperkeratosis (MONDO:0957316)
immunodeficiency 115 with autoinflammation (MONDO:0957981)
hematuria, benign familial, 2 (MONDO:0958186)
encephalitis, acute, infection-induced, susceptibility to, 12 (MONDO:0957561)
epidermolytic hyperkeratosis 2 (MONDO:0958184)
developmental and epileptic encephalopathy 111 (MONDO:0957780)
Leber-like hereditary optic neuropathy, autosomal recessive 1 (MONDO:0958183)
basal cell nevus syndrome 1 (MONDO:0958174)
prolonged electroretinal response suppression 2 (MONDO:0958190)
Long-Olsen-Distelmaier syndrome (MONDO:0957960)
spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia (MONDO:0957813)
intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly (MONDO:0957999)
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 (MONDO:0958178)
craniofacial microsomia 1 (MONDO:0958175)
ocular dysgenesis caused by defects in PAX6 regulation (MONDO:0700246)
spermatogenic failure 86 (MONDO:0957593)
dysplasminogenemia (MONDO:0100538)
bleeding disorder, platelet-type, 25 (MONDO:0957580)
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (MONDO:0957583)
lipodystrophy, familial partial, type 9 (MONDO:0958034)
developmental delay with or without epilepsy (MONDO:0957815)
craniometadiaphyseal osteosclerosis with hip dysplasia (MONDO:0957832)
plasminogen deficiency, type II (MONDO:0100537)
epilepsy, early-onset (MONDO:0957599)
Other nodes created: 1
Term
CLINGEN_LABEL
Nodes obsoleted without replacement: 12
Term
obsolete idiopathic recurrent and disabling cutaneous herpes (MONDO:0018107)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255)
obsolete secondary acute transverse myelitis (MONDO:0015343)
obsolete lethal idiopathic viral infection (MONDO:0018110)
obsolete familial hyperreninemic hypoaldosteronism type 1 (MONDO:0020489)
obsolete breast papillomatosis (MONDO:0002063)
obsolete neuronal ceroid lipofuscinosis, late infantile (MONDO:0800297)
obsolete hereditary non-syndromic obesity (MONDO:0020075)
obsolete pyogenic autoinflammatory syndrome of childhood (MONDO:0957404)
obsolete limbic encephalitis with nCMAgs antibodies (MONDO:0015593)
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469)
obsolete absent thumb-short stature-immunodeficiency syndrome (MONDO:0010123)
Nodes obsoleted with replacement: 7
Term Replacement
obsolete neuronopathy, distal hereditary motor (MONDO:0000075) distal hereditary motor neuropathy (MONDO:0018894)
obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (MONDO:0700042) immunodeficiency 33 (MONDO:0010386)
obsolete adenoid basal carcinoma of the cervix uteri (MONDO:0016287) cervical adenoid basal carcinoma (MONDO:0006132)
obsolete MSH3-related attenuated familial adenomatous polyposis (MONDO:0018812) familial adenomatous polyposis 4 (MONDO:0044300)
obsolete parkinsonism-dystonia, infantile, 2 (MONDO:0054836) brain dopamine-serotonin vesicular transport disease (MONDO:0018130)
obsolete glioma susceptibility 9 (MONDO:0014695) tumor predisposition syndrome 3 (MONDO:0014368)
obsolete syndromic sensorineural deafness due to combined oxidative phosphorylation defect (MONDO:0018706) combined oxidative phosphorylation deficiency 34 (MONDO:0054741)
Nodes renamed: 8
Old Term New Label
melanoma, cutaneous malignant, susceptibility to, 10 (MONDO:0014368) tumor predisposition syndrome 3
COL4A1-related disorders (MONDO:0800461) COL4A1-related disorder
IFAP syndrome with or without BRESHECK syndrome (MONDO:0100213) IFAP syndrome 1, with or without BRESHECK syndrome
craniofacial microsomia 1 (MONDO:0015397) craniofacial microsomia
familial cutaneous melanoma (MONDO:0024462) susceptibility to familial cutaneous melanoma
hematuria, benign familial (MONDO:0007709) hematuria, benign familial, 1
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 (MONDO:0033556) muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
Pelizaeus-Merzbacher disease (MONDO:0010714) Pelizeaus-Merzbacher spectrum disorder
Text definitions changed: 7
Term Old Text Definition New Text Definition
spondyloepiphyseal dysplasia (MONDO:0016761) An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis. An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.
tooth agenesis, selective, 1 (MONDO:0007129) Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene. Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.
Acanthamoeba infectious disease (MONDO:0021747) A infectious disease involving the Acanthamoeba. An infectious disease involving the Acanthamoeba.
susceptibility to familial cutaneous melanoma (MONDO:0024462) An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome. A susceptibility or predisposition to cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.
familial adenomatous polyposis 4 (MONDO:0044300) Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100). An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur.
restrictive dermopathy 1 (MONDO:0800042) A a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities. A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
Text definitions added: 2
Term New Text Definition
restrictive dermopathy (MONDO:0031213) A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.
Mappings created: 30
Subject Predicate Object
restrictive dermopathy (MONDO:0031213) oio:hasDbXref Orphanet:1662
chronic recurrent multifocal osteomyelitis (MONDO:0009813) oio:hasDbXref OMIMPS:609628
glycine encephalopathy (MONDO:0011612) oio:hasDbXref OMIMPS:605899
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasDbXref Orphanet:251630
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasDbXref Orphanet:251627
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasDbXref OMIM:616568
Lafora disease (MONDO:0009697) oio:hasDbXref OMIMPS:254780
mismatch repair cancer syndrome (MONDO:0031219) oio:hasDbXref Orphanet:252202
lysosomal acid lipase deficiency (MONDO:0800449) oio:hasDbXref Orphanet:275761
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) oio:hasDbXref Orphanet:652487
craniofacial microsomia (MONDO:0015397) oio:hasDbXref OMIMPS:164210
familial adenomatous polyposis 4 (MONDO:0044300) oio:hasDbXref GARD:17868
nevoid basal cell carcinoma syndrome (MONDO:0007187) oio:hasDbXref OMIMPS:109400
bradyopsia (MONDO:0012033) oio:hasDbXref OMIMPS:608415
C1Q deficiency (MONDO:0013343) oio:hasDbXref OMIMPS:613652
mitochondrial trifunctional protein deficiency (MONDO:0012172) oio:hasDbXref OMIMPS:609015
Leber hereditary optic neuropathy, autosomal recessive (MONDO:0030309) oio:hasDbXref OMIMPS:619382
oculopharyngeal muscular dystrophy (MONDO:0008116) oio:hasDbXref OMIMPS:164300
renal leiomyoma (MONDO:0006053) oio:hasDbXref NCIT:C159209
FG syndrome (MONDO:0002010) oio:hasDbXref OMIMPS:305450
cervical adenoid basal carcinoma (MONDO:0006132) oio:hasDbXref Orphanet:213828
cervical adenoid basal carcinoma (MONDO:0006132) oio:hasDbXref ICD10CM:C53.0
cervical adenoid basal carcinoma (MONDO:0006132) oio:hasDbXref GARD:20499
progressive supranuclear palsy (MONDO:0019037) oio:hasDbXref OMIMPS:601104
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) oio:hasDbXref OMIM:618049
IFAP syndrome (MONDO:0100212) oio:hasDbXref Orphanet:2273
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) oio:hasDbXref Orphanet:457223
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) oio:hasDbXref GARD:17799
immunodeficiency 33 (MONDO:0010386) oio:hasDbXref GARD:12915
immunodeficiency 33 (MONDO:0010386) oio:hasDbXref Orphanet:319612
Mappings deleted: 21
Subject Predicate Object
chronic recurrent multifocal osteomyelitis (MONDO:0009813) oio:hasDbXref OMIM:259680
glycine encephalopathy (MONDO:0011612) oio:hasDbXref OMIM:605899
mismatch repair cancer syndrome 1 (MONDO:0010159) oio:hasDbXref Orphanet:252202
Lafora disease (MONDO:0009697) oio:hasDbXref OMIM:254780
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) oio:hasDbXref Orphanet:2273
craniofacial microsomia (MONDO:0015397) oio:hasDbXref OMIM:164210
hematuria, benign familial, 1 (MONDO:0007709) oio:hasDbXref MESH:C562476
hematuria, benign familial, 1 (MONDO:0007709) oio:hasDbXref Orphanet:97562
hematuria, benign familial, 1 (MONDO:0007709) oio:hasDbXref DOID:0111365
nevoid basal cell carcinoma syndrome (MONDO:0007187) oio:hasDbXref OMIM:109400
bradyopsia (MONDO:0012033) oio:hasDbXref OMIM:608415
bradyopsia (MONDO:0012033) oio:hasDbXref DOID:0070363
C1Q deficiency (MONDO:0013343) oio:hasDbXref OMIM:613652
intracerebral hemorrhage (MONDO:0013792) oio:hasDbXref OMIM:614519
mitochondrial trifunctional protein deficiency (MONDO:0012172) oio:hasDbXref OMIM:609015
Leber hereditary optic neuropathy, autosomal recessive (MONDO:0030309) oio:hasDbXref OMIM:619382
oculopharyngeal muscular dystrophy (MONDO:0008116) oio:hasDbXref OMIM:164300
oculopharyngeal muscular dystrophy (MONDO:0008116) oio:hasDbXref NCIT:C84942
FG syndrome (MONDO:0002010) oio:hasDbXref OMIMPS:305400
cholesteryl ester storage disease (MONDO:0019149) oio:hasDbXref Orphanet:275761
restrictive dermopathy 1 (MONDO:0800042) oio:hasDbXref Orphanet:1662
Mappings changed: 14
Subject Predicate Old Object New Object
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasDbXref GARD:18582 OMIM:616568
lysosomal acid lipase deficiency (MONDO:0800449) oio:hasDbXref MESH:C531854 DOID:0080217
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) oio:hasDbXref OMIM:620439 Orphanet:652487
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) oio:hasDbXref Orphanet:2273 GARD:2952
familial adenomatous polyposis 4 (MONDO:0044300) oio:hasDbXref DOID:0080412 GARD:17868
nevoid basal cell carcinoma syndrome (MONDO:0007187) oio:hasDbXref UMLS:C0004779 OMIMPS:109400
intracerebral hemorrhage (MONDO:0013792) oio:hasDbXref ICD9:431 SCTID:274100004
Leber hereditary optic neuropathy, autosomal recessive (MONDO:0030309) oio:hasDbXref OMIM:619382 OMIMPS:619382
oculopharyngeal muscular dystrophy (MONDO:0008116) oio:hasDbXref NCIT:C84942 OMIMPS:164300
renal leiomyoma (MONDO:0006053) oio:hasDbXref EFO:1000050 NCIT:C159209
cervical adenoid basal carcinoma (MONDO:0006132) oio:hasDbXref EFO:1000160 GARD:20499
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) oio:hasDbXref GARD:13594 UMLS:C4303546
IFAP syndrome (MONDO:0100212) oio:hasDbXref OMIMPS:308205 Orphanet:2273
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) oio:hasDbXref DOID:0111497 GARD:17799
Synonyms added: 121
Term New Synonym Predicate
autosomal recessive nonsyndromic hearing loss 102 (MONDO:0014428) autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 1A (MONDO:0009076) autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss 10 (MONDO:0011031) autosomal dominant nonsyndromic hearing loss 10 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 21 (MONDO:0011351) autosomal recessive nonsyndromic hearing loss 21 oio:hasExactSynonym
spondyloepiphyseal dysplasia (MONDO:0016761) SED oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 39 (MONDO:0012003) autosomal recessive nonsyndromic hearing loss 39 oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) hyperkeratosis-contracture syndrome oio:hasNarrowSynonym
restrictive dermopathy (MONDO:0031213) lethal hyperkeratosis-contracture syndrome oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) tight skin contracture syndrome oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) lethal tight skin-contracture syndrome oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) lethal restrictive dermopathy oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 6 (MONDO:0010965) autosomal recessive nonsyndromic hearing loss 6 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 18B (MONDO:0013985) autosomal recessive nonsyndromic hearing loss 18B oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 37 (MONDO:0011912) autosomal recessive nonsyndromic hearing loss 37 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 30 (MONDO:0011774) autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym
RPE65-related recessive retinopathy (MONDO:0100368) RPE65-related recessive retinopathy oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 31 (MONDO:0011767) autosomal recessive nonsyndromic hearing loss 31 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 84B (MONDO:0013984) autosomal recessive nonsyndromic hearing loss 84B oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) CMM10 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) glioma susceptibility 9 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) glioma susceptibility type 9 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) malignant glioma caused by mutation in POT1 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) susceptibility to cutaneous malignant melanoma 10 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) GLM9 oio:hasExactSynonym
X-linked hereditary sensory and autonomic neuropathy with hearing loss (MONDO:0010378) X-linked hereditary sensory and autonomic neuropathy with hearing loss oio:hasExactSynonym
cancer or benign tumor (MONDO:0045024) cell proliferation disorder oio:hasRelatedSynonym
hearing loss, autosomal recessive (MONDO:0019588) hearing loss, autosomal recessive oio:hasExactSynonym
tooth agenesis, selective, 1 (MONDO:0007129) MSX1-related tooth agenesis with or without orofacial cleft oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 24 (MONDO:0012602) autosomal recessive nonsyndromic hearing loss 24 oio:hasExactSynonym
ATF6-related retinopathy (MONDO:0100447) ATF6-related retinopathy oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 89 (MONDO:0013489) autosomal recessive nonsyndromic hearing loss 89 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 91 (MONDO:0013269) autosomal recessive nonsyndromic hearing loss 91 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 59 (MONDO:0012445) autosomal recessive nonsyndromic hearing loss 59 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 16 (MONDO:0011364) autosomal recessive nonsyndromic hearing loss 16 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 29 (MONDO:0013537) autosomal recessive nonsyndromic hearing loss 29 oio:hasExactSynonym
ACTB-associated syndromic thrombocytopenia (MONDO:0100433) thrombocytopenia 8, with dysmorphic features and developmental delay oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 67 (MONDO:0012460) autosomal recessive nonsyndromic hearing loss 67 oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss 70 (MONDO:0014853) autosomal dominant nonsyndromic hearing loss 70 oio:hasExactSynonym
distal hereditary motor neuropathy (MONDO:0018894) neuronopathy, distal hereditary motor oio:hasExactSynonym
lysosomal acid lipase deficiency (MONDO:0800449) LAL deficiency oio:hasExactSynonym
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) autosomal dominant intellectual developmental disorder-72 oio:hasExactSynonym
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) MRD72 oio:hasExactSynonym
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) SRRM2-related neurodevelopmental disorder oio:hasExactSynonym
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 49 (MONDO:0012420) autosomal recessive nonsyndromic hearing loss 49 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 8 (MONDO:0010987) autosomal recessive nonsyndromic hearing loss 8 oio:hasExactSynonym
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) ichthyosis follicularis-alopecia-photophobia syndrome oio:hasBroadSynonym
nonsyndromic genetic hearing loss (MONDO:0019497) nonsyndromic genetic hearing loss oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 36 (MONDO:0012170) autosomal recessive nonsyndromic hearing loss 36 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 35 (MONDO:0012060) autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss 40 (MONDO:0014603) autosomal dominant nonsyndromic hearing loss 40 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 76 (MONDO:0014237) autosomal recessive nonsyndromic hearing loss 76 oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss (MONDO:0019587) autosomal dominant nonsyndromic hearing loss oio:hasExactSynonym
susceptibility to familial cutaneous melanoma (MONDO:0024462) melanoma, cutaneous malignant oio:hasExactSynonym
leukoencephalopathy, diffuse hereditary, with spheroids 1 (MONDO:0800027) CSF1R-related ALSP oio:hasExactSynonym
leukoencephalopathy, diffuse hereditary, with spheroids 1 (MONDO:0800027) CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oio:hasExactSynonym
hematuria, benign familial, 1 (MONDO:0007709) hematuria, familial benign oio:hasBroadSynonym
hematuria, benign familial, 1 (MONDO:0007709) hematuria, benign familial oio:hasBroadSynonym
prelingual non-syndromic genetic hearing loss (MONDO:0016297) prelingual non-syndromic genetic hearing loss oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 3 (MONDO:0010860) autosomal recessive nonsyndromic hearing loss 3 oio:hasExactSynonym
hypoplasminogenemia (MONDO:0009009) plasminogen deficiency, type 1 oio:hasExactSynonym
hypoplasminogenemia (MONDO:0009009) plasminogen deficiency, type I oio:hasExactSynonym
hypoplasminogenemia (MONDO:0009009) type 1 plasminogen deficiency oio:hasExactSynonym
hearing loss, X-linked 6 (MONDO:0010484) hearing loss, X-linked 6 oio:hasExactSynonym
familial adenomatous polyposis 4 (MONDO:0044300) MSH3-related attenuated familial polyposis coli oio:hasExactSynonym
familial adenomatous polyposis 4 (MONDO:0044300) MSH3-related attenuated FAP oio:hasExactSynonym
familial adenomatous polyposis 4 (MONDO:0044300) MSH3-related AFAP oio:hasExactSynonym
familial adenomatous polyposis 4 (MONDO:0044300) MSH3-related attenuated familial adenomatous polyposis oio:hasExactSynonym
pregnancy disorder with abortive outcome (MONDO:0041526) intrauterine fetal death oio:hasExactSynonym
pregnancy disorder with abortive outcome (MONDO:0041526) stillbirth oio:hasExactSynonym
pregnancy disorder with abortive outcome (MONDO:0041526) IUFD oio:hasExactSynonym
pregnancy disorder with abortive outcome (MONDO:0041526) intrauterine fetal demise oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 22 (MONDO:0011762) autosomal recessive nonsyndromic hearing loss 22 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 15 (MONDO:0011160) autosomal recessive nonsyndromic hearing loss 15 oio:hasExactSynonym
intellectual disability, autosomal dominant 42 (MONDO:0014855) GNB1-related neurodevelopmental disorder oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 12 (MONDO:0011067) autosomal recessive nonsyndromic hearing loss 12 oio:hasExactSynonym
carbamoyl phosphate synthetase I deficiency disease (MONDO:0009376) carbamoyl-phosphate synthase deficiency disease oio:hasExactSynonym
LCA5-related retinopathy (MONDO:0100445) LCA5-related retinopathy oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 48 (MONDO:0012273) autosomal recessive nonsyndromic hearing loss 48 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 77 (MONDO:0013119) autosomal recessive nonsyndromic hearing loss 77 oio:hasExactSynonym
X-linked mixed hearing loss with perilymphatic gusher (MONDO:0010576) X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss 12 (MONDO:0011102) autosomal dominant nonsyndromic hearing loss 12 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 7 (MONDO:0010967) autosomal recessive nonsyndromic hearing loss 7 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 9 (MONDO:0010986) autosomal recessive nonsyndromic hearing loss 9 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 68 (MONDO:0012485) autosomal recessive nonsyndromic hearing loss 68 oio:hasExactSynonym
supranuclear palsy, progressive, 1 (MONDO:0010997) Steele-Richardson-Olszewski disease oio:hasBroadSynonym
supranuclear palsy, progressive, 1 (MONDO:0010997) Steele-Richardson-Olszewski syndrome oio:hasBroadSynonym
autosomal recessive nonsyndromic hearing loss 93 (MONDO:0013963) autosomal recessive nonsyndromic hearing loss 93 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 63 (MONDO:0012670) autosomal recessive nonsyndromic hearing loss 63 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 42 (MONDO:0012326) autosomal recessive nonsyndromic hearing loss 42 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 28 (MONDO:0012355) autosomal recessive nonsyndromic hearing loss 28 oio:hasExactSynonym
cervical adenoid basal carcinoma (MONDO:0006132) skin adenoid basal cell carcinoma of uterine cervix oio:hasExactSynonym
cervical adenoid basal carcinoma (MONDO:0006132) adenoid basal carcinoma of the cervix uteri oio:hasExactSynonym
cervical adenoid basal carcinoma (MONDO:0006132) cervical adenoid basal carcinoma oio:hasExactSynonym
cervical adenoid basal carcinoma (MONDO:0006132) uterine cervix skin adenoid basal cell carcinoma oio:hasExactSynonym
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 (MONDO:0033556) muscular dystrophy, congenital, DPM3-related oio:hasRelatedSynonym
progressive supranuclear palsy (MONDO:0019037) Steele-Richardson-Olszewski syndrome oio:hasExactSynonym
progressive supranuclear palsy (MONDO:0019037) Steele-Richardson-Olszewski disease oio:hasExactSynonym
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) PKDYS2 oio:hasExactSynonym
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) parkinsonism-dystonia, infantile, 2 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 98 (MONDO:0013929) autosomal recessive nonsyndromic hearing loss 98 oio:hasExactSynonym
Pelizeaus-Merzbacher spectrum disorder (MONDO:0010714) Pelizeaus-Merzbacher spectrum disorder oio:hasExactSynonym
IFAP syndrome (MONDO:0100212) ichthyosis follicularis-atrichia-photophobia syndrome oio:hasExactSynonym
IFAP syndrome (MONDO:0100212) ichthyosis follicularis-alopecia-photophobia syndrome oio:hasExactSynonym
IFAP syndrome (MONDO:0100212) IFAP syndrome oio:hasExactSynonym
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) syndromic sensorineural deafness due to combined oxidative phosphorylation defect oio:hasExactSynonym
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) syndromic sensorineural deafness due to COXPD oio:hasExactSynonym
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) syndromic sensorineural hearing loss due to COXPD oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 79 (MONDO:0013215) autosomal recessive nonsyndromic hearing loss 79 oio:hasExactSynonym
hearing loss, autosomal recessive 57 (MONDO:0033201) hearing loss, autosomal recessive 57 oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) immunodeficiency, pure oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) IPD2 oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) IKBKG X-linked mendelian susceptibility to mycobacterial diseases oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked MSMD due to IKBKG deficiency oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) immunodeficiency, isolated oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked MSMD due to NEMO deficiency oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 84A (MONDO:0013249) autosomal recessive nonsyndromic hearing loss 84A oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 25 (MONDO:0013210) autosomal recessive nonsyndromic hearing loss 25 oio:hasExactSynonym
Synonyms removed: 23
Term Removed Synonym
spondyloepiphyseal dysplasia (MONDO:0016761) SED and SEMD
spondyloepiphyseal dysplasia (MONDO:0016761) spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
tooth agenesis, selective, 1 (MONDO:0007129) hypodontia/oligodontia with orofacial cleft
tooth agenesis, selective, 1 (MONDO:0007129) tooth agenesis, selective, with orofacial cleft
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) ichthyosis follicularis-atrichia-photophobia syndrome
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) IFAP syndrome
craniofacial microsomia (MONDO:0015397) craniofacial microsomia
hypoplasminogenemia (MONDO:0009009) Dysplasminogenemia
hypoplasminogenemia (MONDO:0009009) plasminogen deficiency, type 2
intracerebral hemorrhage (MONDO:0013792) ich
intracerebral hemorrhage (MONDO:0013792) hemorrhage, intracerebral, susceptibility to
intracerebral hemorrhage (MONDO:0013792) stroke, hemorrhagic, susceptibility to
epidermolytic ichthyosis (MONDO:0007239) epidermolytic hyperkeratosis, late-onset
epidermolytic ichthyosis (MONDO:0007239) epidermolytic hyperkeratosis
carbamoyl phosphate synthetase I deficiency disease (MONDO:0009376) carbamoyl-phosphate synthase
carbamoyl phosphate synthetase I deficiency disease (MONDO:0009376) deficiency disease
Leber hereditary optic neuropathy, autosomal recessive (MONDO:0030309) mitochondrial complex 1 deficiency, nuclear type 38
aniridia 2 (MONDO:0014937) aniridia 2; AN2
cholesteryl ester storage disease (MONDO:0019149) LAL deficiency
restrictive dermopathy 1 (MONDO:0800042) tight skin contracture syndrome
restrictive dermopathy 1 (MONDO:0800042) lethal restrictive dermopathy
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 (MONDO:0033556) Muscular Dystrophy, Congenital, Dpm3-Related
immunodeficiency 33 (MONDO:0010386) immunodeficiency, Pure
Synonym predicates changed: 14
Term Old Predicate New Predicate Synonym
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasRelatedSynonym oio:hasExactSynonym susceptibility to cutaneous malignant melanoma 10
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasRelatedSynonym oio:hasExactSynonym CMM10
cancer or benign tumor (MONDO:0045024) oio:hasExactSynonym oio:hasRelatedSynonym cell proliferation disorder
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) oio:hasExactSynonym oio:hasBroadSynonym ichthyosis follicularis-alopecia-photophobia syndrome
hematuria, benign familial, 1 (MONDO:0007709) oio:hasExactSynonym oio:hasBroadSynonym hematuria, familial benign
hematuria, benign familial, 1 (MONDO:0007709) oio:hasExactSynonym oio:hasBroadSynonym hematuria, benign familial
hypoplasminogenemia (MONDO:0009009) oio:hasRelatedSynonym oio:hasExactSynonym plasminogen deficiency, type I
hypoplasminogenemia (MONDO:0009009) oio:hasRelatedSynonym oio:hasExactSynonym type 1 plasminogen deficiency
hypoplasminogenemia (MONDO:0009009) oio:hasRelatedSynonym oio:hasExactSynonym plasminogen deficiency, type 1
supranuclear palsy, progressive, 1 (MONDO:0010997) oio:hasExactSynonym oio:hasBroadSynonym Steele-Richardson-Olszewski syndrome
supranuclear palsy, progressive, 1 (MONDO:0010997) oio:hasExactSynonym oio:hasBroadSynonym Steele-Richardson-Olszewski disease
progressive supranuclear palsy (MONDO:0019037) oio:hasNarrowSynonym oio:hasExactSynonym Steele-Richardson-Olszewski syndrome
immunodeficiency 33 (MONDO:0010386) oio:hasRelatedSynonym oio:hasExactSynonym IPD2
immunodeficiency 33 (MONDO:0010386) oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, isolated
Edges deleted: 165
Subject Predicate Object
foveal hypoplasia 1 (MONDO:0007628) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/8620
corticosterone methyloxidase type 2 deficiency (MONDO:0012524) subClassOf (rdfs:subClassOf) obsolete familial hyperreninemic hypoaldosteronism type 1 (MONDO:0020489)
obesity due to SIM1 deficiency (MONDO:0018244) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
juvenile breast papillomatosis (MONDO:0003955) subClassOf (rdfs:subClassOf) obsolete breast papillomatosis (MONDO:0002063)
neuroblastoma, susceptibility to, 4 (MONDO:0013084) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete lethal idiopathic viral infection (MONDO:0018110) subClassOf (rdfs:subClassOf) viral infectious disease (MONDO:0005108)
obsolete lethal idiopathic viral infection (MONDO:0018110) has characteristic (RO:0000053) rare (MONDO:0021136)
obsolete lethal idiopathic viral infection (MONDO:0018110) subClassOf (rdfs:subClassOf) idiopathic disease (MONDO:0700007)
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) has characteristic (RO:0000053) HP:0000006
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete breast papillomatosis (MONDO:0002063) subClassOf (rdfs:subClassOf) papilloma (MONDO:0002363)
obsolete breast papillomatosis (MONDO:0002063) subClassOf (rdfs:subClassOf) papillomatosis (MONDO:0021098)
obsolete breast papillomatosis (MONDO:0002063) subClassOf (rdfs:subClassOf) breast benign neoplasm (MONDO:0000620)
colorectal cancer, susceptibility to, 10 (MONDO:0012953) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 9 (MONDO:0014056) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 9 (MONDO:0014056) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
corticosterone methyloxidase type 1 deficiency (MONDO:0008751) subClassOf (rdfs:subClassOf) obsolete familial hyperreninemic hypoaldosteronism type 1 (MONDO:0020489)
familial schizencephaly (MONDO:0018829) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
isolated optic nerve hypoplasia (MONDO:0008136) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/8620
isolated optic nerve hypoplasia (MONDO:0008136) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
NTHL1-deficiency tumor predisposition syndrome (MONDO:0100502) predisposes towards (predisposes_towards) neoplasm (MONDO:0005070)
NTHL1-deficiency tumor predisposition syndrome (MONDO:0100502) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) immune system disorder (MONDO:0005046)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) autoinflammatory syndrome (MONDO:0019751)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) hereditary disorder of connective tissue (MONDO:0023603)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) hematologic disorder (MONDO:0005570)
colorectal cancer, susceptibility to, 3 (MONDO:0012820) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete familial hyperreninemic hypoaldosteronism type 1 (MONDO:0020489) subClassOf (rdfs:subClassOf) familial hypoaldosteronism (MONDO:0018541)
ovarian cancer, susceptibility to, 1 (MONDO:0011931) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
CDH1-related diffuse gastric and lobular breast cancer syndrome (MONDO:0100488) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
syndromic complex neurodevelopmental disorder (MONDO:0800439) subClassOf (rdfs:subClassOf) neurodevelopmental disorder (MONDO:0700092)
breast cancer, familial, susceptibility to, 3 (MONDO:0800420) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
epilepsy, early-onset, with or without developmental delay (MONDO:0030005) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
colorectal cancer, susceptibility to, 9 (MONDO:0012952) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuroblastoma, susceptibility to, 3 (MONDO:0013083) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
tumor predisposition syndrome 3 (MONDO:0014368) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
tumor predisposition syndrome 3 (MONDO:0014368) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
breast cancer, familial, susceptibility to, 2 (MONDO:0800419) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate (MONDO:0100199) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete hereditary non-syndromic obesity (MONDO:0020075) has characteristic (RO:0000053) has an isolated presentation (MONDO:0021128)
obsolete hereditary non-syndromic obesity (MONDO:0020075) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
obsolete syndromic sensorineural deafness due to combined oxidative phosphorylation defect (MONDO:0018706) subClassOf (rdfs:subClassOf) mitochondrial oxidative phosphorylation disorder (MONDO:0016387)
PAX6-related ocular dysgenesis (MONDO:0800183) subClassOf (rdfs:subClassOf) eye disorder (MONDO:0005328)
obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (MONDO:0700042) predisposes towards (predisposes_towards) mycobacterial infectious disease (MONDO:0020590)
obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (MONDO:0700042) subClassOf (rdfs:subClassOf) X-linked Mendelian susceptibility to mycobacterial diseases (MONDO:0017905)
obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (MONDO:0700042) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/5961
colorectal cancer, susceptibility to, 4 (MONDO:0800423) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 1 (MONDO:0012132) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 2 (MONDO:0012673) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete idiopathic recurrent and disabling cutaneous herpes (MONDO:0018107) subClassOf (rdfs:subClassOf) viral infectious disease (MONDO:0005108)
obsolete idiopathic recurrent and disabling cutaneous herpes (MONDO:0018107) has characteristic (RO:0000053) rare (MONDO:0021136)
obsolete idiopathic recurrent and disabling cutaneous herpes (MONDO:0018107) subClassOf (rdfs:subClassOf) idiopathic disease (MONDO:0700007)
obsolete neuronopathy, distal hereditary motor (MONDO:0000075) subClassOf (rdfs:subClassOf) motor neuron disorder (MONDO:0020128)
melanoma, cutaneous malignant, susceptibility to, 7 (MONDO:0012842) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 7 (MONDO:0012842) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
leukemia, acute lymphocytic, susceptibility to, 1 (MONDO:0013108) has characteristic (RO:0000053) PATO:0000389
leukemia, acute lymphocytic, susceptibility to, 1 (MONDO:0013108) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuroblastoma, susceptibility to, 1 (MONDO:0009741) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, on chromosome 15 (MONDO:0800424) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuroblastoma, susceptibility to, 6 (MONDO:0013086) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
multiple epiphyseal dysplasia, Al-Gazali type (MONDO:0011778) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/30497
obsolete neuronal ceroid lipofuscinosis, late infantile (MONDO:0800297) subClassOf (rdfs:subClassOf) neuronal ceroid lipofuscinosis (MONDO:0016295)
neuroblastoma, susceptibility to, 5 (MONDO:0013085) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 6 (MONDO:0012822) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
lung cancer susceptibility 3 (MONDO:0012942) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 5 (MONDO:0012821) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
ovarian cancer, familial, susceptibility to, 3 (MONDO:0800435) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to prohormone convertase I deficiency (MONDO:0010961) subClassOf (rdfs:subClassOf) isolated congenital hypogonadotropic hypogonadism (MONDO:0016553)
obesity due to prohormone convertase I deficiency (MONDO:0010961) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
cholangiocarcinoma, susceptibility to (MONDO:0014281) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
Warburg micro syndrome (MONDO:0016649) subClassOf (rdfs:subClassOf) syndromic microphthalmia (MONDO:0016073)
obsolete parkinsonism-dystonia, infantile, 2 (MONDO:0054836) subClassOf (rdfs:subClassOf) parkinsonism-dystonia, infantile (MONDO:0013150)
hereditary breast ovarian cancer syndrome (MONDO:0003582) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete limbic encephalitis with nCMAgs antibodies (MONDO:0015593) subClassOf (rdfs:subClassOf) limbic encephalitis (MONDO:0015588)
colorectal cancer, susceptibility to, 7 (MONDO:0012823) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to congenital leptin deficiency (MONDO:0013991) subClassOf (rdfs:subClassOf) isolated congenital hypogonadotropic hypogonadism (MONDO:0016553)
obesity due to congenital leptin deficiency (MONDO:0013991) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
hemangioma, capillary infantile, susceptibility to (MONDO:0100301) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 4 (MONDO:0011954) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 4 (MONDO:0011954) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469) subClassOf (rdfs:subClassOf) congenital anemia (MONDO:0000577)
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469) subClassOf (rdfs:subClassOf) inherited thrombocytopenia (MONDO:0100241)
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/7217
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469) subClassOf (rdfs:subClassOf) inherited aplastic anemia (MONDO:0001713)
susceptibility to uveal melanoma (MONDO:0007966) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to pro-opiomelanocortin deficiency (MONDO:0012335) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
susceptibility to familial cutaneous melanoma (MONDO:0024462) subClassOf (rdfs:subClassOf) hereditary skin disorder (MONDO:0100118)
susceptibility to familial cutaneous melanoma (MONDO:0024462) subClassOf (rdfs:subClassOf) familial melanoma (MONDO:0018961)
obsolete MSH3-related attenuated familial adenomatous polyposis (MONDO:0018812) subClassOf (rdfs:subClassOf) attenuated familial adenomatous polyposis (MONDO:0016362)
hematuria, benign familial, 1 (MONDO:0007709) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
leukemia, chronic lymphocytic, susceptibility to, 3 (MONDO:0012934) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuronopathy, distal hereditary motor, autosomal recessive (MONDO:0015363) subClassOf (rdfs:subClassOf) obsolete neuronopathy, distal hereditary motor (MONDO:0000075)
sterile multifocal osteomyelitis with periostitis and pustulosis (MONDO:0013021) subClassOf (rdfs:subClassOf) immune system disorder (MONDO:0005046)
sterile multifocal osteomyelitis with periostitis and pustulosis (MONDO:0013021) subClassOf (rdfs:subClassOf) autoinflammatory syndrome (MONDO:0019751)
sterile multifocal osteomyelitis with periostitis and pustulosis (MONDO:0013021) subClassOf (rdfs:subClassOf) hereditary disorder of connective tissue (MONDO:0023603)
pancreatic cancer, susceptibility to, 1 (MONDO:0011739) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
nasopharyngeal carcinoma, susceptibility to, 3 (MONDO:0014902) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to CEP19 deficiency (MONDO:0014309) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
leukemia, chronic lymphocytic, susceptibility to, 1 (MONDO:0012318) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete adenoid basal carcinoma of the cervix uteri (MONDO:0016287) subClassOf (rdfs:subClassOf) skin adenoid basal cell carcinoma (MONDO:0002951)
obsolete adenoid basal carcinoma of the cervix uteri (MONDO:0016287) has characteristic (RO:0000053) rare (MONDO:0021136)
obsolete adenoid basal carcinoma of the cervix uteri (MONDO:0016287) subClassOf (rdfs:subClassOf) cervical squamous cell carcinoma (MONDO:0006143)
erythroleukemia, familial, susceptibility to (MONDO:0007573) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
ovarian cancer, familial, susceptibility to, 1 (MONDO:0800433) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 12 (MONDO:0014038) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
breast cancer, familial, susceptibility to, 1 (MONDO:0800418) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
pancreatic cancer, susceptibility to, 4 (MONDO:0013685) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 3 (MONDO:0012183) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 3 (MONDO:0012183) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
oculopharyngeal muscular dystrophy (MONDO:0008116) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/8565
ovarian cancer, familial, susceptibility to, 2 (MONDO:0800434) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, acute myeloid, susceptibility to (MONDO:0100173) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 5 (MONDO:0013133) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 5 (MONDO:0013133) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
follicular lymphoma, susceptibility to, 1 (MONDO:0013088) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
lung cancer susceptibility 1 (MONDO:0012159) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
lung cancer susceptibility 4 (MONDO:0012955) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
pancreatic cancer, susceptibility to, 2 (MONDO:0013235) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, chronic lymphocytic, susceptibility to, 4 (MONDO:0012935) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
pancreatic cancer, susceptibility to, 5 (MONDO:0032867) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
congenital myasthenic syndrome 14 (MONDO:0014543) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/23159
Martsolf syndrome (MONDO:0023910) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
lung cancer susceptibility 5 (MONDO:0013631) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
supranuclear palsy, progressive, 1 (MONDO:0010997) subClassOf (rdfs:subClassOf) inherited neurodegenerative disorder (MONDO:0024237)
nasopharyngeal carcinoma, susceptibility to, 2 (MONDO:0008067) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuroblastoma, susceptibility to, 7 (MONDO:0014774) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
progressive supranuclear palsy-parkinsonism syndrome (MONDO:0009839) subClassOf (rdfs:subClassOf) inherited neurodegenerative disorder (MONDO:0024237)
colorectal cancer, susceptibility to, 11 (MONDO:0012954) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 8 (MONDO:0013759) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 8 (MONDO:0013759) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 6 (MONDO:0013510) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 6 (MONDO:0013510) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
intraductal breast papillomatosis (MONDO:0004253) subClassOf (rdfs:subClassOf) intraductal papilloma (MONDO:0002060)
intraductal breast papillomatosis (MONDO:0004253) subClassOf (rdfs:subClassOf) obsolete breast papillomatosis (MONDO:0002063)
neuroblastoma, susceptibility to, 2 (MONDO:0700041) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuronopathy, distal hereditary motor, autosomal dominant (MONDO:0015362) subClassOf (rdfs:subClassOf) obsolete neuronopathy, distal hereditary motor (MONDO:0000075)
colorectal cancer, susceptibility to, 8 (MONDO:0012951) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to melanocortin 4 receptor deficiency (MONDO:0019115) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
pancreatic cancer, susceptibility to, 3 (MONDO:0013236) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete pyogenic autoinflammatory syndrome of childhood (MONDO:0957404) subClassOf (rdfs:subClassOf) autoinflammatory syndrome (MONDO:0019751)
prostate cancer/brain cancer susceptibility (MONDO:0011361) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, chronic lymphocytic, susceptibility to, 2 (MONDO:0007190) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, acute lymphoblastic, susceptibility to, 3 (MONDO:0014241) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
cervical adenoid basal carcinoma (MONDO:0006132) subClassOf (rdfs:subClassOf) cervical carcinoma (MONDO:0005131)
leukemia, acute lymphocytic, susceptibility to, 2 (MONDO:0013109) has characteristic (RO:0000053) PATO:0000389
leukemia, acute lymphocytic, susceptibility to, 2 (MONDO:0013109) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255) subClassOf (rdfs:subClassOf) synostosis (MONDO:0001411)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255) subClassOf (rdfs:subClassOf) syndromic disease (MONDO:0002254)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255) subClassOf (rdfs:subClassOf) congenital limb malformation (MONDO:0019054)
obsolete secondary acute transverse myelitis (MONDO:0015343) subClassOf (rdfs:subClassOf) acute transverse myelitis (MONDO:0015342)
obsolete glioma susceptibility 9 (MONDO:0014695) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/17284
obsolete glioma susceptibility 9 (MONDO:0014695) subClassOf (rdfs:subClassOf) glioma susceptibility (MONDO:0100242)
obsolete absent thumb-short stature-immunodeficiency syndrome (MONDO:0010123) subClassOf (rdfs:subClassOf) immune system disorder (MONDO:0005046)
obsolete absent thumb-short stature-immunodeficiency syndrome (MONDO:0010123) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
obsolete absent thumb-short stature-immunodeficiency syndrome (MONDO:0010123) subClassOf (rdfs:subClassOf) syndromic disease (MONDO:0002254)
obesity due to leptin receptor gene deficiency (MONDO:0013992) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
obesity due to leptin receptor gene deficiency (MONDO:0013992) subClassOf (rdfs:subClassOf) isolated congenital hypogonadotropic hypogonadism (MONDO:0016553)
leukemia, chronic lymphocytic, susceptibility to, 5 (MONDO:0012936) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
nasopharyngeal carcinoma, susceptibility to, 1 (MONDO:0011775) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
glioma susceptibility (MONDO:0100242) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (MONDO:0017994) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
melanoma, cutaneous malignant, susceptibility to, 1 (MONDO:0007963) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 1 (MONDO:0007963) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
Nodes moved: 129
Subject Predicate Object
corticosterone methyloxidase type 2 deficiency (MONDO:0012524) subClassOf (rdfs:subClassOf) familial hypoaldosteronism (MONDO:0018541)
obesity due to SIM1 deficiency (MONDO:0018244) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
juvenile breast papillomatosis (MONDO:0003955) subClassOf (rdfs:subClassOf) intraductal breast papillomatosis (MONDO:0004253)
neuroblastoma, susceptibility to, 4 (MONDO:0013084) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) subClassOf (rdfs:subClassOf) autosomal dominant disease (MONDO:0000426)
colorectal cancer, susceptibility to, 10 (MONDO:0012953) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 9 (MONDO:0014056) subClassOf (rdfs:subClassOf) glioma susceptibility (MONDO:0100242)
melanoma, cutaneous malignant, susceptibility to, 9 (MONDO:0014056) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
corticosterone methyloxidase type 1 deficiency (MONDO:0008751) subClassOf (rdfs:subClassOf) familial hypoaldosteronism (MONDO:0018541)
familial schizencephaly (MONDO:0018829) subClassOf (rdfs:subClassOf) COL4A1-related disorder (MONDO:0800461)
NTHL1-deficiency tumor predisposition syndrome (MONDO:0100502) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) chronic recurrent multifocal osteomyelitis (MONDO:0009813)
colorectal cancer, susceptibility to, 3 (MONDO:0012820) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
chronic recurrent multifocal osteomyelitis (MONDO:0009813) subClassOf (rdfs:subClassOf) hereditary disorder of connective tissue (MONDO:0023603)
ovarian cancer, susceptibility to, 1 (MONDO:0011931) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
CDH1-related diffuse gastric and lobular breast cancer syndrome (MONDO:0100488) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
syndromic complex neurodevelopmental disorder (MONDO:0800439) subClassOf (rdfs:subClassOf) complex neurodevelopmental disorder (MONDO:0100038)
breast cancer, familial, susceptibility to, 3 (MONDO:0800420) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
epilepsy, early-onset, with or without developmental delay (MONDO:0030005) subClassOf (rdfs:subClassOf) epilepsy, early-onset (MONDO:0957599)
colorectal cancer, susceptibility to, 9 (MONDO:0012952) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
neuroblastoma, susceptibility to, 3 (MONDO:0013083) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
tumor predisposition syndrome 3 (MONDO:0014368) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
breast cancer, familial, susceptibility to, 2 (MONDO:0800419) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate (MONDO:0100199) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
PAX6-related ocular dysgenesis (MONDO:0800183) subClassOf (rdfs:subClassOf) eye carcinoma (MONDO:0002466)
PAX6-related ocular dysgenesis (MONDO:0800183) subClassOf (rdfs:subClassOf) hereditary renal cell carcinoma (MONDO:0003008)
PAX6-related ocular dysgenesis (MONDO:0800183) subClassOf (rdfs:subClassOf) SMARCB1-deficient kidney medullary carcinoma (MONDO:0100534)
colorectal cancer, susceptibility to, 4 (MONDO:0800423) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 1 (MONDO:0012132) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 2 (MONDO:0012673) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
aniridia 3 (MONDO:0014938) subClassOf (rdfs:subClassOf) SMARCB1-deficient kidney medullary carcinoma (MONDO:0100534)
aniridia 3 (MONDO:0014938) subClassOf (rdfs:subClassOf) eye carcinoma (MONDO:0002466)
aniridia 3 (MONDO:0014938) subClassOf (rdfs:subClassOf) iris cancer (MONDO:0002658)
aniridia 3 (MONDO:0014938) subClassOf (rdfs:subClassOf) hereditary renal cell carcinoma (MONDO:0003008)
hereditary neoplastic syndrome (MONDO:0015356) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 7 (MONDO:0012842) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
leukemia, acute lymphocytic, susceptibility to, 1 (MONDO:0013108) subClassOf (rdfs:subClassOf) acute disease (MONDO:0020683)
leukemia, acute lymphocytic, susceptibility to, 1 (MONDO:0013108) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
neuroblastoma, susceptibility to, 1 (MONDO:0009741) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, on chromosome 15 (MONDO:0800424) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
neuroblastoma, susceptibility to, 6 (MONDO:0013086) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
multiple epiphyseal dysplasia, Al-Gazali type (MONDO:0011778) subClassOf (rdfs:subClassOf) KIF7-related ciliopathy (MONDO:0800463)
neuroblastoma, susceptibility to, 5 (MONDO:0013085) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 6 (MONDO:0012822) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
lung cancer susceptibility 3 (MONDO:0012942) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 5 (MONDO:0012821) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
ovarian cancer, familial, susceptibility to, 3 (MONDO:0800435) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
obesity due to prohormone convertase I deficiency (MONDO:0010961) has characteristic (RO:0000053) congenital (MONDO:0021140)
obesity due to prohormone convertase I deficiency (MONDO:0010961) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
obesity due to prohormone convertase I deficiency (MONDO:0010961) subClassOf (rdfs:subClassOf) congenital hypogonadotropic hypogonadism (MONDO:0015770)
cholangiocarcinoma, susceptibility to (MONDO:0014281) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
Warburg micro syndrome (MONDO:0016649) subClassOf (rdfs:subClassOf) RAB18 deficiency (MONDO:0700247)
colorectal cancer, susceptibility to, 7 (MONDO:0012823) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
obesity due to congenital leptin deficiency (MONDO:0013991) subClassOf (rdfs:subClassOf) congenital hypogonadotropic hypogonadism (MONDO:0015770)
obesity due to congenital leptin deficiency (MONDO:0013991) has characteristic (RO:0000053) congenital (MONDO:0021140)
obesity due to congenital leptin deficiency (MONDO:0013991) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
hemangioma, capillary infantile, susceptibility to (MONDO:0100301) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 4 (MONDO:0011954) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
susceptibility to uveal melanoma (MONDO:0007966) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
obesity due to pro-opiomelanocortin deficiency (MONDO:0012335) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
epilepsy, early-onset, vitamin B6-dependent (MONDO:0015005) subClassOf (rdfs:subClassOf) epilepsy, early-onset (MONDO:0957599)
basal cell carcinoma, susceptibility to, 7 (MONDO:0013876) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
susceptibility to familial cutaneous melanoma (MONDO:0024462) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
hematuria, benign familial, 1 (MONDO:0007709) subClassOf (rdfs:subClassOf) hematuria, benign familial (MONDO:0957317)
leukemia, chronic lymphocytic, susceptibility to, 3 (MONDO:0012934) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
nephrolithiasis susceptibility caused by SLC26A1 (MONDO:0020722) subClassOf (rdfs:subClassOf) nephrolithiasis, calcium oxalate (MONDO:0957318)
sterile multifocal osteomyelitis with periostitis and pustulosis (MONDO:0013021) subClassOf (rdfs:subClassOf) chronic recurrent multifocal osteomyelitis (MONDO:0009813)
pancreatic cancer, susceptibility to, 1 (MONDO:0011739) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
nasopharyngeal carcinoma, susceptibility to, 3 (MONDO:0014902) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
obesity due to CEP19 deficiency (MONDO:0014309) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
leukemia, chronic lymphocytic, susceptibility to, 1 (MONDO:0012318) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
erythroleukemia, familial, susceptibility to (MONDO:0007573) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
ovarian cancer, familial, susceptibility to, 1 (MONDO:0800433) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (MONDO:0009364) subClassOf (rdfs:subClassOf) muscle-eye-brain disease (MONDO:0018939)
colorectal cancer, susceptibility to, 12 (MONDO:0014038) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
breast cancer, familial, susceptibility to, 1 (MONDO:0800418) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
pancreatic cancer, susceptibility to, 4 (MONDO:0013685) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 3 (MONDO:0012183) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
ovarian cancer, familial, susceptibility to, 2 (MONDO:0800434) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, acute myeloid, susceptibility to (MONDO:0100173) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
Kaposi sarcoma, susceptibility to (MONDO:0007845) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 5 (MONDO:0013133) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
follicular lymphoma, susceptibility to, 1 (MONDO:0013088) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
lung cancer susceptibility 1 (MONDO:0012159) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
lung cancer susceptibility 4 (MONDO:0012955) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
pancreatic cancer, susceptibility to, 2 (MONDO:0013235) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, chronic lymphocytic, susceptibility to, 4 (MONDO:0012935) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
pancreatic cancer, susceptibility to, 5 (MONDO:0032867) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
congenital myasthenic syndrome 14 (MONDO:0014543) subClassOf (rdfs:subClassOf) ALG2-congenital disorder of glycosylation (MONDO:0011933)
Martsolf syndrome (MONDO:0023910) subClassOf (rdfs:subClassOf) RAB18 deficiency (MONDO:0700247)
lung cancer susceptibility 5 (MONDO:0013631) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome (MONDO:0012726) subClassOf (rdfs:subClassOf) cardiovascular disorder (MONDO:0004995)
aniridia 2 (MONDO:0014937) subClassOf (rdfs:subClassOf) iris cancer (MONDO:0002658)
aniridia 2 (MONDO:0014937) subClassOf (rdfs:subClassOf) eye carcinoma (MONDO:0002466)
aniridia 2 (MONDO:0014937) subClassOf (rdfs:subClassOf) hereditary renal cell carcinoma (MONDO:0003008)
aniridia 2 (MONDO:0014937) subClassOf (rdfs:subClassOf) SMARCB1-deficient kidney medullary carcinoma (MONDO:0100534)
nasopharyngeal carcinoma, susceptibility to, 2 (MONDO:0008067) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
neuroblastoma, susceptibility to, 7 (MONDO:0014774) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 11 (MONDO:0012954) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 8 (MONDO:0013759) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
melanoma, cutaneous malignant, susceptibility to, 6 (MONDO:0013510) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
neuroblastoma, susceptibility to, 2 (MONDO:0700041) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 8 (MONDO:0012951) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
obesity due to melanocortin 4 receptor deficiency (MONDO:0019115) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
pancreatic cancer, susceptibility to, 3 (MONDO:0013236) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
prostate cancer/brain cancer susceptibility (MONDO:0011361) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
Amish lethal microcephaly (MONDO:0011790) subClassOf (rdfs:subClassOf) Mendelian neurodevelopmental disorder (MONDO:0100500)
Amish lethal microcephaly (MONDO:0011790) subClassOf (rdfs:subClassOf) microcephaly (MONDO:0001149)
leukemia, chronic lymphocytic, susceptibility to, 2 (MONDO:0007190) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, acute lymphoblastic, susceptibility to, 3 (MONDO:0014241) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
cervical adenoid basal carcinoma (MONDO:0006132) subClassOf (rdfs:subClassOf) skin adenoid basal cell carcinoma (MONDO:0002951)
cervical adenoid basal carcinoma (MONDO:0006132) has characteristic (RO:0000053) rare (MONDO:0021136)
cervical adenoid basal carcinoma (MONDO:0006132) subClassOf (rdfs:subClassOf) cervical squamous cell carcinoma (MONDO:0006143)
paraneoplastic syndrome (MONDO:0021073) subClassOf (rdfs:subClassOf) cancer-related condition (MONDO:0045054)
leukemia, acute lymphocytic, susceptibility to, 2 (MONDO:0013109) subClassOf (rdfs:subClassOf) acute disease (MONDO:0020683)
leukemia, acute lymphocytic, susceptibility to, 2 (MONDO:0013109) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 (MONDO:0033556) subClassOf (rdfs:subClassOf) DPM3-congenital disorder of glycosylation (MONDO:0013049)
progressive supranuclear palsy (MONDO:0019037) subClassOf (rdfs:subClassOf) inherited neurodegenerative disorder (MONDO:0024237)
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) subClassOf (rdfs:subClassOf) parkinsonism-dystonia, infantile (MONDO:0013150)
obesity due to leptin receptor gene deficiency (MONDO:0013992) has characteristic (RO:0000053) congenital (MONDO:0021140)
obesity due to leptin receptor gene deficiency (MONDO:0013992) subClassOf (rdfs:subClassOf) congenital hypogonadotropic hypogonadism (MONDO:0015770)
obesity due to leptin receptor gene deficiency (MONDO:0013992) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
leukemia, chronic lymphocytic, susceptibility to, 5 (MONDO:0012936) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
nasopharyngeal carcinoma, susceptibility to, 1 (MONDO:0011775) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
glioma susceptibility (MONDO:0100242) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (MONDO:0017994) subClassOf (rdfs:subClassOf) syndromic disease (MONDO:0002254)
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (MONDO:0017994) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
melanoma, cutaneous malignant, susceptibility to, 1 (MONDO:0007963) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
Predicates changed: 6
Subject Old Predicate New Predicate Object
PAX6-related ocular dysgenesis (MONDO:0800183) RO:0004001 has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/8620
COL4A1-related disorder (MONDO:0800461) subClassOf (rdfs:subClassOf) excluded subClassOf (excluded_subClassOf) vascular disorder (MONDO:0005385)
hereditary neoplastic syndrome (MONDO:0015356) excluded subClassOf (excluded_subClassOf) subClassOf (rdfs:subClassOf) neoplastic syndrome (MONDO:0021058)
DPM3-congenital disorder of glycosylation (MONDO:0013049) subClassOf (rdfs:subClassOf) excluded subClassOf (excluded_subClassOf) familial dilated cardiomyopathy (MONDO:0016333)
susceptibility to familial cutaneous melanoma (MONDO:0024462) subClassOf (rdfs:subClassOf) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
progressive supranuclear palsy (MONDO:0019037) subClassOf (rdfs:subClassOf) disease arises from feature (RO:0004022) neurodegenerative disease (MONDO:0005559)

@matentzn
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Aweeesome!! This is really looking pretty! More feedback (hope I am not getting on your nerves)

  • Nodes renamed should be reverted to what it was: ID, Old Label, New Label. Like this its a bit of a brain teaser (I already said that before, not sure if you ommitted this because you disagreed?)
  • I dont understand the section "Nodes moved" - what does it mean? Moved from where to where?
  • "Mappings changed" is going to be a complicated one - too complicated for discussing it on this diff PR. Can you point me to a separate issue to discuss this and omit it from the diff for now?

@hrshdhgd
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More feedback (hope I am not getting on your nerves)

Not yet! 😄

  • Nodes renamed should be reverted to what it was: ID, Old Label, New Label. Like this its a bit of a brain teaser (I already said that before, not sure if you ommitted this because you disagreed?)

Done

  • I dont understand the section "Nodes moved" - what does it mean? Moved from where to where?

Me neither, maybe @cmungall could enlighten us!

  • "Mappings changed" is going to be a complicated one - too complicated for discussing it on this diff PR. Can you point me to a separate issue to discuss this and omit it from the diff for now?

Ok, commented code out. You can use any of the 2 issues I mentioned above.


Classes created: 126
Term
hematuria, benign familial (MONDO:0957317)
deafness, autosomal recessive 121 (MONDO:0957825)
congenital amegakaryocytic thrombocytopenia 1 (MONDO:0800452)
plasminogen deficiency, type II (MONDO:0100537)
thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies (MONDO:0958000)
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis (MONDO:0957400)
premature ovarian failure 23 (MONDO:0958035)
epidermolytic hyperkeratosis (MONDO:0957316)
C1Q deficiency 2 (MONDO:0958187)
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 (MONDO:0958193)
premature ovarian failure 22 (MONDO:0957822)
nephrolithiasis, calcium oxalate (MONDO:0957318)
spermatogenic failure 85 (MONDO:0957584)
xerosis and growth failure with immune and pulmonary dysfunction syndrome (MONDO:0957786)
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 (MONDO:0957993)
immunodeficiency 115 with autoinflammation (MONDO:0957981)
glycine encephalopathy 2 (MONDO:0958192)
ocular dysgenesis caused by defects in PAX6 regulation (MONDO:0700246)
C1Q deficiency 1 (MONDO:0958182)
thrombocytopenia 10 (MONDO:0957578)
oocyte/zygote/embryo maturation arrest 21 (MONDO:0957961)
leukoencephalopathy with vanishing white matter 3 (MONDO:0957871)
Alfadhel syndrome (MONDO:0958001)
variegate porphyria, childhood-onset (MONDO:0957577)
tooth agenesis, selective, with orofacial cleft (MONDO:0100536)
spermatogenic failure 88 (MONDO:0957821)
hyper-IgE syndrome 6, autosomal dominant, with recurrent infections (MONDO:0957807)
cardiomyopathy, dilated, 2j (MONDO:0957984)
Leber-like hereditary optic neuropathy, autosomal recessive 1 (MONDO:0958183)
epilepsy, early-onset, 3, with or without developmental delay (MONDO:0958196)
ciliary dyskinesia, primary, 53 (MONDO:0957991)
epilepsy, early-onset (MONDO:0957599)
congenital amegakaryocytic thrombocytopenia (MONDO:0800451)
spastic paraplegia 18a, autosomal dominant (MONDO:0957788)
SMARCB1-deficient kidney medullary carcinoma (MONDO:0100534)
Long-Olsen-Distelmaier syndrome (MONDO:0957960)
Houge-Janssens syndrome (MONDO:0957553)
spastic ataxia 10, autosomal recessive (MONDO:0958009)
neuronopathy, distal hereditary motor, autosomal dominant 11 (MONDO:0957875)
immunodeficiency, common variable, 15 (MONDO:0958013)
combined oxidative phosphorylation deficiency 59 (MONDO:0957992)
chronic recurrent multifocal osteomyelitis 3 (MONDO:0958177)
Alport syndrome 3b, autosomal recessive (MONDO:0957811)
immune dysregulation, autoimmunity, and autoinflammation (MONDO:0957790)
prolonged electroretinal response suppression 2 (MONDO:0958190)
Garg-Mishra progeroid syndrome (MONDO:0957953)
congenital smooth muscle hamartoma, with or without hemihypertrophy (MONDO:0957564)
Fliedner-Zweier syndrome (MONDO:0957787)
arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (MONDO:0957795)
developmental delay with or without epilepsy (MONDO:0957815)
immunodeficiency 118 (MONDO:0958030)
leukodystrophy, hypomyelinating, 27 (MONDO:0958018)
neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline (MONDO:0957985)
cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay (MONDO:0957563)
lipodystrophy, familial partial, type 9 (MONDO:0958034)
thrombocytopenia 9 (MONDO:0957572)
neutropenia, severe congenital, 11, autosomal dominant (MONDO:0958017)
neuronopathy, distal hereditary motor, autosomal recessive 9 (MONDO:0957874)
optic atrophy 15 (MONDO:0957935)
neutropenia, severe congenital, 10, autosomal recessive (MONDO:0957809)
spermatogenic failure 86 (MONDO:0957593)
diabetes, deafness, developmental delay, and short stature syndrome (MONDO:0957997)
immunodeficiency 113 with autoimmunity and autoinflammation (MONDO:0957920)
otosclerosis 11 (MONDO:0957928)
Lui-Jee-Baron syndrome (MONDO:0957919)
basal cell nevus syndrome 1 (MONDO:0958174)
pseudohypoaldosteronism, type I (MONDO:0957319)
Tan-Almurshedi syndrome (MONDO:0957990)
RAB18 deficiency (MONDO:0700247)
optic atrophy 14 (MONDO:0957824)
Ziegler-Huang syndrome (MONDO:0957595)
hematuria, benign familial, 2 (MONDO:0958186)
lymphatic malformation 14 (MONDO:0957954)
optic atrophy 16 (MONDO:0957978)
developmental and epileptic encephalopathy 111 (MONDO:0957780)
congenital disorder of glycosylation, type IIb (MONDO:0957820)
parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development (MONDO:0957576)
leukoencephalopathy with vanishing white matter 4 (MONDO:0957872)
neurodegeneration with brain iron accumulation 9 (MONDO:0958012)
lipodystrophy, congenital generalized, type 5 (MONDO:0958023)
craniofacial microsomia 2 (MONDO:0958194)
ciliary dyskinesia, primary, 52 (MONDO:0957922)
hemorrhage, intracerebral, susceptibility to (MONDO:0100533)
arthrogryposis, distal, type 12 (MONDO:0957819)
leukoencephalopathy with vanishing white matter 5 (MONDO:0957873)
neuronopathy, distal hereditary motor, autosomal recessive 10 (MONDO:0957876)
spondyloepimetaphyseal dysplasia, Guo-Campeau type (MONDO:0958006)
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (MONDO:0957583)
oculopharyngeal muscular dystrophy 2 (MONDO:0958195)
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 (MONDO:0958178)
epidermolytic hyperkeratosis 2 (MONDO:0958184)
bleeding disorder, platelet-type, 25 (MONDO:0957580)
developmental dysplasia of the hip 3 (MONDO:0958037)
basal cell nevus syndrome 2 (MONDO:0958189)
developmental and epileptic encephalopathy 112 (MONDO:0957812)
spastic paraplegia 72b, autosomal recessive (MONDO:0957958)
developmental delay, dysmorphic facies, and brain anomalies (MONDO:0957810)
craniometadiaphyseal osteosclerosis with hip dysplasia (MONDO:0957832)
craniofacial microsomia 1 (MONDO:0958175)
spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia (MONDO:0957813)
encephalitis, acute, infection-induced, susceptibility to, 12 (MONDO:0957561)
oculopharyngeal muscular dystrophy 1 (MONDO:0958176)
neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction (MONDO:0957791)
intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly (MONDO:0957999)
glycine encephalopathy 1 (MONDO:0958179)
immunodeficiency 114, folate-responsive (MONDO:0957955)
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies (MONDO:0957588)
C1Q deficiency 3 (MONDO:0958188)
dysplasminogenemia (MONDO:0100538)
ichthyosis with erythrokeratoderma (MONDO:0957783)
mitochondrial trifunctional protein deficiency 1 (MONDO:0958181)
spermatogenic failure 87 (MONDO:0957594)
Cornelia de Lange syndrome 6 (MONDO:0957921)
hearing loss, noise-induced, susceptibility to (MONDO:0957560)
leukoencephalopathy with vanishing white matter 2 (MONDO:0957870)
amegakaryocytic thrombocytopenia, congenital, 2 (MONDO:0957575)
Hoxha-Aliu syndrome (MONDO:0958005)
mitochondrial trifunctional protein deficiency 2 (MONDO:0958185)
prolonged electroretinal response suppression 1 (MONDO:0958180)
Leber-like hereditary optic neuropathy, autosomal recessive 2 (MONDO:0958197)
neurodevelopmental disorder with language delay and variable cognitive abnormalities (MONDO:0957779)
immunodeficiency 117 (MONDO:0958011)
nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis (MONDO:0958191)
hypodontia/oligodontia with orofacial cleft (MONDO:0100535)
osteogenesis imperfecta, type 23 (MONDO:0957988)
lipodystrophy, familial partial, type 8 (MONDO:0958022)
Other nodes created: 1
Term
CLINGEN_LABEL
Nodes obsoleted without replacement: 12
Term
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255)
obsolete limbic encephalitis with nCMAgs antibodies (MONDO:0015593)
obsolete secondary acute transverse myelitis (MONDO:0015343)
obsolete lethal idiopathic viral infection (MONDO:0018110)
obsolete neuronal ceroid lipofuscinosis, late infantile (MONDO:0800297)
obsolete pyogenic autoinflammatory syndrome of childhood (MONDO:0957404)
obsolete idiopathic recurrent and disabling cutaneous herpes (MONDO:0018107)
obsolete hereditary non-syndromic obesity (MONDO:0020075)
obsolete absent thumb-short stature-immunodeficiency syndrome (MONDO:0010123)
obsolete breast papillomatosis (MONDO:0002063)
obsolete familial hyperreninemic hypoaldosteronism type 1 (MONDO:0020489)
Nodes obsoleted with replacement: 7
Term Replacement
obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (MONDO:0700042) immunodeficiency 33 (MONDO:0010386)
obsolete MSH3-related attenuated familial adenomatous polyposis (MONDO:0018812) familial adenomatous polyposis 4 (MONDO:0044300)
obsolete parkinsonism-dystonia, infantile, 2 (MONDO:0054836) brain dopamine-serotonin vesicular transport disease (MONDO:0018130)
obsolete neuronopathy, distal hereditary motor (MONDO:0000075) distal hereditary motor neuropathy (MONDO:0018894)
obsolete glioma susceptibility 9 (MONDO:0014695) tumor predisposition syndrome 3 (MONDO:0014368)
obsolete syndromic sensorineural deafness due to combined oxidative phosphorylation defect (MONDO:0018706) combined oxidative phosphorylation deficiency 34 (MONDO:0054741)
obsolete adenoid basal carcinoma of the cervix uteri (MONDO:0016287) cervical adenoid basal carcinoma (MONDO:0006132)
Nodes renamed: 8
ID Old Label New Label
MONDO:0800461 COL4A1-related disorders COL4A1-related disorder
MONDO:0010714 Pelizaeus-Merzbacher disease Pelizeaus-Merzbacher spectrum disorder
MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 tumor predisposition syndrome 3
MONDO:0007709 hematuria, benign familial hematuria, benign familial, 1
MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome IFAP syndrome 1, with or without BRESHECK syndrome
MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
MONDO:0015397 craniofacial microsomia 1 craniofacial microsomia
MONDO:0024462 familial cutaneous melanoma susceptibility to familial cutaneous melanoma
Text definitions changed: 7
Term Old Text Definition New Text Definition
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
tooth agenesis, selective, 1 (MONDO:0007129) Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene. Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.
spondyloepiphyseal dysplasia (MONDO:0016761) An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis. An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.
familial adenomatous polyposis 4 (MONDO:0044300) Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100). An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur.
restrictive dermopathy 1 (MONDO:0800042) A a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities. A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
Acanthamoeba infectious disease (MONDO:0021747) A infectious disease involving the Acanthamoeba. An infectious disease involving the Acanthamoeba.
susceptibility to familial cutaneous melanoma (MONDO:0024462) An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome. A susceptibility or predisposition to cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.
Text definitions added: 2
Term New Text Definition
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.
restrictive dermopathy (MONDO:0031213) A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.
Mappings created: 30
Subject Predicate Object
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) oio:hasDbXref OMIM:618049
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) oio:hasDbXref Orphanet:652487
familial adenomatous polyposis 4 (MONDO:0044300) oio:hasDbXref GARD:17868
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) oio:hasDbXref GARD:17799
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) oio:hasDbXref Orphanet:457223
mismatch repair cancer syndrome (MONDO:0031219) oio:hasDbXref Orphanet:252202
restrictive dermopathy (MONDO:0031213) oio:hasDbXref Orphanet:1662
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasDbXref OMIM:616568
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasDbXref Orphanet:251627
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasDbXref Orphanet:251630
FG syndrome (MONDO:0002010) oio:hasDbXref OMIMPS:305450
glycine encephalopathy (MONDO:0011612) oio:hasDbXref OMIMPS:605899
Lafora disease (MONDO:0009697) oio:hasDbXref OMIMPS:254780
IFAP syndrome (MONDO:0100212) oio:hasDbXref Orphanet:2273
chronic recurrent multifocal osteomyelitis (MONDO:0009813) oio:hasDbXref OMIMPS:609628
immunodeficiency 33 (MONDO:0010386) oio:hasDbXref GARD:12915
immunodeficiency 33 (MONDO:0010386) oio:hasDbXref Orphanet:319612
progressive supranuclear palsy (MONDO:0019037) oio:hasDbXref OMIMPS:601104
oculopharyngeal muscular dystrophy (MONDO:0008116) oio:hasDbXref OMIMPS:164300
lysosomal acid lipase deficiency (MONDO:0800449) oio:hasDbXref Orphanet:275761
C1Q deficiency (MONDO:0013343) oio:hasDbXref OMIMPS:613652
craniofacial microsomia (MONDO:0015397) oio:hasDbXref OMIMPS:164210
bradyopsia (MONDO:0012033) oio:hasDbXref OMIMPS:608415
cervical adenoid basal carcinoma (MONDO:0006132) oio:hasDbXref GARD:20499
cervical adenoid basal carcinoma (MONDO:0006132) oio:hasDbXref Orphanet:213828
cervical adenoid basal carcinoma (MONDO:0006132) oio:hasDbXref ICD10CM:C53.0
nevoid basal cell carcinoma syndrome (MONDO:0007187) oio:hasDbXref OMIMPS:109400
mitochondrial trifunctional protein deficiency (MONDO:0012172) oio:hasDbXref OMIMPS:609015
Leber hereditary optic neuropathy, autosomal recessive (MONDO:0030309) oio:hasDbXref OMIMPS:619382
renal leiomyoma (MONDO:0006053) oio:hasDbXref NCIT:C159209
Mappings deleted: 21
Subject Predicate Object
mismatch repair cancer syndrome 1 (MONDO:0010159) oio:hasDbXref Orphanet:252202
intracerebral hemorrhage (MONDO:0013792) oio:hasDbXref OMIM:614519
restrictive dermopathy 1 (MONDO:0800042) oio:hasDbXref Orphanet:1662
FG syndrome (MONDO:0002010) oio:hasDbXref OMIMPS:305400
glycine encephalopathy (MONDO:0011612) oio:hasDbXref OMIM:605899
Lafora disease (MONDO:0009697) oio:hasDbXref OMIM:254780
hematuria, benign familial, 1 (MONDO:0007709) oio:hasDbXref Orphanet:97562
hematuria, benign familial, 1 (MONDO:0007709) oio:hasDbXref DOID:0111365
hematuria, benign familial, 1 (MONDO:0007709) oio:hasDbXref MESH:C562476
chronic recurrent multifocal osteomyelitis (MONDO:0009813) oio:hasDbXref OMIM:259680
cholesteryl ester storage disease (MONDO:0019149) oio:hasDbXref Orphanet:275761
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) oio:hasDbXref Orphanet:2273
oculopharyngeal muscular dystrophy (MONDO:0008116) oio:hasDbXref NCIT:C84942
oculopharyngeal muscular dystrophy (MONDO:0008116) oio:hasDbXref OMIM:164300
C1Q deficiency (MONDO:0013343) oio:hasDbXref OMIM:613652
craniofacial microsomia (MONDO:0015397) oio:hasDbXref OMIM:164210
bradyopsia (MONDO:0012033) oio:hasDbXref OMIM:608415
bradyopsia (MONDO:0012033) oio:hasDbXref DOID:0070363
nevoid basal cell carcinoma syndrome (MONDO:0007187) oio:hasDbXref OMIM:109400
mitochondrial trifunctional protein deficiency (MONDO:0012172) oio:hasDbXref OMIM:609015
Leber hereditary optic neuropathy, autosomal recessive (MONDO:0030309) oio:hasDbXref OMIM:619382
Synonym predicates changed: 14
Term Old Predicate New Predicate Synonym
cancer or benign tumor (MONDO:0045024) oio:hasExactSynonym oio:hasRelatedSynonym cell proliferation disorder
supranuclear palsy, progressive, 1 (MONDO:0010997) oio:hasExactSynonym oio:hasBroadSynonym Steele-Richardson-Olszewski disease
supranuclear palsy, progressive, 1 (MONDO:0010997) oio:hasExactSynonym oio:hasBroadSynonym Steele-Richardson-Olszewski syndrome
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasRelatedSynonym oio:hasExactSynonym susceptibility to cutaneous malignant melanoma 10
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasRelatedSynonym oio:hasExactSynonym CMM10
hematuria, benign familial, 1 (MONDO:0007709) oio:hasExactSynonym oio:hasBroadSynonym hematuria, familial benign
hematuria, benign familial, 1 (MONDO:0007709) oio:hasExactSynonym oio:hasBroadSynonym hematuria, benign familial
immunodeficiency 33 (MONDO:0010386) oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, isolated
immunodeficiency 33 (MONDO:0010386) oio:hasRelatedSynonym oio:hasExactSynonym IPD2
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) oio:hasExactSynonym oio:hasBroadSynonym ichthyosis follicularis-alopecia-photophobia syndrome
progressive supranuclear palsy (MONDO:0019037) oio:hasNarrowSynonym oio:hasExactSynonym Steele-Richardson-Olszewski syndrome
hypoplasminogenemia (MONDO:0009009) oio:hasRelatedSynonym oio:hasExactSynonym plasminogen deficiency, type 1
hypoplasminogenemia (MONDO:0009009) oio:hasRelatedSynonym oio:hasExactSynonym plasminogen deficiency, type I
hypoplasminogenemia (MONDO:0009009) oio:hasRelatedSynonym oio:hasExactSynonym type 1 plasminogen deficiency
Synonyms added: 121
Term New Synonym Predicate
cancer or benign tumor (MONDO:0045024) cell proliferation disorder oio:hasRelatedSynonym
hearing loss, X-linked 6 (MONDO:0010484) hearing loss, X-linked 6 oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss 12 (MONDO:0011102) autosomal dominant nonsyndromic hearing loss 12 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 30 (MONDO:0011774) autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) PKDYS2 oio:hasExactSynonym
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) parkinsonism-dystonia, infantile, 2 oio:hasExactSynonym
tooth agenesis, selective, 1 (MONDO:0007129) MSX1-related tooth agenesis with or without orofacial cleft oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 36 (MONDO:0012170) autosomal recessive nonsyndromic hearing loss 36 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 35 (MONDO:0012060) autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 1A (MONDO:0009076) autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 98 (MONDO:0013929) autosomal recessive nonsyndromic hearing loss 98 oio:hasExactSynonym
intellectual disability, autosomal dominant 42 (MONDO:0014855) GNB1-related neurodevelopmental disorder oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 37 (MONDO:0011912) autosomal recessive nonsyndromic hearing loss 37 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 8 (MONDO:0010987) autosomal recessive nonsyndromic hearing loss 8 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 3 (MONDO:0010860) autosomal recessive nonsyndromic hearing loss 3 oio:hasExactSynonym
carbamoyl phosphate synthetase I deficiency disease (MONDO:0009376) carbamoyl-phosphate synthase deficiency disease oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 29 (MONDO:0013537) autosomal recessive nonsyndromic hearing loss 29 oio:hasExactSynonym
ACTB-associated syndromic thrombocytopenia (MONDO:0100433) thrombocytopenia 8, with dysmorphic features and developmental delay oio:hasExactSynonym
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) SRRM2-related neurodevelopmental disorder oio:hasExactSynonym
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) autosomal dominant intellectual developmental disorder-72 oio:hasExactSynonym
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome oio:hasExactSynonym
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) MRD72 oio:hasExactSynonym
spondyloepiphyseal dysplasia (MONDO:0016761) SED oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 24 (MONDO:0012602) autosomal recessive nonsyndromic hearing loss 24 oio:hasExactSynonym
hearing loss, autosomal recessive 57 (MONDO:0033201) hearing loss, autosomal recessive 57 oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss 70 (MONDO:0014853) autosomal dominant nonsyndromic hearing loss 70 oio:hasExactSynonym
nonsyndromic genetic hearing loss (MONDO:0019497) nonsyndromic genetic hearing loss oio:hasExactSynonym
familial adenomatous polyposis 4 (MONDO:0044300) MSH3-related AFAP oio:hasExactSynonym
familial adenomatous polyposis 4 (MONDO:0044300) MSH3-related attenuated FAP oio:hasExactSynonym
familial adenomatous polyposis 4 (MONDO:0044300) MSH3-related attenuated familial adenomatous polyposis oio:hasExactSynonym
familial adenomatous polyposis 4 (MONDO:0044300) MSH3-related attenuated familial polyposis coli oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss (MONDO:0019587) autosomal dominant nonsyndromic hearing loss oio:hasExactSynonym
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) syndromic sensorineural hearing loss due to COXPD oio:hasExactSynonym
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) syndromic sensorineural deafness due to COXPD oio:hasExactSynonym
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) syndromic sensorineural deafness due to combined oxidative phosphorylation defect oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 48 (MONDO:0012273) autosomal recessive nonsyndromic hearing loss 48 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 22 (MONDO:0011762) autosomal recessive nonsyndromic hearing loss 22 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 63 (MONDO:0012670) autosomal recessive nonsyndromic hearing loss 63 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 21 (MONDO:0011351) autosomal recessive nonsyndromic hearing loss 21 oio:hasExactSynonym
supranuclear palsy, progressive, 1 (MONDO:0010997) Steele-Richardson-Olszewski disease oio:hasBroadSynonym
supranuclear palsy, progressive, 1 (MONDO:0010997) Steele-Richardson-Olszewski syndrome oio:hasBroadSynonym
autosomal recessive nonsyndromic hearing loss 89 (MONDO:0013489) autosomal recessive nonsyndromic hearing loss 89 oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) lethal hyperkeratosis-contracture syndrome oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) lethal restrictive dermopathy oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) tight skin contracture syndrome oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) lethal tight skin-contracture syndrome oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) hyperkeratosis-contracture syndrome oio:hasNarrowSynonym
autosomal recessive nonsyndromic hearing loss 102 (MONDO:0014428) autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 93 (MONDO:0013963) autosomal recessive nonsyndromic hearing loss 93 oio:hasExactSynonym
Pelizeaus-Merzbacher spectrum disorder (MONDO:0010714) Pelizeaus-Merzbacher spectrum disorder oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 79 (MONDO:0013215) autosomal recessive nonsyndromic hearing loss 79 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 84B (MONDO:0013984) autosomal recessive nonsyndromic hearing loss 84B oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) susceptibility to cutaneous malignant melanoma 10 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) GLM9 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) glioma susceptibility type 9 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) malignant glioma caused by mutation in POT1 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) glioma susceptibility 9 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) CMM10 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 12 (MONDO:0011067) autosomal recessive nonsyndromic hearing loss 12 oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss 40 (MONDO:0014603) autosomal dominant nonsyndromic hearing loss 40 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 49 (MONDO:0012420) autosomal recessive nonsyndromic hearing loss 49 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 31 (MONDO:0011767) autosomal recessive nonsyndromic hearing loss 31 oio:hasExactSynonym
hematuria, benign familial, 1 (MONDO:0007709) hematuria, familial benign oio:hasBroadSynonym
hematuria, benign familial, 1 (MONDO:0007709) hematuria, benign familial oio:hasBroadSynonym
autosomal recessive nonsyndromic hearing loss 25 (MONDO:0013210) autosomal recessive nonsyndromic hearing loss 25 oio:hasExactSynonym
hearing loss, autosomal recessive (MONDO:0019588) hearing loss, autosomal recessive oio:hasExactSynonym
IFAP syndrome (MONDO:0100212) IFAP syndrome oio:hasExactSynonym
IFAP syndrome (MONDO:0100212) ichthyosis follicularis-atrichia-photophobia syndrome oio:hasExactSynonym
IFAP syndrome (MONDO:0100212) ichthyosis follicularis-alopecia-photophobia syndrome oio:hasExactSynonym
distal hereditary motor neuropathy (MONDO:0018894) neuronopathy, distal hereditary motor oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 15 (MONDO:0011160) autosomal recessive nonsyndromic hearing loss 15 oio:hasExactSynonym
RPE65-related recessive retinopathy (MONDO:0100368) RPE65-related recessive retinopathy oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 16 (MONDO:0011364) autosomal recessive nonsyndromic hearing loss 16 oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) immunodeficiency, pure oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) immunodeficiency, isolated oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) IPD2 oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked MSMD due to NEMO deficiency oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked MSMD due to IKBKG deficiency oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) IKBKG X-linked mendelian susceptibility to mycobacterial diseases oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 67 (MONDO:0012460) autosomal recessive nonsyndromic hearing loss 67 oio:hasExactSynonym
X-linked mixed hearing loss with perilymphatic gusher (MONDO:0010576) X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) ichthyosis follicularis-alopecia-photophobia syndrome oio:hasBroadSynonym
autosomal recessive nonsyndromic hearing loss 59 (MONDO:0012445) autosomal recessive nonsyndromic hearing loss 59 oio:hasExactSynonym
progressive supranuclear palsy (MONDO:0019037) Steele-Richardson-Olszewski disease oio:hasExactSynonym
progressive supranuclear palsy (MONDO:0019037) Steele-Richardson-Olszewski syndrome oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 84A (MONDO:0013249) autosomal recessive nonsyndromic hearing loss 84A oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 6 (MONDO:0010965) autosomal recessive nonsyndromic hearing loss 6 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 7 (MONDO:0010967) autosomal recessive nonsyndromic hearing loss 7 oio:hasExactSynonym
pregnancy disorder with abortive outcome (MONDO:0041526) IUFD oio:hasExactSynonym
pregnancy disorder with abortive outcome (MONDO:0041526) intrauterine fetal death oio:hasExactSynonym
pregnancy disorder with abortive outcome (MONDO:0041526) intrauterine fetal demise oio:hasExactSynonym
pregnancy disorder with abortive outcome (MONDO:0041526) stillbirth oio:hasExactSynonym
leukoencephalopathy, diffuse hereditary, with spheroids 1 (MONDO:0800027) CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oio:hasExactSynonym
leukoencephalopathy, diffuse hereditary, with spheroids 1 (MONDO:0800027) CSF1R-related ALSP oio:hasExactSynonym
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 (MONDO:0033556) muscular dystrophy, congenital, DPM3-related oio:hasRelatedSynonym
autosomal recessive nonsyndromic hearing loss 76 (MONDO:0014237) autosomal recessive nonsyndromic hearing loss 76 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 68 (MONDO:0012485) autosomal recessive nonsyndromic hearing loss 68 oio:hasExactSynonym
lysosomal acid lipase deficiency (MONDO:0800449) LAL deficiency oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 9 (MONDO:0010986) autosomal recessive nonsyndromic hearing loss 9 oio:hasExactSynonym
ATF6-related retinopathy (MONDO:0100447) ATF6-related retinopathy oio:hasExactSynonym
hypoplasminogenemia (MONDO:0009009) type 1 plasminogen deficiency oio:hasExactSynonym
hypoplasminogenemia (MONDO:0009009) plasminogen deficiency, type 1 oio:hasExactSynonym
hypoplasminogenemia (MONDO:0009009) plasminogen deficiency, type I oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 39 (MONDO:0012003) autosomal recessive nonsyndromic hearing loss 39 oio:hasExactSynonym
LCA5-related retinopathy (MONDO:0100445) LCA5-related retinopathy oio:hasExactSynonym
cervical adenoid basal carcinoma (MONDO:0006132) cervical adenoid basal carcinoma oio:hasExactSynonym
cervical adenoid basal carcinoma (MONDO:0006132) uterine cervix skin adenoid basal cell carcinoma oio:hasExactSynonym
cervical adenoid basal carcinoma (MONDO:0006132) adenoid basal carcinoma of the cervix uteri oio:hasExactSynonym
cervical adenoid basal carcinoma (MONDO:0006132) skin adenoid basal cell carcinoma of uterine cervix oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss 10 (MONDO:0011031) autosomal dominant nonsyndromic hearing loss 10 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 77 (MONDO:0013119) autosomal recessive nonsyndromic hearing loss 77 oio:hasExactSynonym
X-linked hereditary sensory and autonomic neuropathy with hearing loss (MONDO:0010378) X-linked hereditary sensory and autonomic neuropathy with hearing loss oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 28 (MONDO:0012355) autosomal recessive nonsyndromic hearing loss 28 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 42 (MONDO:0012326) autosomal recessive nonsyndromic hearing loss 42 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 91 (MONDO:0013269) autosomal recessive nonsyndromic hearing loss 91 oio:hasExactSynonym
susceptibility to familial cutaneous melanoma (MONDO:0024462) melanoma, cutaneous malignant oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 18B (MONDO:0013985) autosomal recessive nonsyndromic hearing loss 18B oio:hasExactSynonym
prelingual non-syndromic genetic hearing loss (MONDO:0016297) prelingual non-syndromic genetic hearing loss oio:hasExactSynonym
Synonyms removed: 23
Term Removed Synonym
tooth agenesis, selective, 1 (MONDO:0007129) tooth agenesis, selective, with orofacial cleft
tooth agenesis, selective, 1 (MONDO:0007129) hypodontia/oligodontia with orofacial cleft
epidermolytic ichthyosis (MONDO:0007239) epidermolytic hyperkeratosis, late-onset
epidermolytic ichthyosis (MONDO:0007239) epidermolytic hyperkeratosis
carbamoyl phosphate synthetase I deficiency disease (MONDO:0009376) deficiency disease
carbamoyl phosphate synthetase I deficiency disease (MONDO:0009376) carbamoyl-phosphate synthase
spondyloepiphyseal dysplasia (MONDO:0016761) SED and SEMD
spondyloepiphyseal dysplasia (MONDO:0016761) spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
intracerebral hemorrhage (MONDO:0013792) ich
intracerebral hemorrhage (MONDO:0013792) stroke, hemorrhagic, susceptibility to
intracerebral hemorrhage (MONDO:0013792) hemorrhage, intracerebral, susceptibility to
restrictive dermopathy 1 (MONDO:0800042) lethal restrictive dermopathy
restrictive dermopathy 1 (MONDO:0800042) tight skin contracture syndrome
immunodeficiency 33 (MONDO:0010386) immunodeficiency, Pure
cholesteryl ester storage disease (MONDO:0019149) LAL deficiency
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) IFAP syndrome
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) ichthyosis follicularis-atrichia-photophobia syndrome
aniridia 2 (MONDO:0014937) aniridia 2; AN2
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 (MONDO:0033556) Muscular Dystrophy, Congenital, Dpm3-Related
hypoplasminogenemia (MONDO:0009009) plasminogen deficiency, type 2
hypoplasminogenemia (MONDO:0009009) Dysplasminogenemia
craniofacial microsomia (MONDO:0015397) craniofacial microsomia
Leber hereditary optic neuropathy, autosomal recessive (MONDO:0030309) mitochondrial complex 1 deficiency, nuclear type 38
Edges deleted: 165
Subject Predicate Object
leukemia, chronic lymphocytic, susceptibility to, 5 (MONDO:0012936) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
ovarian cancer, familial, susceptibility to, 3 (MONDO:0800435) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 11 (MONDO:0012954) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete secondary acute transverse myelitis (MONDO:0015343) subClassOf (rdfs:subClassOf) acute transverse myelitis (MONDO:0015342)
pancreatic cancer, susceptibility to, 5 (MONDO:0032867) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
cholangiocarcinoma, susceptibility to (MONDO:0014281) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, acute lymphoblastic, susceptibility to, 3 (MONDO:0014241) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
syndromic complex neurodevelopmental disorder (MONDO:0800439) subClassOf (rdfs:subClassOf) neurodevelopmental disorder (MONDO:0700092)
nasopharyngeal carcinoma, susceptibility to, 1 (MONDO:0011775) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to CEP19 deficiency (MONDO:0014309) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
melanoma, cutaneous malignant, susceptibility to, 6 (MONDO:0013510) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 6 (MONDO:0013510) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
obsolete parkinsonism-dystonia, infantile, 2 (MONDO:0054836) subClassOf (rdfs:subClassOf) parkinsonism-dystonia, infantile (MONDO:0013150)
obesity due to prohormone convertase I deficiency (MONDO:0010961) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
obesity due to prohormone convertase I deficiency (MONDO:0010961) subClassOf (rdfs:subClassOf) isolated congenital hypogonadotropic hypogonadism (MONDO:0016553)
leukemia, chronic lymphocytic, susceptibility to, 3 (MONDO:0012934) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 1 (MONDO:0007963) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 1 (MONDO:0007963) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
pancreatic cancer, susceptibility to, 2 (MONDO:0013235) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (MONDO:0017994) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
Warburg micro syndrome (MONDO:0016649) subClassOf (rdfs:subClassOf) syndromic microphthalmia (MONDO:0016073)
ovarian cancer, familial, susceptibility to, 2 (MONDO:0800434) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
foveal hypoplasia 1 (MONDO:0007628) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/8620
obesity due to congenital leptin deficiency (MONDO:0013991) subClassOf (rdfs:subClassOf) isolated congenital hypogonadotropic hypogonadism (MONDO:0016553)
obesity due to congenital leptin deficiency (MONDO:0013991) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
hereditary breast ovarian cancer syndrome (MONDO:0003582) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 6 (MONDO:0012822) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to melanocortin 4 receptor deficiency (MONDO:0019115) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
neuroblastoma, susceptibility to, 1 (MONDO:0009741) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
intraductal breast papillomatosis (MONDO:0004253) subClassOf (rdfs:subClassOf) obsolete breast papillomatosis (MONDO:0002063)
intraductal breast papillomatosis (MONDO:0004253) subClassOf (rdfs:subClassOf) intraductal papilloma (MONDO:0002060)
isolated optic nerve hypoplasia (MONDO:0008136) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
isolated optic nerve hypoplasia (MONDO:0008136) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/8620
obsolete neuronal ceroid lipofuscinosis, late infantile (MONDO:0800297) subClassOf (rdfs:subClassOf) neuronal ceroid lipofuscinosis (MONDO:0016295)
supranuclear palsy, progressive, 1 (MONDO:0010997) subClassOf (rdfs:subClassOf) inherited neurodegenerative disorder (MONDO:0024237)
pancreatic cancer, susceptibility to, 3 (MONDO:0013236) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 5 (MONDO:0012821) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, acute lymphocytic, susceptibility to, 2 (MONDO:0013109) has characteristic (RO:0000053) PATO:0000389
leukemia, acute lymphocytic, susceptibility to, 2 (MONDO:0013109) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to leptin receptor gene deficiency (MONDO:0013992) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
obesity due to leptin receptor gene deficiency (MONDO:0013992) subClassOf (rdfs:subClassOf) isolated congenital hypogonadotropic hypogonadism (MONDO:0016553)
lung cancer susceptibility 4 (MONDO:0012955) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
lung cancer susceptibility 5 (MONDO:0013631) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
lung cancer susceptibility 1 (MONDO:0012159) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
nasopharyngeal carcinoma, susceptibility to, 3 (MONDO:0014902) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
tumor predisposition syndrome 3 (MONDO:0014368) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
tumor predisposition syndrome 3 (MONDO:0014368) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuronopathy, distal hereditary motor, autosomal recessive (MONDO:0015363) subClassOf (rdfs:subClassOf) obsolete neuronopathy, distal hereditary motor (MONDO:0000075)
obsolete limbic encephalitis with nCMAgs antibodies (MONDO:0015593) subClassOf (rdfs:subClassOf) limbic encephalitis (MONDO:0015588)
pancreatic cancer, susceptibility to, 4 (MONDO:0013685) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to pro-opiomelanocortin deficiency (MONDO:0012335) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
neuroblastoma, susceptibility to, 5 (MONDO:0013085) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) hereditary disorder of connective tissue (MONDO:0023603)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) immune system disorder (MONDO:0005046)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) autoinflammatory syndrome (MONDO:0019751)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) hematologic disorder (MONDO:0005570)
breast cancer, familial, susceptibility to, 2 (MONDO:0800419) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 1 (MONDO:0012132) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 5 (MONDO:0013133) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 5 (MONDO:0013133) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 4 (MONDO:0011954) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 4 (MONDO:0011954) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
neuroblastoma, susceptibility to, 3 (MONDO:0013083) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
hematuria, benign familial, 1 (MONDO:0007709) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
sterile multifocal osteomyelitis with periostitis and pustulosis (MONDO:0013021) subClassOf (rdfs:subClassOf) hereditary disorder of connective tissue (MONDO:0023603)
sterile multifocal osteomyelitis with periostitis and pustulosis (MONDO:0013021) subClassOf (rdfs:subClassOf) immune system disorder (MONDO:0005046)
sterile multifocal osteomyelitis with periostitis and pustulosis (MONDO:0013021) subClassOf (rdfs:subClassOf) autoinflammatory syndrome (MONDO:0019751)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255) subClassOf (rdfs:subClassOf) syndromic disease (MONDO:0002254)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255) subClassOf (rdfs:subClassOf) synostosis (MONDO:0001411)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255) subClassOf (rdfs:subClassOf) congenital limb malformation (MONDO:0019054)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
obsolete lethal idiopathic viral infection (MONDO:0018110) subClassOf (rdfs:subClassOf) viral infectious disease (MONDO:0005108)
obsolete lethal idiopathic viral infection (MONDO:0018110) subClassOf (rdfs:subClassOf) idiopathic disease (MONDO:0700007)
obsolete lethal idiopathic viral infection (MONDO:0018110) has characteristic (RO:0000053) rare (MONDO:0021136)
juvenile breast papillomatosis (MONDO:0003955) subClassOf (rdfs:subClassOf) obsolete breast papillomatosis (MONDO:0002063)
leukemia, chronic lymphocytic, susceptibility to, 1 (MONDO:0012318) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
epilepsy, early-onset, with or without developmental delay (MONDO:0030005) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
obsolete MSH3-related attenuated familial adenomatous polyposis (MONDO:0018812) subClassOf (rdfs:subClassOf) attenuated familial adenomatous polyposis (MONDO:0016362)
melanoma, cutaneous malignant, susceptibility to, 8 (MONDO:0013759) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 8 (MONDO:0013759) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
ovarian cancer, susceptibility to, 1 (MONDO:0011931) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
congenital myasthenic syndrome 14 (MONDO:0014543) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/23159
obsolete absent thumb-short stature-immunodeficiency syndrome (MONDO:0010123) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
obsolete absent thumb-short stature-immunodeficiency syndrome (MONDO:0010123) subClassOf (rdfs:subClassOf) syndromic disease (MONDO:0002254)
obsolete absent thumb-short stature-immunodeficiency syndrome (MONDO:0010123) subClassOf (rdfs:subClassOf) immune system disorder (MONDO:0005046)
corticosterone methyloxidase type 2 deficiency (MONDO:0012524) subClassOf (rdfs:subClassOf) obsolete familial hyperreninemic hypoaldosteronism type 1 (MONDO:0020489)
follicular lymphoma, susceptibility to, 1 (MONDO:0013088) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuroblastoma, susceptibility to, 7 (MONDO:0014774) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
glioma susceptibility (MONDO:0100242) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 2 (MONDO:0012673) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
corticosterone methyloxidase type 1 deficiency (MONDO:0008751) subClassOf (rdfs:subClassOf) obsolete familial hyperreninemic hypoaldosteronism type 1 (MONDO:0020489)
neuronopathy, distal hereditary motor, autosomal dominant (MONDO:0015362) subClassOf (rdfs:subClassOf) obsolete neuronopathy, distal hereditary motor (MONDO:0000075)
colorectal cancer, susceptibility to, 8 (MONDO:0012951) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
PAX6-related ocular dysgenesis (MONDO:0800183) subClassOf (rdfs:subClassOf) eye disorder (MONDO:0005328)
leukemia, acute myeloid, susceptibility to (MONDO:0100173) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 4 (MONDO:0800423) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (MONDO:0700042) predisposes towards (predisposes_towards) mycobacterial infectious disease (MONDO:0020590)
obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (MONDO:0700042) subClassOf (rdfs:subClassOf) X-linked Mendelian susceptibility to mycobacterial diseases (MONDO:0017905)
obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (MONDO:0700042) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/5961
neuroblastoma, susceptibility to, 2 (MONDO:0700041) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
multiple epiphyseal dysplasia, Al-Gazali type (MONDO:0011778) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/30497
neuroblastoma, susceptibility to, 6 (MONDO:0013086) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, acute lymphocytic, susceptibility to, 1 (MONDO:0013108) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, acute lymphocytic, susceptibility to, 1 (MONDO:0013108) has characteristic (RO:0000053) PATO:0000389
CDH1-related diffuse gastric and lobular breast cancer syndrome (MONDO:0100488) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
prostate cancer/brain cancer susceptibility (MONDO:0011361) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 12 (MONDO:0014038) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 3 (MONDO:0012183) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 3 (MONDO:0012183) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
oculopharyngeal muscular dystrophy (MONDO:0008116) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/8565
colorectal cancer, susceptibility to, 10 (MONDO:0012953) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete breast papillomatosis (MONDO:0002063) subClassOf (rdfs:subClassOf) breast benign neoplasm (MONDO:0000620)
obsolete breast papillomatosis (MONDO:0002063) subClassOf (rdfs:subClassOf) papilloma (MONDO:0002363)
obsolete breast papillomatosis (MONDO:0002063) subClassOf (rdfs:subClassOf) papillomatosis (MONDO:0021098)
obsolete syndromic sensorineural deafness due to combined oxidative phosphorylation defect (MONDO:0018706) subClassOf (rdfs:subClassOf) mitochondrial oxidative phosphorylation disorder (MONDO:0016387)
colorectal cancer, susceptibility to, 9 (MONDO:0012952) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to SIM1 deficiency (MONDO:0018244) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
erythroleukemia, familial, susceptibility to (MONDO:0007573) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete neuronopathy, distal hereditary motor (MONDO:0000075) subClassOf (rdfs:subClassOf) motor neuron disorder (MONDO:0020128)
diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate (MONDO:0100199) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
progressive supranuclear palsy-parkinsonism syndrome (MONDO:0009839) subClassOf (rdfs:subClassOf) inherited neurodegenerative disorder (MONDO:0024237)
hemangioma, capillary infantile, susceptibility to (MONDO:0100301) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
ovarian cancer, familial, susceptibility to, 1 (MONDO:0800433) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, chronic lymphocytic, susceptibility to, 2 (MONDO:0007190) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, chronic lymphocytic, susceptibility to, 4 (MONDO:0012935) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete idiopathic recurrent and disabling cutaneous herpes (MONDO:0018107) has characteristic (RO:0000053) rare (MONDO:0021136)
obsolete idiopathic recurrent and disabling cutaneous herpes (MONDO:0018107) subClassOf (rdfs:subClassOf) idiopathic disease (MONDO:0700007)
obsolete idiopathic recurrent and disabling cutaneous herpes (MONDO:0018107) subClassOf (rdfs:subClassOf) viral infectious disease (MONDO:0005108)
familial schizencephaly (MONDO:0018829) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
obsolete familial hyperreninemic hypoaldosteronism type 1 (MONDO:0020489) subClassOf (rdfs:subClassOf) familial hypoaldosteronism (MONDO:0018541)
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469) subClassOf (rdfs:subClassOf) inherited aplastic anemia (MONDO:0001713)
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/7217
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469) subClassOf (rdfs:subClassOf) inherited thrombocytopenia (MONDO:0100241)
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469) subClassOf (rdfs:subClassOf) congenital anemia (MONDO:0000577)
lung cancer susceptibility 3 (MONDO:0012942) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
cervical adenoid basal carcinoma (MONDO:0006132) subClassOf (rdfs:subClassOf) cervical carcinoma (MONDO:0005131)
obsolete hereditary non-syndromic obesity (MONDO:0020075) has characteristic (RO:0000053) has an isolated presentation (MONDO:0021128)
obsolete hereditary non-syndromic obesity (MONDO:0020075) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
breast cancer, familial, susceptibility to, 1 (MONDO:0800418) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, on chromosome 15 (MONDO:0800424) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) has characteristic (RO:0000053) HP:0000006
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 7 (MONDO:0012823) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
susceptibility to uveal melanoma (MONDO:0007966) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuroblastoma, susceptibility to, 4 (MONDO:0013084) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete glioma susceptibility 9 (MONDO:0014695) subClassOf (rdfs:subClassOf) glioma susceptibility (MONDO:0100242)
obsolete glioma susceptibility 9 (MONDO:0014695) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/17284
obsolete pyogenic autoinflammatory syndrome of childhood (MONDO:0957404) subClassOf (rdfs:subClassOf) autoinflammatory syndrome (MONDO:0019751)
susceptibility to familial cutaneous melanoma (MONDO:0024462) subClassOf (rdfs:subClassOf) familial melanoma (MONDO:0018961)
susceptibility to familial cutaneous melanoma (MONDO:0024462) subClassOf (rdfs:subClassOf) hereditary skin disorder (MONDO:0100118)
obsolete adenoid basal carcinoma of the cervix uteri (MONDO:0016287) subClassOf (rdfs:subClassOf) cervical squamous cell carcinoma (MONDO:0006143)
obsolete adenoid basal carcinoma of the cervix uteri (MONDO:0016287) subClassOf (rdfs:subClassOf) skin adenoid basal cell carcinoma (MONDO:0002951)
obsolete adenoid basal carcinoma of the cervix uteri (MONDO:0016287) has characteristic (RO:0000053) rare (MONDO:0021136)
nasopharyngeal carcinoma, susceptibility to, 2 (MONDO:0008067) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
pancreatic cancer, susceptibility to, 1 (MONDO:0011739) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 9 (MONDO:0014056) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 9 (MONDO:0014056) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
breast cancer, familial, susceptibility to, 3 (MONDO:0800420) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 3 (MONDO:0012820) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 7 (MONDO:0012842) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 7 (MONDO:0012842) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
NTHL1-deficiency tumor predisposition syndrome (MONDO:0100502) predisposes towards (predisposes_towards) neoplasm (MONDO:0005070)
NTHL1-deficiency tumor predisposition syndrome (MONDO:0100502) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
Martsolf syndrome (MONDO:0023910) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
Nodes moved: 129
Subject Predicate Object
leukemia, chronic lymphocytic, susceptibility to, 5 (MONDO:0012936) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
ovarian cancer, familial, susceptibility to, 3 (MONDO:0800435) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 11 (MONDO:0012954) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
pancreatic cancer, susceptibility to, 5 (MONDO:0032867) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
cholangiocarcinoma, susceptibility to (MONDO:0014281) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
aniridia 3 (MONDO:0014938) subClassOf (rdfs:subClassOf) hereditary renal cell carcinoma (MONDO:0003008)
aniridia 3 (MONDO:0014938) subClassOf (rdfs:subClassOf) iris cancer (MONDO:0002658)
aniridia 3 (MONDO:0014938) subClassOf (rdfs:subClassOf) eye carcinoma (MONDO:0002466)
aniridia 3 (MONDO:0014938) subClassOf (rdfs:subClassOf) SMARCB1-deficient kidney medullary carcinoma (MONDO:0100534)
leukemia, acute lymphoblastic, susceptibility to, 3 (MONDO:0014241) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) subClassOf (rdfs:subClassOf) parkinsonism-dystonia, infantile (MONDO:0013150)
syndromic complex neurodevelopmental disorder (MONDO:0800439) subClassOf (rdfs:subClassOf) complex neurodevelopmental disorder (MONDO:0100038)
nasopharyngeal carcinoma, susceptibility to, 1 (MONDO:0011775) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
obesity due to CEP19 deficiency (MONDO:0014309) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
Kaposi sarcoma, susceptibility to (MONDO:0007845) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 6 (MONDO:0013510) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
obesity due to prohormone convertase I deficiency (MONDO:0010961) has characteristic (RO:0000053) congenital (MONDO:0021140)
obesity due to prohormone convertase I deficiency (MONDO:0010961) subClassOf (rdfs:subClassOf) congenital hypogonadotropic hypogonadism (MONDO:0015770)
obesity due to prohormone convertase I deficiency (MONDO:0010961) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
leukemia, chronic lymphocytic, susceptibility to, 3 (MONDO:0012934) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 1 (MONDO:0007963) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
pancreatic cancer, susceptibility to, 2 (MONDO:0013235) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (MONDO:0017994) subClassOf (rdfs:subClassOf) syndromic disease (MONDO:0002254)
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (MONDO:0017994) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
Warburg micro syndrome (MONDO:0016649) subClassOf (rdfs:subClassOf) RAB18 deficiency (MONDO:0700247)
ovarian cancer, familial, susceptibility to, 2 (MONDO:0800434) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
obesity due to congenital leptin deficiency (MONDO:0013991) subClassOf (rdfs:subClassOf) congenital hypogonadotropic hypogonadism (MONDO:0015770)
obesity due to congenital leptin deficiency (MONDO:0013991) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
obesity due to congenital leptin deficiency (MONDO:0013991) has characteristic (RO:0000053) congenital (MONDO:0021140)
colorectal cancer, susceptibility to, 6 (MONDO:0012822) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
Amish lethal microcephaly (MONDO:0011790) subClassOf (rdfs:subClassOf) microcephaly (MONDO:0001149)
Amish lethal microcephaly (MONDO:0011790) subClassOf (rdfs:subClassOf) Mendelian neurodevelopmental disorder (MONDO:0100500)
obesity due to melanocortin 4 receptor deficiency (MONDO:0019115) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
neuroblastoma, susceptibility to, 1 (MONDO:0009741) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome (MONDO:0012726) subClassOf (rdfs:subClassOf) cardiovascular disorder (MONDO:0004995)
pancreatic cancer, susceptibility to, 3 (MONDO:0013236) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 5 (MONDO:0012821) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, acute lymphocytic, susceptibility to, 2 (MONDO:0013109) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, acute lymphocytic, susceptibility to, 2 (MONDO:0013109) subClassOf (rdfs:subClassOf) acute disease (MONDO:0020683)
obesity due to leptin receptor gene deficiency (MONDO:0013992) subClassOf (rdfs:subClassOf) congenital hypogonadotropic hypogonadism (MONDO:0015770)
obesity due to leptin receptor gene deficiency (MONDO:0013992) has characteristic (RO:0000053) congenital (MONDO:0021140)
obesity due to leptin receptor gene deficiency (MONDO:0013992) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
lung cancer susceptibility 4 (MONDO:0012955) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
lung cancer susceptibility 5 (MONDO:0013631) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
lung cancer susceptibility 1 (MONDO:0012159) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (MONDO:0009364) subClassOf (rdfs:subClassOf) muscle-eye-brain disease (MONDO:0018939)
nasopharyngeal carcinoma, susceptibility to, 3 (MONDO:0014902) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
tumor predisposition syndrome 3 (MONDO:0014368) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
basal cell carcinoma, susceptibility to, 7 (MONDO:0013876) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
pancreatic cancer, susceptibility to, 4 (MONDO:0013685) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
hereditary neoplastic syndrome (MONDO:0015356) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to pro-opiomelanocortin deficiency (MONDO:0012335) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
neuroblastoma, susceptibility to, 5 (MONDO:0013085) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) chronic recurrent multifocal osteomyelitis (MONDO:0009813)
breast cancer, familial, susceptibility to, 2 (MONDO:0800419) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 1 (MONDO:0012132) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 5 (MONDO:0013133) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
melanoma, cutaneous malignant, susceptibility to, 4 (MONDO:0011954) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
neuroblastoma, susceptibility to, 3 (MONDO:0013083) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
hematuria, benign familial, 1 (MONDO:0007709) subClassOf (rdfs:subClassOf) hematuria, benign familial (MONDO:0957317)
sterile multifocal osteomyelitis with periostitis and pustulosis (MONDO:0013021) subClassOf (rdfs:subClassOf) chronic recurrent multifocal osteomyelitis (MONDO:0009813)
juvenile breast papillomatosis (MONDO:0003955) subClassOf (rdfs:subClassOf) intraductal breast papillomatosis (MONDO:0004253)
leukemia, chronic lymphocytic, susceptibility to, 1 (MONDO:0012318) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
nephrolithiasis susceptibility caused by SLC26A1 (MONDO:0020722) subClassOf (rdfs:subClassOf) nephrolithiasis, calcium oxalate (MONDO:0957318)
epilepsy, early-onset, with or without developmental delay (MONDO:0030005) subClassOf (rdfs:subClassOf) epilepsy, early-onset (MONDO:0957599)
melanoma, cutaneous malignant, susceptibility to, 8 (MONDO:0013759) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
ovarian cancer, susceptibility to, 1 (MONDO:0011931) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
congenital myasthenic syndrome 14 (MONDO:0014543) subClassOf (rdfs:subClassOf) ALG2-congenital disorder of glycosylation (MONDO:0011933)
corticosterone methyloxidase type 2 deficiency (MONDO:0012524) subClassOf (rdfs:subClassOf) familial hypoaldosteronism (MONDO:0018541)
follicular lymphoma, susceptibility to, 1 (MONDO:0013088) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
neuroblastoma, susceptibility to, 7 (MONDO:0014774) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
chronic recurrent multifocal osteomyelitis (MONDO:0009813) subClassOf (rdfs:subClassOf) hereditary disorder of connective tissue (MONDO:0023603)
glioma susceptibility (MONDO:0100242) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 2 (MONDO:0012673) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
corticosterone methyloxidase type 1 deficiency (MONDO:0008751) subClassOf (rdfs:subClassOf) familial hypoaldosteronism (MONDO:0018541)
colorectal cancer, susceptibility to, 8 (MONDO:0012951) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
PAX6-related ocular dysgenesis (MONDO:0800183) subClassOf (rdfs:subClassOf) hereditary renal cell carcinoma (MONDO:0003008)
PAX6-related ocular dysgenesis (MONDO:0800183) subClassOf (rdfs:subClassOf) SMARCB1-deficient kidney medullary carcinoma (MONDO:0100534)
PAX6-related ocular dysgenesis (MONDO:0800183) subClassOf (rdfs:subClassOf) eye carcinoma (MONDO:0002466)
leukemia, acute myeloid, susceptibility to (MONDO:0100173) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 4 (MONDO:0800423) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
epilepsy, early-onset, vitamin B6-dependent (MONDO:0015005) subClassOf (rdfs:subClassOf) epilepsy, early-onset (MONDO:0957599)
neuroblastoma, susceptibility to, 2 (MONDO:0700041) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
multiple epiphyseal dysplasia, Al-Gazali type (MONDO:0011778) subClassOf (rdfs:subClassOf) KIF7-related ciliopathy (MONDO:0800463)
neuroblastoma, susceptibility to, 6 (MONDO:0013086) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, acute lymphocytic, susceptibility to, 1 (MONDO:0013108) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, acute lymphocytic, susceptibility to, 1 (MONDO:0013108) subClassOf (rdfs:subClassOf) acute disease (MONDO:0020683)
CDH1-related diffuse gastric and lobular breast cancer syndrome (MONDO:0100488) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
prostate cancer/brain cancer susceptibility (MONDO:0011361) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
progressive supranuclear palsy (MONDO:0019037) subClassOf (rdfs:subClassOf) inherited neurodegenerative disorder (MONDO:0024237)
aniridia 2 (MONDO:0014937) subClassOf (rdfs:subClassOf) SMARCB1-deficient kidney medullary carcinoma (MONDO:0100534)
aniridia 2 (MONDO:0014937) subClassOf (rdfs:subClassOf) iris cancer (MONDO:0002658)
aniridia 2 (MONDO:0014937) subClassOf (rdfs:subClassOf) eye carcinoma (MONDO:0002466)
aniridia 2 (MONDO:0014937) subClassOf (rdfs:subClassOf) hereditary renal cell carcinoma (MONDO:0003008)
colorectal cancer, susceptibility to, 12 (MONDO:0014038) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 3 (MONDO:0012183) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
colorectal cancer, susceptibility to, 10 (MONDO:0012953) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 9 (MONDO:0012952) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
obesity due to SIM1 deficiency (MONDO:0018244) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 (MONDO:0033556) subClassOf (rdfs:subClassOf) DPM3-congenital disorder of glycosylation (MONDO:0013049)
erythroleukemia, familial, susceptibility to (MONDO:0007573) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate (MONDO:0100199) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
hemangioma, capillary infantile, susceptibility to (MONDO:0100301) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
ovarian cancer, familial, susceptibility to, 1 (MONDO:0800433) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, chronic lymphocytic, susceptibility to, 2 (MONDO:0007190) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, chronic lymphocytic, susceptibility to, 4 (MONDO:0012935) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
familial schizencephaly (MONDO:0018829) subClassOf (rdfs:subClassOf) COL4A1-related disorder (MONDO:0800461)
lung cancer susceptibility 3 (MONDO:0012942) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
cervical adenoid basal carcinoma (MONDO:0006132) has characteristic (RO:0000053) rare (MONDO:0021136)
cervical adenoid basal carcinoma (MONDO:0006132) subClassOf (rdfs:subClassOf) cervical squamous cell carcinoma (MONDO:0006143)
cervical adenoid basal carcinoma (MONDO:0006132) subClassOf (rdfs:subClassOf) skin adenoid basal cell carcinoma (MONDO:0002951)
breast cancer, familial, susceptibility to, 1 (MONDO:0800418) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, on chromosome 15 (MONDO:0800424) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) subClassOf (rdfs:subClassOf) autosomal dominant disease (MONDO:0000426)
colorectal cancer, susceptibility to, 7 (MONDO:0012823) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
susceptibility to uveal melanoma (MONDO:0007966) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
neuroblastoma, susceptibility to, 4 (MONDO:0013084) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
susceptibility to familial cutaneous melanoma (MONDO:0024462) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
nasopharyngeal carcinoma, susceptibility to, 2 (MONDO:0008067) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
pancreatic cancer, susceptibility to, 1 (MONDO:0011739) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 9 (MONDO:0014056) subClassOf (rdfs:subClassOf) glioma susceptibility (MONDO:0100242)
melanoma, cutaneous malignant, susceptibility to, 9 (MONDO:0014056) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
breast cancer, familial, susceptibility to, 3 (MONDO:0800420) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 3 (MONDO:0012820) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 7 (MONDO:0012842) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
NTHL1-deficiency tumor predisposition syndrome (MONDO:0100502) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
Martsolf syndrome (MONDO:0023910) subClassOf (rdfs:subClassOf) RAB18 deficiency (MONDO:0700247)
paraneoplastic syndrome (MONDO:0021073) subClassOf (rdfs:subClassOf) cancer-related condition (MONDO:0045054)
Predicates changed: 6
Subject Old Predicate New Predicate Object
COL4A1-related disorder (MONDO:0800461) subClassOf (rdfs:subClassOf) excluded subClassOf (excluded_subClassOf) vascular disorder (MONDO:0005385)
hereditary neoplastic syndrome (MONDO:0015356) excluded subClassOf (excluded_subClassOf) subClassOf (rdfs:subClassOf) neoplastic syndrome (MONDO:0021058)
PAX6-related ocular dysgenesis (MONDO:0800183) RO:0004001 has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/8620
DPM3-congenital disorder of glycosylation (MONDO:0013049) subClassOf (rdfs:subClassOf) excluded subClassOf (excluded_subClassOf) familial dilated cardiomyopathy (MONDO:0016333)
progressive supranuclear palsy (MONDO:0019037) subClassOf (rdfs:subClassOf) disease arises from feature (RO:0004022) neurodegenerative disease (MONDO:0005559)
susceptibility to familial cutaneous melanoma (MONDO:0024462) subClassOf (rdfs:subClassOf) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)

@matentzn
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I think thats it.

When you get an answer from Chris on what the "nodes moved" thing is doing (to me, it seems some crucial information is missing), also just do me a small favour and harmonise the added/created--removed/deleted terminology a bit (I would just do added and removed anywhere), but this is minor and can be done in the future. Approved!

@hrshdhgd
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hrshdhgd commented Mar 1, 2024

@matentzn , dug through the code and came to a conclusion that NodeMove basically highlights creation of new relationships for a node. I refactored the title to say "New relationships added:" for now. Will wait on Chris' comments:


Classes added: 126
Term
neuronopathy, distal hereditary motor, autosomal recessive 10 (MONDO:0957876)
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities (MONDO:0957583)
intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly (MONDO:0957999)
hypodontia/oligodontia with orofacial cleft (MONDO:0100535)
tooth agenesis, selective, with orofacial cleft (MONDO:0100536)
nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis (MONDO:0958191)
glycine encephalopathy 1 (MONDO:0958179)
leukoencephalopathy with vanishing white matter 5 (MONDO:0957873)
Leber-like hereditary optic neuropathy, autosomal recessive 1 (MONDO:0958183)
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies (MONDO:0957588)
basal cell nevus syndrome 2 (MONDO:0958189)
craniofacial microsomia 1 (MONDO:0958175)
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis (MONDO:0957400)
developmental delay with or without epilepsy (MONDO:0957815)
hematuria, benign familial, 2 (MONDO:0958186)
spastic paraplegia 72b, autosomal recessive (MONDO:0957958)
craniofacial microsomia 2 (MONDO:0958194)
optic atrophy 15 (MONDO:0957935)
spermatogenic failure 85 (MONDO:0957584)
immunodeficiency 118 (MONDO:0958030)
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 (MONDO:0957993)
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 (MONDO:0958178)
spastic paraplegia 18a, autosomal dominant (MONDO:0957788)
spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia (MONDO:0957813)
lipodystrophy, familial partial, type 8 (MONDO:0958022)
hyper-IgE syndrome 6, autosomal dominant, with recurrent infections (MONDO:0957807)
prolonged electroretinal response suppression 1 (MONDO:0958180)
spermatogenic failure 88 (MONDO:0957821)
ciliary dyskinesia, primary, 53 (MONDO:0957991)
variegate porphyria, childhood-onset (MONDO:0957577)
Long-Olsen-Distelmaier syndrome (MONDO:0957960)
Lui-Jee-Baron syndrome (MONDO:0957919)
xerosis and growth failure with immune and pulmonary dysfunction syndrome (MONDO:0957786)
developmental delay, dysmorphic facies, and brain anomalies (MONDO:0957810)
prolonged electroretinal response suppression 2 (MONDO:0958190)
spondyloepimetaphyseal dysplasia, Guo-Campeau type (MONDO:0958006)
parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development (MONDO:0957576)
Cornelia de Lange syndrome 6 (MONDO:0957921)
Tan-Almurshedi syndrome (MONDO:0957990)
thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies (MONDO:0958000)
pseudohypoaldosteronism, type I (MONDO:0957319)
Alfadhel syndrome (MONDO:0958001)
neurodevelopmental disorder with language delay and variable cognitive abnormalities (MONDO:0957779)
epilepsy, early-onset (MONDO:0957599)
cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay (MONDO:0957563)
dysplasminogenemia (MONDO:0100538)
hematuria, benign familial (MONDO:0957317)
developmental and epileptic encephalopathy 111 (MONDO:0957780)
neuronopathy, distal hereditary motor, autosomal recessive 9 (MONDO:0957874)
chronic recurrent multifocal osteomyelitis 3 (MONDO:0958177)
nephrolithiasis, calcium oxalate (MONDO:0957318)
plasminogen deficiency, type II (MONDO:0100537)
lymphatic malformation 14 (MONDO:0957954)
hearing loss, noise-induced, susceptibility to (MONDO:0957560)
basal cell nevus syndrome 1 (MONDO:0958174)
spermatogenic failure 87 (MONDO:0957594)
congenital amegakaryocytic thrombocytopenia 1 (MONDO:0800452)
neurodegeneration with brain iron accumulation 9 (MONDO:0958012)
cardiomyopathy, dilated, 2j (MONDO:0957984)
epilepsy, early-onset, 3, with or without developmental delay (MONDO:0958196)
diabetes, deafness, developmental delay, and short stature syndrome (MONDO:0957997)
oculopharyngeal muscular dystrophy 2 (MONDO:0958195)
developmental dysplasia of the hip 3 (MONDO:0958037)
leukoencephalopathy with vanishing white matter 3 (MONDO:0957871)
mitochondrial trifunctional protein deficiency 1 (MONDO:0958181)
arthrogryposis, distal, type 12 (MONDO:0957819)
encephalitis, acute, infection-induced, susceptibility to, 12 (MONDO:0957561)
lipodystrophy, congenital generalized, type 5 (MONDO:0958023)
Ziegler-Huang syndrome (MONDO:0957595)
immunodeficiency 113 with autoimmunity and autoinflammation (MONDO:0957920)
immunodeficiency 117 (MONDO:0958011)
epidermolytic hyperkeratosis (MONDO:0957316)
optic atrophy 16 (MONDO:0957978)
neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction (MONDO:0957791)
congenital smooth muscle hamartoma, with or without hemihypertrophy (MONDO:0957564)
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 (MONDO:0958193)
otosclerosis 11 (MONDO:0957928)
neutropenia, severe congenital, 11, autosomal dominant (MONDO:0958017)
neutropenia, severe congenital, 10, autosomal recessive (MONDO:0957809)
Fliedner-Zweier syndrome (MONDO:0957787)
SMARCB1-deficient kidney medullary carcinoma (MONDO:0100534)
developmental and epileptic encephalopathy 112 (MONDO:0957812)
Alport syndrome 3b, autosomal recessive (MONDO:0957811)
glycine encephalopathy 2 (MONDO:0958192)
immunodeficiency 114, folate-responsive (MONDO:0957955)
leukoencephalopathy with vanishing white matter 4 (MONDO:0957872)
craniometadiaphyseal osteosclerosis with hip dysplasia (MONDO:0957832)
neuronopathy, distal hereditary motor, autosomal dominant 11 (MONDO:0957875)
arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (MONDO:0957795)
thrombocytopenia 10 (MONDO:0957578)
RAB18 deficiency (MONDO:0700247)
epidermolytic hyperkeratosis 2 (MONDO:0958184)
oocyte/zygote/embryo maturation arrest 21 (MONDO:0957961)
Houge-Janssens syndrome (MONDO:0957553)
thrombocytopenia 9 (MONDO:0957572)
osteogenesis imperfecta, type 23 (MONDO:0957988)
ciliary dyskinesia, primary, 52 (MONDO:0957922)
combined oxidative phosphorylation deficiency 59 (MONDO:0957992)
spermatogenic failure 86 (MONDO:0957593)
congenital disorder of glycosylation, type IIb (MONDO:0957820)
amegakaryocytic thrombocytopenia, congenital, 2 (MONDO:0957575)
Leber-like hereditary optic neuropathy, autosomal recessive 2 (MONDO:0958197)
C1Q deficiency 1 (MONDO:0958182)
Garg-Mishra progeroid syndrome (MONDO:0957953)
immune dysregulation, autoimmunity, and autoinflammation (MONDO:0957790)
Hoxha-Aliu syndrome (MONDO:0958005)
immunodeficiency, common variable, 15 (MONDO:0958013)
bleeding disorder, platelet-type, 25 (MONDO:0957580)
immunodeficiency 115 with autoinflammation (MONDO:0957981)
deafness, autosomal recessive 121 (MONDO:0957825)
spastic ataxia 10, autosomal recessive (MONDO:0958009)
ichthyosis with erythrokeratoderma (MONDO:0957783)
C1Q deficiency 2 (MONDO:0958187)
neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline (MONDO:0957985)
lipodystrophy, familial partial, type 9 (MONDO:0958034)
ocular dysgenesis caused by defects in PAX6 regulation (MONDO:0700246)
premature ovarian failure 22 (MONDO:0957822)
leukoencephalopathy with vanishing white matter 2 (MONDO:0957870)
oculopharyngeal muscular dystrophy 1 (MONDO:0958176)
premature ovarian failure 23 (MONDO:0958035)
optic atrophy 14 (MONDO:0957824)
congenital amegakaryocytic thrombocytopenia (MONDO:0800451)
leukodystrophy, hypomyelinating, 27 (MONDO:0958018)
hemorrhage, intracerebral, susceptibility to (MONDO:0100533)
C1Q deficiency 3 (MONDO:0958188)
mitochondrial trifunctional protein deficiency 2 (MONDO:0958185)
Other nodes added: 1
Term
CLINGEN_LABEL
Nodes obsoleted without replacement: 12
Term
obsolete secondary acute transverse myelitis (MONDO:0015343)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255)
obsolete idiopathic recurrent and disabling cutaneous herpes (MONDO:0018107)
obsolete neuronal ceroid lipofuscinosis, late infantile (MONDO:0800297)
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469)
obsolete familial hyperreninemic hypoaldosteronism type 1 (MONDO:0020489)
obsolete lethal idiopathic viral infection (MONDO:0018110)
obsolete hereditary non-syndromic obesity (MONDO:0020075)
obsolete pyogenic autoinflammatory syndrome of childhood (MONDO:0957404)
obsolete breast papillomatosis (MONDO:0002063)
obsolete limbic encephalitis with nCMAgs antibodies (MONDO:0015593)
obsolete absent thumb-short stature-immunodeficiency syndrome (MONDO:0010123)
Nodes obsoleted with replacement: 7
Term Replacement
obsolete glioma susceptibility 9 (MONDO:0014695) tumor predisposition syndrome 3 (MONDO:0014368)
obsolete MSH3-related attenuated familial adenomatous polyposis (MONDO:0018812) familial adenomatous polyposis 4 (MONDO:0044300)
obsolete parkinsonism-dystonia, infantile, 2 (MONDO:0054836) brain dopamine-serotonin vesicular transport disease (MONDO:0018130)
obsolete adenoid basal carcinoma of the cervix uteri (MONDO:0016287) cervical adenoid basal carcinoma (MONDO:0006132)
obsolete syndromic sensorineural deafness due to combined oxidative phosphorylation defect (MONDO:0018706) combined oxidative phosphorylation deficiency 34 (MONDO:0054741)
obsolete neuronopathy, distal hereditary motor (MONDO:0000075) distal hereditary motor neuropathy (MONDO:0018894)
obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (MONDO:0700042) immunodeficiency 33 (MONDO:0010386)
Nodes renamed: 8
ID Old Label New Label
MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome IFAP syndrome 1, with or without BRESHECK syndrome
MONDO:0007709 hematuria, benign familial hematuria, benign familial, 1
MONDO:0015397 craniofacial microsomia 1 craniofacial microsomia
MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 tumor predisposition syndrome 3
MONDO:0010714 Pelizaeus-Merzbacher disease Pelizeaus-Merzbacher spectrum disorder
MONDO:0024462 familial cutaneous melanoma susceptibility to familial cutaneous melanoma
MONDO:0800461 COL4A1-related disorders COL4A1-related disorder
Text definitions changed: 7
Term Old Text Definition New Text Definition
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
Acanthamoeba infectious disease (MONDO:0021747) A infectious disease involving the Acanthamoeba. An infectious disease involving the Acanthamoeba.
spondyloepiphyseal dysplasia (MONDO:0016761) An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis. An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.
tooth agenesis, selective, 1 (MONDO:0007129) Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene. Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.
familial adenomatous polyposis 4 (MONDO:0044300) Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100). An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur.
susceptibility to familial cutaneous melanoma (MONDO:0024462) An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome. A susceptibility or predisposition to cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.
restrictive dermopathy 1 (MONDO:0800042) A a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities. A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
Text definitions added: 2
Term New Text Definition
restrictive dermopathy (MONDO:0031213) A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features.
Mappings added: 30
Subject Predicate Object
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) oio:hasDbXref OMIM:618049
restrictive dermopathy (MONDO:0031213) oio:hasDbXref Orphanet:1662
Leber hereditary optic neuropathy, autosomal recessive (MONDO:0030309) oio:hasDbXref OMIMPS:619382
oculopharyngeal muscular dystrophy (MONDO:0008116) oio:hasDbXref OMIMPS:164300
progressive supranuclear palsy (MONDO:0019037) oio:hasDbXref OMIMPS:601104
lysosomal acid lipase deficiency (MONDO:0800449) oio:hasDbXref Orphanet:275761
Lafora disease (MONDO:0009697) oio:hasDbXref OMIMPS:254780
bradyopsia (MONDO:0012033) oio:hasDbXref OMIMPS:608415
FG syndrome (MONDO:0002010) oio:hasDbXref OMIMPS:305450
immunodeficiency 33 (MONDO:0010386) oio:hasDbXref GARD:12915
immunodeficiency 33 (MONDO:0010386) oio:hasDbXref Orphanet:319612
renal leiomyoma (MONDO:0006053) oio:hasDbXref NCIT:C159209
glycine encephalopathy (MONDO:0011612) oio:hasDbXref OMIMPS:605899
craniofacial microsomia (MONDO:0015397) oio:hasDbXref OMIMPS:164210
IFAP syndrome (MONDO:0100212) oio:hasDbXref Orphanet:2273
mitochondrial trifunctional protein deficiency (MONDO:0012172) oio:hasDbXref OMIMPS:609015
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) oio:hasDbXref Orphanet:652487
familial adenomatous polyposis 4 (MONDO:0044300) oio:hasDbXref GARD:17868
C1Q deficiency (MONDO:0013343) oio:hasDbXref OMIMPS:613652
cervical adenoid basal carcinoma (MONDO:0006132) oio:hasDbXref GARD:20499
cervical adenoid basal carcinoma (MONDO:0006132) oio:hasDbXref ICD10CM:C53.0
cervical adenoid basal carcinoma (MONDO:0006132) oio:hasDbXref Orphanet:213828
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasDbXref OMIM:616568
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasDbXref Orphanet:251627
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasDbXref Orphanet:251630
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) oio:hasDbXref Orphanet:457223
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) oio:hasDbXref GARD:17799
chronic recurrent multifocal osteomyelitis (MONDO:0009813) oio:hasDbXref OMIMPS:609628
mismatch repair cancer syndrome (MONDO:0031219) oio:hasDbXref Orphanet:252202
nevoid basal cell carcinoma syndrome (MONDO:0007187) oio:hasDbXref OMIMPS:109400
Mappings removed: 21
Subject Predicate Object
Leber hereditary optic neuropathy, autosomal recessive (MONDO:0030309) oio:hasDbXref OMIM:619382
oculopharyngeal muscular dystrophy (MONDO:0008116) oio:hasDbXref OMIM:164300
oculopharyngeal muscular dystrophy (MONDO:0008116) oio:hasDbXref NCIT:C84942
Lafora disease (MONDO:0009697) oio:hasDbXref OMIM:254780
cholesteryl ester storage disease (MONDO:0019149) oio:hasDbXref Orphanet:275761
bradyopsia (MONDO:0012033) oio:hasDbXref OMIM:608415
bradyopsia (MONDO:0012033) oio:hasDbXref DOID:0070363
FG syndrome (MONDO:0002010) oio:hasDbXref OMIMPS:305400
mismatch repair cancer syndrome 1 (MONDO:0010159) oio:hasDbXref Orphanet:252202
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) oio:hasDbXref Orphanet:2273
hematuria, benign familial, 1 (MONDO:0007709) oio:hasDbXref MESH:C562476
hematuria, benign familial, 1 (MONDO:0007709) oio:hasDbXref DOID:0111365
hematuria, benign familial, 1 (MONDO:0007709) oio:hasDbXref Orphanet:97562
glycine encephalopathy (MONDO:0011612) oio:hasDbXref OMIM:605899
craniofacial microsomia (MONDO:0015397) oio:hasDbXref OMIM:164210
mitochondrial trifunctional protein deficiency (MONDO:0012172) oio:hasDbXref OMIM:609015
C1Q deficiency (MONDO:0013343) oio:hasDbXref OMIM:613652
chronic recurrent multifocal osteomyelitis (MONDO:0009813) oio:hasDbXref OMIM:259680
nevoid basal cell carcinoma syndrome (MONDO:0007187) oio:hasDbXref OMIM:109400
restrictive dermopathy 1 (MONDO:0800042) oio:hasDbXref Orphanet:1662
intracerebral hemorrhage (MONDO:0013792) oio:hasDbXref OMIM:614519
Synonyms added: 121
Term New Synonym Predicate
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) parkinsonism-dystonia, infantile, 2 oio:hasExactSynonym
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) PKDYS2 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 21 (MONDO:0011351) autosomal recessive nonsyndromic hearing loss 21 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 77 (MONDO:0013119) autosomal recessive nonsyndromic hearing loss 77 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 3 (MONDO:0010860) autosomal recessive nonsyndromic hearing loss 3 oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss 10 (MONDO:0011031) autosomal dominant nonsyndromic hearing loss 10 oio:hasExactSynonym
cancer or benign tumor (MONDO:0045024) cell proliferation disorder oio:hasRelatedSynonym
autosomal recessive nonsyndromic hearing loss 28 (MONDO:0012355) autosomal recessive nonsyndromic hearing loss 28 oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) lethal restrictive dermopathy oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) lethal hyperkeratosis-contracture syndrome oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) lethal tight skin-contracture syndrome oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) tight skin contracture syndrome oio:hasExactSynonym
restrictive dermopathy (MONDO:0031213) hyperkeratosis-contracture syndrome oio:hasNarrowSynonym
autosomal recessive nonsyndromic hearing loss 22 (MONDO:0011762) autosomal recessive nonsyndromic hearing loss 22 oio:hasExactSynonym
hearing loss, autosomal recessive 57 (MONDO:0033201) hearing loss, autosomal recessive 57 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 29 (MONDO:0013537) autosomal recessive nonsyndromic hearing loss 29 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 1A (MONDO:0009076) autosomal recessive nonsyndromic hearing loss 1A oio:hasExactSynonym
supranuclear palsy, progressive, 1 (MONDO:0010997) Steele-Richardson-Olszewski syndrome oio:hasBroadSynonym
supranuclear palsy, progressive, 1 (MONDO:0010997) Steele-Richardson-Olszewski disease oio:hasBroadSynonym
spondyloepiphyseal dysplasia (MONDO:0016761) SED oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 84A (MONDO:0013249) autosomal recessive nonsyndromic hearing loss 84A oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 7 (MONDO:0010967) autosomal recessive nonsyndromic hearing loss 7 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 98 (MONDO:0013929) autosomal recessive nonsyndromic hearing loss 98 oio:hasExactSynonym
ACTB-associated syndromic thrombocytopenia (MONDO:0100433) thrombocytopenia 8, with dysmorphic features and developmental delay oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 31 (MONDO:0011767) autosomal recessive nonsyndromic hearing loss 31 oio:hasExactSynonym
progressive supranuclear palsy (MONDO:0019037) Steele-Richardson-Olszewski syndrome oio:hasExactSynonym
progressive supranuclear palsy (MONDO:0019037) Steele-Richardson-Olszewski disease oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 84B (MONDO:0013984) autosomal recessive nonsyndromic hearing loss 84B oio:hasExactSynonym
distal hereditary motor neuropathy (MONDO:0018894) neuronopathy, distal hereditary motor oio:hasExactSynonym
ATF6-related retinopathy (MONDO:0100447) ATF6-related retinopathy oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 67 (MONDO:0012460) autosomal recessive nonsyndromic hearing loss 67 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 91 (MONDO:0013269) autosomal recessive nonsyndromic hearing loss 91 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 48 (MONDO:0012273) autosomal recessive nonsyndromic hearing loss 48 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 42 (MONDO:0012326) autosomal recessive nonsyndromic hearing loss 42 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 6 (MONDO:0010965) autosomal recessive nonsyndromic hearing loss 6 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 18B (MONDO:0013985) autosomal recessive nonsyndromic hearing loss 18B oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 59 (MONDO:0012445) autosomal recessive nonsyndromic hearing loss 59 oio:hasExactSynonym
carbamoyl phosphate synthetase I deficiency disease (MONDO:0009376) carbamoyl-phosphate synthase deficiency disease oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss 70 (MONDO:0014853) autosomal dominant nonsyndromic hearing loss 70 oio:hasExactSynonym
hypoplasminogenemia (MONDO:0009009) plasminogen deficiency, type 1 oio:hasExactSynonym
hypoplasminogenemia (MONDO:0009009) plasminogen deficiency, type I oio:hasExactSynonym
hypoplasminogenemia (MONDO:0009009) type 1 plasminogen deficiency oio:hasExactSynonym
lysosomal acid lipase deficiency (MONDO:0800449) LAL deficiency oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 102 (MONDO:0014428) autosomal recessive nonsyndromic hearing loss 102 oio:hasExactSynonym
nonsyndromic genetic hearing loss (MONDO:0019497) nonsyndromic genetic hearing loss oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 30 (MONDO:0011774) autosomal recessive nonsyndromic hearing loss 30 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 68 (MONDO:0012485) autosomal recessive nonsyndromic hearing loss 68 oio:hasExactSynonym
LCA5-related retinopathy (MONDO:0100445) LCA5-related retinopathy oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 49 (MONDO:0012420) autosomal recessive nonsyndromic hearing loss 49 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 63 (MONDO:0012670) autosomal recessive nonsyndromic hearing loss 63 oio:hasExactSynonym
RPE65-related recessive retinopathy (MONDO:0100368) RPE65-related recessive retinopathy oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 39 (MONDO:0012003) autosomal recessive nonsyndromic hearing loss 39 oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) immunodeficiency, pure oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) immunodeficiency, isolated oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked MSMD due to IKBKG deficiency oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked MSMD due to NEMO deficiency oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) IKBKG X-linked mendelian susceptibility to mycobacterial diseases oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) IPD2 oio:hasExactSynonym
immunodeficiency 33 (MONDO:0010386) X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 12 (MONDO:0011067) autosomal recessive nonsyndromic hearing loss 12 oio:hasExactSynonym
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) ichthyosis follicularis-alopecia-photophobia syndrome oio:hasBroadSynonym
tooth agenesis, selective, 1 (MONDO:0007129) MSX1-related tooth agenesis with or without orofacial cleft oio:hasExactSynonym
hematuria, benign familial, 1 (MONDO:0007709) hematuria, familial benign oio:hasBroadSynonym
hematuria, benign familial, 1 (MONDO:0007709) hematuria, benign familial oio:hasBroadSynonym
prelingual non-syndromic genetic hearing loss (MONDO:0016297) prelingual non-syndromic genetic hearing loss oio:hasExactSynonym
hearing loss, X-linked 6 (MONDO:0010484) hearing loss, X-linked 6 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 89 (MONDO:0013489) autosomal recessive nonsyndromic hearing loss 89 oio:hasExactSynonym
hearing loss, autosomal recessive (MONDO:0019588) hearing loss, autosomal recessive oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 24 (MONDO:0012602) autosomal recessive nonsyndromic hearing loss 24 oio:hasExactSynonym
intellectual disability, autosomal dominant 42 (MONDO:0014855) GNB1-related neurodevelopmental disorder oio:hasExactSynonym
X-linked hereditary sensory and autonomic neuropathy with hearing loss (MONDO:0010378) X-linked hereditary sensory and autonomic neuropathy with hearing loss oio:hasExactSynonym
IFAP syndrome (MONDO:0100212) ichthyosis follicularis-alopecia-photophobia syndrome oio:hasExactSynonym
IFAP syndrome (MONDO:0100212) IFAP syndrome oio:hasExactSynonym
IFAP syndrome (MONDO:0100212) ichthyosis follicularis-atrichia-photophobia syndrome oio:hasExactSynonym
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 (MONDO:0033556) muscular dystrophy, congenital, DPM3-related oio:hasRelatedSynonym
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome oio:hasExactSynonym
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) autosomal dominant intellectual developmental disorder-72 oio:hasExactSynonym
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) SRRM2-related neurodevelopmental disorder oio:hasExactSynonym
intellectual developmental disorder, autosomal dominant 72 (MONDO:0957397) MRD72 oio:hasExactSynonym
familial adenomatous polyposis 4 (MONDO:0044300) MSH3-related attenuated familial adenomatous polyposis oio:hasExactSynonym
familial adenomatous polyposis 4 (MONDO:0044300) MSH3-related attenuated FAP oio:hasExactSynonym
familial adenomatous polyposis 4 (MONDO:0044300) MSH3-related AFAP oio:hasExactSynonym
familial adenomatous polyposis 4 (MONDO:0044300) MSH3-related attenuated familial polyposis coli oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 93 (MONDO:0013963) autosomal recessive nonsyndromic hearing loss 93 oio:hasExactSynonym
cervical adenoid basal carcinoma (MONDO:0006132) skin adenoid basal cell carcinoma of uterine cervix oio:hasExactSynonym
cervical adenoid basal carcinoma (MONDO:0006132) adenoid basal carcinoma of the cervix uteri oio:hasExactSynonym
cervical adenoid basal carcinoma (MONDO:0006132) uterine cervix skin adenoid basal cell carcinoma oio:hasExactSynonym
cervical adenoid basal carcinoma (MONDO:0006132) cervical adenoid basal carcinoma oio:hasExactSynonym
leukoencephalopathy, diffuse hereditary, with spheroids 1 (MONDO:0800027) CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oio:hasExactSynonym
leukoencephalopathy, diffuse hereditary, with spheroids 1 (MONDO:0800027) CSF1R-related ALSP oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) glioma susceptibility type 9 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) malignant glioma caused by mutation in POT1 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) GLM9 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) glioma susceptibility 9 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) susceptibility to cutaneous malignant melanoma 10 oio:hasExactSynonym
tumor predisposition syndrome 3 (MONDO:0014368) CMM10 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 37 (MONDO:0011912) autosomal recessive nonsyndromic hearing loss 37 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 36 (MONDO:0012170) autosomal recessive nonsyndromic hearing loss 36 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 8 (MONDO:0010987) autosomal recessive nonsyndromic hearing loss 8 oio:hasExactSynonym
Pelizeaus-Merzbacher spectrum disorder (MONDO:0010714) Pelizeaus-Merzbacher spectrum disorder oio:hasExactSynonym
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) syndromic sensorineural hearing loss due to COXPD oio:hasExactSynonym
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) syndromic sensorineural deafness due to COXPD oio:hasExactSynonym
combined oxidative phosphorylation deficiency 34 (MONDO:0054741) syndromic sensorineural deafness due to combined oxidative phosphorylation defect oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 79 (MONDO:0013215) autosomal recessive nonsyndromic hearing loss 79 oio:hasExactSynonym
susceptibility to familial cutaneous melanoma (MONDO:0024462) melanoma, cutaneous malignant oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 25 (MONDO:0013210) autosomal recessive nonsyndromic hearing loss 25 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 9 (MONDO:0010986) autosomal recessive nonsyndromic hearing loss 9 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 16 (MONDO:0011364) autosomal recessive nonsyndromic hearing loss 16 oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss (MONDO:0019587) autosomal dominant nonsyndromic hearing loss oio:hasExactSynonym
pregnancy disorder with abortive outcome (MONDO:0041526) intrauterine fetal death oio:hasExactSynonym
pregnancy disorder with abortive outcome (MONDO:0041526) IUFD oio:hasExactSynonym
pregnancy disorder with abortive outcome (MONDO:0041526) intrauterine fetal demise oio:hasExactSynonym
pregnancy disorder with abortive outcome (MONDO:0041526) stillbirth oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 35 (MONDO:0012060) autosomal recessive nonsyndromic hearing loss 35 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 76 (MONDO:0014237) autosomal recessive nonsyndromic hearing loss 76 oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss 12 (MONDO:0011102) autosomal dominant nonsyndromic hearing loss 12 oio:hasExactSynonym
autosomal recessive nonsyndromic hearing loss 15 (MONDO:0011160) autosomal recessive nonsyndromic hearing loss 15 oio:hasExactSynonym
X-linked mixed hearing loss with perilymphatic gusher (MONDO:0010576) X-linked mixed hearing loss with perilymphatic gusher oio:hasExactSynonym
autosomal dominant nonsyndromic hearing loss 40 (MONDO:0014603) autosomal dominant nonsyndromic hearing loss 40 oio:hasExactSynonym
Synonym predicates changed: 14
Term Old Predicate New Predicate Synonym
cancer or benign tumor (MONDO:0045024) oio:hasExactSynonym oio:hasRelatedSynonym cell proliferation disorder
supranuclear palsy, progressive, 1 (MONDO:0010997) oio:hasExactSynonym oio:hasBroadSynonym Steele-Richardson-Olszewski syndrome
supranuclear palsy, progressive, 1 (MONDO:0010997) oio:hasExactSynonym oio:hasBroadSynonym Steele-Richardson-Olszewski disease
progressive supranuclear palsy (MONDO:0019037) oio:hasNarrowSynonym oio:hasExactSynonym Steele-Richardson-Olszewski syndrome
hypoplasminogenemia (MONDO:0009009) oio:hasRelatedSynonym oio:hasExactSynonym plasminogen deficiency, type I
hypoplasminogenemia (MONDO:0009009) oio:hasRelatedSynonym oio:hasExactSynonym type 1 plasminogen deficiency
hypoplasminogenemia (MONDO:0009009) oio:hasRelatedSynonym oio:hasExactSynonym plasminogen deficiency, type 1
immunodeficiency 33 (MONDO:0010386) oio:hasRelatedSynonym oio:hasExactSynonym IPD2
immunodeficiency 33 (MONDO:0010386) oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, isolated
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) oio:hasExactSynonym oio:hasBroadSynonym ichthyosis follicularis-alopecia-photophobia syndrome
hematuria, benign familial, 1 (MONDO:0007709) oio:hasExactSynonym oio:hasBroadSynonym hematuria, familial benign
hematuria, benign familial, 1 (MONDO:0007709) oio:hasExactSynonym oio:hasBroadSynonym hematuria, benign familial
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasRelatedSynonym oio:hasExactSynonym CMM10
tumor predisposition syndrome 3 (MONDO:0014368) oio:hasRelatedSynonym oio:hasExactSynonym susceptibility to cutaneous malignant melanoma 10
Synonyms removed: 23
Term Removed Synonym
Leber hereditary optic neuropathy, autosomal recessive (MONDO:0030309) mitochondrial complex 1 deficiency, nuclear type 38
aniridia 2 (MONDO:0014937) aniridia 2; AN2
spondyloepiphyseal dysplasia (MONDO:0016761) spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
spondyloepiphyseal dysplasia (MONDO:0016761) SED and SEMD
carbamoyl phosphate synthetase I deficiency disease (MONDO:0009376) deficiency disease
carbamoyl phosphate synthetase I deficiency disease (MONDO:0009376) carbamoyl-phosphate synthase
hypoplasminogenemia (MONDO:0009009) plasminogen deficiency, type 2
hypoplasminogenemia (MONDO:0009009) Dysplasminogenemia
cholesteryl ester storage disease (MONDO:0019149) LAL deficiency
immunodeficiency 33 (MONDO:0010386) immunodeficiency, Pure
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) ichthyosis follicularis-atrichia-photophobia syndrome
IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213) IFAP syndrome
tooth agenesis, selective, 1 (MONDO:0007129) tooth agenesis, selective, with orofacial cleft
tooth agenesis, selective, 1 (MONDO:0007129) hypodontia/oligodontia with orofacial cleft
craniofacial microsomia (MONDO:0015397) craniofacial microsomia
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 (MONDO:0033556) Muscular Dystrophy, Congenital, Dpm3-Related
epidermolytic ichthyosis (MONDO:0007239) epidermolytic hyperkeratosis
epidermolytic ichthyosis (MONDO:0007239) epidermolytic hyperkeratosis, late-onset
restrictive dermopathy 1 (MONDO:0800042) lethal restrictive dermopathy
restrictive dermopathy 1 (MONDO:0800042) tight skin contracture syndrome
intracerebral hemorrhage (MONDO:0013792) ich
intracerebral hemorrhage (MONDO:0013792) hemorrhage, intracerebral, susceptibility to
intracerebral hemorrhage (MONDO:0013792) stroke, hemorrhagic, susceptibility to
Edges removed: 165
Subject Predicate Object
obsolete secondary acute transverse myelitis (MONDO:0015343) subClassOf (rdfs:subClassOf) acute transverse myelitis (MONDO:0015342)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255) subClassOf (rdfs:subClassOf) syndromic disease (MONDO:0002254)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255) subClassOf (rdfs:subClassOf) synostosis (MONDO:0001411)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
obsolete blepharophimosis-radioulnar synostosis syndrome (MONDO:0015255) subClassOf (rdfs:subClassOf) congenital limb malformation (MONDO:0019054)
nasopharyngeal carcinoma, susceptibility to, 1 (MONDO:0011775) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete syndromic sensorineural deafness due to combined oxidative phosphorylation defect (MONDO:0018706) subClassOf (rdfs:subClassOf) mitochondrial oxidative phosphorylation disorder (MONDO:0016387)
colorectal cancer, susceptibility to, 12 (MONDO:0014038) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
congenital myasthenic syndrome 14 (MONDO:0014543) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/23159
corticosterone methyloxidase type 2 deficiency (MONDO:0012524) subClassOf (rdfs:subClassOf) obsolete familial hyperreninemic hypoaldosteronism type 1 (MONDO:0020489)
colorectal cancer, susceptibility to, 4 (MONDO:0800423) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
hereditary breast ovarian cancer syndrome (MONDO:0003582) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
cholangiocarcinoma, susceptibility to (MONDO:0014281) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
follicular lymphoma, susceptibility to, 1 (MONDO:0013088) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to leptin receptor gene deficiency (MONDO:0013992) subClassOf (rdfs:subClassOf) isolated congenital hypogonadotropic hypogonadism (MONDO:0016553)
obesity due to leptin receptor gene deficiency (MONDO:0013992) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (MONDO:0700042) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/5961
obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (MONDO:0700042) subClassOf (rdfs:subClassOf) X-linked Mendelian susceptibility to mycobacterial diseases (MONDO:0017905)
obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (MONDO:0700042) predisposes towards (predisposes_towards) mycobacterial infectious disease (MONDO:0020590)
obsolete pyogenic autoinflammatory syndrome of childhood (MONDO:0957404) subClassOf (rdfs:subClassOf) autoinflammatory syndrome (MONDO:0019751)
oculopharyngeal muscular dystrophy (MONDO:0008116) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/8565
CDH1-related diffuse gastric and lobular breast cancer syndrome (MONDO:0100488) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 4 (MONDO:0011954) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 4 (MONDO:0011954) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
leukemia, chronic lymphocytic, susceptibility to, 3 (MONDO:0012934) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
supranuclear palsy, progressive, 1 (MONDO:0010997) subClassOf (rdfs:subClassOf) inherited neurodegenerative disorder (MONDO:0024237)
leukemia, acute myeloid, susceptibility to (MONDO:0100173) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, acute lymphocytic, susceptibility to, 1 (MONDO:0013108) has characteristic (RO:0000053) PATO:0000389
leukemia, acute lymphocytic, susceptibility to, 1 (MONDO:0013108) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
glioma susceptibility (MONDO:0100242) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
erythroleukemia, familial, susceptibility to (MONDO:0007573) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuroblastoma, susceptibility to, 7 (MONDO:0014774) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuroblastoma, susceptibility to, 2 (MONDO:0700041) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuroblastoma, susceptibility to, 3 (MONDO:0013083) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
pancreatic cancer, susceptibility to, 4 (MONDO:0013685) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to congenital leptin deficiency (MONDO:0013991) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
obesity due to congenital leptin deficiency (MONDO:0013991) subClassOf (rdfs:subClassOf) isolated congenital hypogonadotropic hypogonadism (MONDO:0016553)
leukemia, acute lymphoblastic, susceptibility to, 3 (MONDO:0014241) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
sterile multifocal osteomyelitis with periostitis and pustulosis (MONDO:0013021) subClassOf (rdfs:subClassOf) hereditary disorder of connective tissue (MONDO:0023603)
sterile multifocal osteomyelitis with periostitis and pustulosis (MONDO:0013021) subClassOf (rdfs:subClassOf) immune system disorder (MONDO:0005046)
sterile multifocal osteomyelitis with periostitis and pustulosis (MONDO:0013021) subClassOf (rdfs:subClassOf) autoinflammatory syndrome (MONDO:0019751)
colorectal cancer, susceptibility to, 6 (MONDO:0012822) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuronopathy, distal hereditary motor, autosomal dominant (MONDO:0015362) subClassOf (rdfs:subClassOf) obsolete neuronopathy, distal hereditary motor (MONDO:0000075)
colorectal cancer, susceptibility to, 10 (MONDO:0012953) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
pancreatic cancer, susceptibility to, 1 (MONDO:0011739) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
corticosterone methyloxidase type 1 deficiency (MONDO:0008751) subClassOf (rdfs:subClassOf) obsolete familial hyperreninemic hypoaldosteronism type 1 (MONDO:0020489)
obesity due to SIM1 deficiency (MONDO:0018244) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
familial schizencephaly (MONDO:0018829) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
obsolete MSH3-related attenuated familial adenomatous polyposis (MONDO:0018812) subClassOf (rdfs:subClassOf) attenuated familial adenomatous polyposis (MONDO:0016362)
leukemia, chronic lymphocytic, susceptibility to, 1 (MONDO:0012318) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
ovarian cancer, familial, susceptibility to, 1 (MONDO:0800433) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 1 (MONDO:0012132) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuroblastoma, susceptibility to, 5 (MONDO:0013085) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
ovarian cancer, susceptibility to, 1 (MONDO:0011931) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
ovarian cancer, familial, susceptibility to, 2 (MONDO:0800434) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 7 (MONDO:0012842) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 7 (MONDO:0012842) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
colorectal cancer, susceptibility to, 8 (MONDO:0012951) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, acute lymphocytic, susceptibility to, 2 (MONDO:0013109) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, acute lymphocytic, susceptibility to, 2 (MONDO:0013109) has characteristic (RO:0000053) PATO:0000389
melanoma, cutaneous malignant, susceptibility to, 5 (MONDO:0013133) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 5 (MONDO:0013133) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
syndromic complex neurodevelopmental disorder (MONDO:0800439) subClassOf (rdfs:subClassOf) neurodevelopmental disorder (MONDO:0700092)
obesity due to prohormone convertase I deficiency (MONDO:0010961) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
obesity due to prohormone convertase I deficiency (MONDO:0010961) subClassOf (rdfs:subClassOf) isolated congenital hypogonadotropic hypogonadism (MONDO:0016553)
obsolete parkinsonism-dystonia, infantile, 2 (MONDO:0054836) subClassOf (rdfs:subClassOf) parkinsonism-dystonia, infantile (MONDO:0013150)
leukemia, chronic lymphocytic, susceptibility to, 4 (MONDO:0012935) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
nasopharyngeal carcinoma, susceptibility to, 2 (MONDO:0008067) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
prostate cancer/brain cancer susceptibility (MONDO:0011361) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
breast cancer, familial, susceptibility to, 1 (MONDO:0800418) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
juvenile breast papillomatosis (MONDO:0003955) subClassOf (rdfs:subClassOf) obsolete breast papillomatosis (MONDO:0002063)
neuroblastoma, susceptibility to, 6 (MONDO:0013086) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 5 (MONDO:0012821) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
hematuria, benign familial, 1 (MONDO:0007709) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
colorectal cancer, susceptibility to, on chromosome 15 (MONDO:0800424) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
pancreatic cancer, susceptibility to, 5 (MONDO:0032867) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
pancreatic cancer, susceptibility to, 2 (MONDO:0013235) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 3 (MONDO:0012183) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 3 (MONDO:0012183) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete limbic encephalitis with nCMAgs antibodies (MONDO:0015593) subClassOf (rdfs:subClassOf) limbic encephalitis (MONDO:0015588)
intraductal breast papillomatosis (MONDO:0004253) subClassOf (rdfs:subClassOf) intraductal papilloma (MONDO:0002060)
intraductal breast papillomatosis (MONDO:0004253) subClassOf (rdfs:subClassOf) obsolete breast papillomatosis (MONDO:0002063)
colorectal cancer, susceptibility to, 7 (MONDO:0012823) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
hemangioma, capillary infantile, susceptibility to (MONDO:0100301) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate (MONDO:0100199) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) hematologic disorder (MONDO:0005570)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) autoinflammatory syndrome (MONDO:0019751)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) immune system disorder (MONDO:0005046)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) hereditary disorder of connective tissue (MONDO:0023603)
obsolete adenoid basal carcinoma of the cervix uteri (MONDO:0016287) subClassOf (rdfs:subClassOf) cervical squamous cell carcinoma (MONDO:0006143)
obsolete adenoid basal carcinoma of the cervix uteri (MONDO:0016287) has characteristic (RO:0000053) rare (MONDO:0021136)
obsolete adenoid basal carcinoma of the cervix uteri (MONDO:0016287) subClassOf (rdfs:subClassOf) skin adenoid basal cell carcinoma (MONDO:0002951)
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469) subClassOf (rdfs:subClassOf) inherited thrombocytopenia (MONDO:0100241)
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/7217
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469) subClassOf (rdfs:subClassOf) congenital anemia (MONDO:0000577)
obsolete congenital amegakaryocytic thrombocytopenia (MONDO:0011469) subClassOf (rdfs:subClassOf) inherited aplastic anemia (MONDO:0001713)
multiple epiphyseal dysplasia, Al-Gazali type (MONDO:0011778) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/30497
neuronopathy, distal hereditary motor, autosomal recessive (MONDO:0015363) subClassOf (rdfs:subClassOf) obsolete neuronopathy, distal hereditary motor (MONDO:0000075)
lung cancer susceptibility 5 (MONDO:0013631) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
neuroblastoma, susceptibility to, 4 (MONDO:0013084) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
lung cancer susceptibility 3 (MONDO:0012942) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 11 (MONDO:0012954) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
foveal hypoplasia 1 (MONDO:0007628) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/8620
colorectal cancer, susceptibility to, 9 (MONDO:0012952) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
Martsolf syndrome (MONDO:0023910) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
obsolete familial hyperreninemic hypoaldosteronism type 1 (MONDO:0020489) subClassOf (rdfs:subClassOf) familial hypoaldosteronism (MONDO:0018541)
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (MONDO:0017994) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
NTHL1-deficiency tumor predisposition syndrome (MONDO:0100502) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
NTHL1-deficiency tumor predisposition syndrome (MONDO:0100502) predisposes towards (predisposes_towards) neoplasm (MONDO:0005070)
melanoma, cutaneous malignant, susceptibility to, 6 (MONDO:0013510) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 6 (MONDO:0013510) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
breast cancer, familial, susceptibility to, 3 (MONDO:0800420) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete lethal idiopathic viral infection (MONDO:0018110) subClassOf (rdfs:subClassOf) viral infectious disease (MONDO:0005108)
obsolete lethal idiopathic viral infection (MONDO:0018110) has characteristic (RO:0000053) rare (MONDO:0021136)
obsolete lethal idiopathic viral infection (MONDO:0018110) subClassOf (rdfs:subClassOf) idiopathic disease (MONDO:0700007)
leukemia, chronic lymphocytic, susceptibility to, 2 (MONDO:0007190) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
cervical adenoid basal carcinoma (MONDO:0006132) subClassOf (rdfs:subClassOf) cervical carcinoma (MONDO:0005131)
obsolete absent thumb-short stature-immunodeficiency syndrome (MONDO:0010123) subClassOf (rdfs:subClassOf) immune system disorder (MONDO:0005046)
obsolete absent thumb-short stature-immunodeficiency syndrome (MONDO:0010123) subClassOf (rdfs:subClassOf) syndromic disease (MONDO:0002254)
obsolete absent thumb-short stature-immunodeficiency syndrome (MONDO:0010123) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
tumor predisposition syndrome 3 (MONDO:0014368) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
tumor predisposition syndrome 3 (MONDO:0014368) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) has characteristic (RO:0000053) HP:0000006
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, chronic lymphocytic, susceptibility to, 5 (MONDO:0012936) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
epilepsy, early-onset, with or without developmental delay (MONDO:0030005) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
susceptibility to familial cutaneous melanoma (MONDO:0024462) subClassOf (rdfs:subClassOf) hereditary skin disorder (MONDO:0100118)
susceptibility to familial cutaneous melanoma (MONDO:0024462) subClassOf (rdfs:subClassOf) familial melanoma (MONDO:0018961)
melanoma, cutaneous malignant, susceptibility to, 1 (MONDO:0007963) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
melanoma, cutaneous malignant, susceptibility to, 1 (MONDO:0007963) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
obsolete neuronopathy, distal hereditary motor (MONDO:0000075) subClassOf (rdfs:subClassOf) motor neuron disorder (MONDO:0020128)
melanoma, cutaneous malignant, susceptibility to, 8 (MONDO:0013759) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 8 (MONDO:0013759) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
colorectal cancer, susceptibility to, 2 (MONDO:0012673) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
PAX6-related ocular dysgenesis (MONDO:0800183) subClassOf (rdfs:subClassOf) eye disorder (MONDO:0005328)
pancreatic cancer, susceptibility to, 3 (MONDO:0013236) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to pro-opiomelanocortin deficiency (MONDO:0012335) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
isolated optic nerve hypoplasia (MONDO:0008136) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
isolated optic nerve hypoplasia (MONDO:0008136) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/8620
colorectal cancer, susceptibility to, 3 (MONDO:0012820) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
ovarian cancer, familial, susceptibility to, 3 (MONDO:0800435) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete glioma susceptibility 9 (MONDO:0014695) has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/17284
obsolete glioma susceptibility 9 (MONDO:0014695) subClassOf (rdfs:subClassOf) glioma susceptibility (MONDO:0100242)
lung cancer susceptibility 1 (MONDO:0012159) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete idiopathic recurrent and disabling cutaneous herpes (MONDO:0018107) has characteristic (RO:0000053) rare (MONDO:0021136)
obsolete idiopathic recurrent and disabling cutaneous herpes (MONDO:0018107) subClassOf (rdfs:subClassOf) viral infectious disease (MONDO:0005108)
obsolete idiopathic recurrent and disabling cutaneous herpes (MONDO:0018107) subClassOf (rdfs:subClassOf) idiopathic disease (MONDO:0700007)
obsolete neuronal ceroid lipofuscinosis, late infantile (MONDO:0800297) subClassOf (rdfs:subClassOf) neuronal ceroid lipofuscinosis (MONDO:0016295)
lung cancer susceptibility 4 (MONDO:0012955) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
nasopharyngeal carcinoma, susceptibility to, 3 (MONDO:0014902) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
breast cancer, familial, susceptibility to, 2 (MONDO:0800419) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
susceptibility to uveal melanoma (MONDO:0007966) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to melanocortin 4 receptor deficiency (MONDO:0019115) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
neuroblastoma, susceptibility to, 1 (MONDO:0009741) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obesity due to CEP19 deficiency (MONDO:0014309) subClassOf (rdfs:subClassOf) obsolete hereditary non-syndromic obesity (MONDO:0020075)
progressive supranuclear palsy-parkinsonism syndrome (MONDO:0009839) subClassOf (rdfs:subClassOf) inherited neurodegenerative disorder (MONDO:0024237)
Warburg micro syndrome (MONDO:0016649) subClassOf (rdfs:subClassOf) syndromic microphthalmia (MONDO:0016073)
obsolete hereditary non-syndromic obesity (MONDO:0020075) has characteristic (RO:0000053) has an isolated presentation (MONDO:0021128)
obsolete hereditary non-syndromic obesity (MONDO:0020075) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
melanoma, cutaneous malignant, susceptibility to, 9 (MONDO:0014056) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
melanoma, cutaneous malignant, susceptibility to, 9 (MONDO:0014056) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
obsolete breast papillomatosis (MONDO:0002063) subClassOf (rdfs:subClassOf) papilloma (MONDO:0002363)
obsolete breast papillomatosis (MONDO:0002063) subClassOf (rdfs:subClassOf) papillomatosis (MONDO:0021098)
obsolete breast papillomatosis (MONDO:0002063) subClassOf (rdfs:subClassOf) breast benign neoplasm (MONDO:0000620)
New relationships added: 129
Subject Predicate Object
brain dopamine-serotonin vesicular transport disease (MONDO:0018130) subClassOf (rdfs:subClassOf) parkinsonism-dystonia, infantile (MONDO:0013150)
nasopharyngeal carcinoma, susceptibility to, 1 (MONDO:0011775) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 12 (MONDO:0014038) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
congenital myasthenic syndrome 14 (MONDO:0014543) subClassOf (rdfs:subClassOf) ALG2-congenital disorder of glycosylation (MONDO:0011933)
corticosterone methyloxidase type 2 deficiency (MONDO:0012524) subClassOf (rdfs:subClassOf) familial hypoaldosteronism (MONDO:0018541)
nephrolithiasis susceptibility caused by SLC26A1 (MONDO:0020722) subClassOf (rdfs:subClassOf) nephrolithiasis, calcium oxalate (MONDO:0957318)
colorectal cancer, susceptibility to, 4 (MONDO:0800423) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
cholangiocarcinoma, susceptibility to (MONDO:0014281) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
follicular lymphoma, susceptibility to, 1 (MONDO:0013088) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
obesity due to leptin receptor gene deficiency (MONDO:0013992) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
obesity due to leptin receptor gene deficiency (MONDO:0013992) subClassOf (rdfs:subClassOf) congenital hypogonadotropic hypogonadism (MONDO:0015770)
obesity due to leptin receptor gene deficiency (MONDO:0013992) has characteristic (RO:0000053) congenital (MONDO:0021140)
aniridia 2 (MONDO:0014937) subClassOf (rdfs:subClassOf) eye carcinoma (MONDO:0002466)
aniridia 2 (MONDO:0014937) subClassOf (rdfs:subClassOf) hereditary renal cell carcinoma (MONDO:0003008)
aniridia 2 (MONDO:0014937) subClassOf (rdfs:subClassOf) iris cancer (MONDO:0002658)
aniridia 2 (MONDO:0014937) subClassOf (rdfs:subClassOf) SMARCB1-deficient kidney medullary carcinoma (MONDO:0100534)
CDH1-related diffuse gastric and lobular breast cancer syndrome (MONDO:0100488) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 4 (MONDO:0011954) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
leukemia, chronic lymphocytic, susceptibility to, 3 (MONDO:0012934) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
hereditary neoplastic syndrome (MONDO:0015356) subClassOf (rdfs:subClassOf) inherited disease susceptibility (MONDO:0020573)
leukemia, acute myeloid, susceptibility to (MONDO:0100173) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, acute lymphocytic, susceptibility to, 1 (MONDO:0013108) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, acute lymphocytic, susceptibility to, 1 (MONDO:0013108) subClassOf (rdfs:subClassOf) acute disease (MONDO:0020683)
glioma susceptibility (MONDO:0100242) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
erythroleukemia, familial, susceptibility to (MONDO:0007573) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
neuroblastoma, susceptibility to, 7 (MONDO:0014774) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
neuroblastoma, susceptibility to, 2 (MONDO:0700041) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
neuroblastoma, susceptibility to, 3 (MONDO:0013083) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
progressive supranuclear palsy (MONDO:0019037) subClassOf (rdfs:subClassOf) inherited neurodegenerative disorder (MONDO:0024237)
pancreatic cancer, susceptibility to, 4 (MONDO:0013685) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
obesity due to congenital leptin deficiency (MONDO:0013991) has characteristic (RO:0000053) congenital (MONDO:0021140)
obesity due to congenital leptin deficiency (MONDO:0013991) subClassOf (rdfs:subClassOf) congenital hypogonadotropic hypogonadism (MONDO:0015770)
obesity due to congenital leptin deficiency (MONDO:0013991) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
leukemia, acute lymphoblastic, susceptibility to, 3 (MONDO:0014241) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
sterile multifocal osteomyelitis with periostitis and pustulosis (MONDO:0013021) subClassOf (rdfs:subClassOf) chronic recurrent multifocal osteomyelitis (MONDO:0009813)
colorectal cancer, susceptibility to, 6 (MONDO:0012822) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 10 (MONDO:0012953) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
pancreatic cancer, susceptibility to, 1 (MONDO:0011739) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
corticosterone methyloxidase type 1 deficiency (MONDO:0008751) subClassOf (rdfs:subClassOf) familial hypoaldosteronism (MONDO:0018541)
obesity due to SIM1 deficiency (MONDO:0018244) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
familial schizencephaly (MONDO:0018829) subClassOf (rdfs:subClassOf) COL4A1-related disorder (MONDO:0800461)
leukemia, chronic lymphocytic, susceptibility to, 1 (MONDO:0012318) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome (MONDO:0012726) subClassOf (rdfs:subClassOf) cardiovascular disorder (MONDO:0004995)
ovarian cancer, familial, susceptibility to, 1 (MONDO:0800433) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 1 (MONDO:0012132) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
neuroblastoma, susceptibility to, 5 (MONDO:0013085) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
ovarian cancer, susceptibility to, 1 (MONDO:0011931) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
ovarian cancer, familial, susceptibility to, 2 (MONDO:0800434) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 7 (MONDO:0012842) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
colorectal cancer, susceptibility to, 8 (MONDO:0012951) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, acute lymphocytic, susceptibility to, 2 (MONDO:0013109) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, acute lymphocytic, susceptibility to, 2 (MONDO:0013109) subClassOf (rdfs:subClassOf) acute disease (MONDO:0020683)
Kaposi sarcoma, susceptibility to (MONDO:0007845) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 5 (MONDO:0013133) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
syndromic complex neurodevelopmental disorder (MONDO:0800439) subClassOf (rdfs:subClassOf) complex neurodevelopmental disorder (MONDO:0100038)
obesity due to prohormone convertase I deficiency (MONDO:0010961) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
obesity due to prohormone convertase I deficiency (MONDO:0010961) subClassOf (rdfs:subClassOf) congenital hypogonadotropic hypogonadism (MONDO:0015770)
obesity due to prohormone convertase I deficiency (MONDO:0010961) has characteristic (RO:0000053) congenital (MONDO:0021140)
leukemia, chronic lymphocytic, susceptibility to, 4 (MONDO:0012935) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
nasopharyngeal carcinoma, susceptibility to, 2 (MONDO:0008067) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
prostate cancer/brain cancer susceptibility (MONDO:0011361) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
epilepsy, early-onset, vitamin B6-dependent (MONDO:0015005) subClassOf (rdfs:subClassOf) epilepsy, early-onset (MONDO:0957599)
breast cancer, familial, susceptibility to, 1 (MONDO:0800418) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
juvenile breast papillomatosis (MONDO:0003955) subClassOf (rdfs:subClassOf) intraductal breast papillomatosis (MONDO:0004253)
neuroblastoma, susceptibility to, 6 (MONDO:0013086) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 5 (MONDO:0012821) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
hematuria, benign familial, 1 (MONDO:0007709) subClassOf (rdfs:subClassOf) hematuria, benign familial (MONDO:0957317)
colorectal cancer, susceptibility to, on chromosome 15 (MONDO:0800424) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
pancreatic cancer, susceptibility to, 5 (MONDO:0032867) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
pancreatic cancer, susceptibility to, 2 (MONDO:0013235) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 3 (MONDO:0012183) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
colorectal cancer, susceptibility to, 7 (MONDO:0012823) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
hemangioma, capillary infantile, susceptibility to (MONDO:0100301) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate (MONDO:0100199) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
Majeed syndrome (MONDO:0012316) subClassOf (rdfs:subClassOf) chronic recurrent multifocal osteomyelitis (MONDO:0009813)
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 (MONDO:0033556) subClassOf (rdfs:subClassOf) DPM3-congenital disorder of glycosylation (MONDO:0013049)
multiple epiphyseal dysplasia, Al-Gazali type (MONDO:0011778) subClassOf (rdfs:subClassOf) KIF7-related ciliopathy (MONDO:0800463)
lung cancer susceptibility 5 (MONDO:0013631) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
neuroblastoma, susceptibility to, 4 (MONDO:0013084) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
basal cell carcinoma, susceptibility to, 7 (MONDO:0013876) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
lung cancer susceptibility 3 (MONDO:0012942) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 11 (MONDO:0012954) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
colorectal cancer, susceptibility to, 9 (MONDO:0012952) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
Martsolf syndrome (MONDO:0023910) subClassOf (rdfs:subClassOf) RAB18 deficiency (MONDO:0700247)
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (MONDO:0017994) subClassOf (rdfs:subClassOf) hereditary disease (MONDO:0003847)
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (MONDO:0017994) subClassOf (rdfs:subClassOf) syndromic disease (MONDO:0002254)
NTHL1-deficiency tumor predisposition syndrome (MONDO:0100502) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 6 (MONDO:0013510) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
breast cancer, familial, susceptibility to, 3 (MONDO:0800420) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
leukemia, chronic lymphocytic, susceptibility to, 2 (MONDO:0007190) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
cervical adenoid basal carcinoma (MONDO:0006132) subClassOf (rdfs:subClassOf) skin adenoid basal cell carcinoma (MONDO:0002951)
cervical adenoid basal carcinoma (MONDO:0006132) subClassOf (rdfs:subClassOf) cervical squamous cell carcinoma (MONDO:0006143)
cervical adenoid basal carcinoma (MONDO:0006132) has characteristic (RO:0000053) rare (MONDO:0021136)
tumor predisposition syndrome 3 (MONDO:0014368) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
melanoma, cutaneous malignant, susceptibility to, 2 (MONDO:0007964) subClassOf (rdfs:subClassOf) autosomal dominant disease (MONDO:0000426)
leukemia, chronic lymphocytic, susceptibility to, 5 (MONDO:0012936) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
epilepsy, early-onset, with or without developmental delay (MONDO:0030005) subClassOf (rdfs:subClassOf) epilepsy, early-onset (MONDO:0957599)
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (MONDO:0009364) subClassOf (rdfs:subClassOf) muscle-eye-brain disease (MONDO:0018939)
susceptibility to familial cutaneous melanoma (MONDO:0024462) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
melanoma, cutaneous malignant, susceptibility to, 1 (MONDO:0007963) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
melanoma, cutaneous malignant, susceptibility to, 8 (MONDO:0013759) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
colorectal cancer, susceptibility to, 2 (MONDO:0012673) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
PAX6-related ocular dysgenesis (MONDO:0800183) subClassOf (rdfs:subClassOf) SMARCB1-deficient kidney medullary carcinoma (MONDO:0100534)
PAX6-related ocular dysgenesis (MONDO:0800183) subClassOf (rdfs:subClassOf) eye carcinoma (MONDO:0002466)
PAX6-related ocular dysgenesis (MONDO:0800183) subClassOf (rdfs:subClassOf) hereditary renal cell carcinoma (MONDO:0003008)
pancreatic cancer, susceptibility to, 3 (MONDO:0013236) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
obesity due to pro-opiomelanocortin deficiency (MONDO:0012335) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
colorectal cancer, susceptibility to, 3 (MONDO:0012820) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
chronic recurrent multifocal osteomyelitis (MONDO:0009813) subClassOf (rdfs:subClassOf) hereditary disorder of connective tissue (MONDO:0023603)
Amish lethal microcephaly (MONDO:0011790) subClassOf (rdfs:subClassOf) Mendelian neurodevelopmental disorder (MONDO:0100500)
Amish lethal microcephaly (MONDO:0011790) subClassOf (rdfs:subClassOf) microcephaly (MONDO:0001149)
ovarian cancer, familial, susceptibility to, 3 (MONDO:0800435) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
aniridia 3 (MONDO:0014938) subClassOf (rdfs:subClassOf) eye carcinoma (MONDO:0002466)
aniridia 3 (MONDO:0014938) subClassOf (rdfs:subClassOf) hereditary renal cell carcinoma (MONDO:0003008)
aniridia 3 (MONDO:0014938) subClassOf (rdfs:subClassOf) iris cancer (MONDO:0002658)
aniridia 3 (MONDO:0014938) subClassOf (rdfs:subClassOf) SMARCB1-deficient kidney medullary carcinoma (MONDO:0100534)
lung cancer susceptibility 1 (MONDO:0012159) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
lung cancer susceptibility 4 (MONDO:0012955) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
nasopharyngeal carcinoma, susceptibility to, 3 (MONDO:0014902) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
breast cancer, familial, susceptibility to, 2 (MONDO:0800419) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
susceptibility to uveal melanoma (MONDO:0007966) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
paraneoplastic syndrome (MONDO:0021073) subClassOf (rdfs:subClassOf) cancer-related condition (MONDO:0045054)
obesity due to melanocortin 4 receptor deficiency (MONDO:0019115) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
neuroblastoma, susceptibility to, 1 (MONDO:0009741) subClassOf (rdfs:subClassOf) hereditary neoplastic syndrome (MONDO:0015356)
obesity due to CEP19 deficiency (MONDO:0014309) subClassOf (rdfs:subClassOf) inherited obesity (MONDO:0019182)
Warburg micro syndrome (MONDO:0016649) subClassOf (rdfs:subClassOf) RAB18 deficiency (MONDO:0700247)
melanoma, cutaneous malignant, susceptibility to, 9 (MONDO:0014056) subClassOf (rdfs:subClassOf) susceptibility to familial cutaneous melanoma (MONDO:0024462)
melanoma, cutaneous malignant, susceptibility to, 9 (MONDO:0014056) subClassOf (rdfs:subClassOf) glioma susceptibility (MONDO:0100242)
Predicates changed: 6
Subject Old Predicate New Predicate Object
DPM3-congenital disorder of glycosylation (MONDO:0013049) subClassOf (rdfs:subClassOf) excluded subClassOf (excluded_subClassOf) familial dilated cardiomyopathy (MONDO:0016333)
hereditary neoplastic syndrome (MONDO:0015356) excluded subClassOf (excluded_subClassOf) subClassOf (rdfs:subClassOf) neoplastic syndrome (MONDO:0021058)
progressive supranuclear palsy (MONDO:0019037) subClassOf (rdfs:subClassOf) disease arises from feature (RO:0004022) neurodegenerative disease (MONDO:0005559)
susceptibility to familial cutaneous melanoma (MONDO:0024462) subClassOf (rdfs:subClassOf) predisposes towards (predisposes_towards) cutaneous melanoma (MONDO:0005012)
PAX6-related ocular dysgenesis (MONDO:0800183) RO:0004001 has material basis in germline mutation in (RO:0004003) http://identifiers.org/hgnc/8620
COL4A1-related disorder (MONDO:0800461) subClassOf (rdfs:subClassOf) excluded subClassOf (excluded_subClassOf) vascular disorder (MONDO:0005385)

@hrshdhgd hrshdhgd marked this pull request as ready for review March 2, 2024 04:00
@hrshdhgd hrshdhgd requested a review from cmungall March 2, 2024 04:00
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For any questions about KGCL the best place is the KGCL issue tracker, you can look up any Change class like this kgcl:NodeMove

@hrshdhgd hrshdhgd merged commit 388c78b into main Mar 14, 2024
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@hrshdhgd hrshdhgd deleted the release-notes-emit branch March 14, 2024 02:15
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For any questions about KGCL the best place is the KGCL issue tracker, you can look up any Change class like this kgcl:NodeMove

@matentzn , @twhetzel

cmungall added a commit that referenced this pull request Mar 18, 2024
cmungall added a commit that referenced this pull request Mar 18, 2024
* Adding a more efficient diff implementation for simpleobo.
Undoing some of #605

* ruffruff

* fixing tests
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4 participants