diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 0db786a932..5d62d538b4 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -10616,7 +10616,7 @@ xref: OMIM:218000 {source="ORDO:1496/e", source="Orphanet:1496", source="DOID:00 xref: Orphanet:1496 {source="DOID:0060600", source="DOID:0090003", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="OMIM:218000"} xref: SCTID:702439002 {source="MONDO:equivalentTo"} xref: UMLS:C0795950 {source="ORDO:1496/e", source="Orphanet:1496", source="NCBI:mim2gene_medline", source="DOID:0060600", source="MONDO:equivalentTo", source="OMIM:218000"} -is_a: MONDO:0016131 {source="Orphanet:1496"} ! spinal muscular atrophy associated with central nervous system anomaly +is_a: MONDO:0016113 {source="MONDO:0016131-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! bulbospinal muscular atrophy is_a: MONDO:0017122 {source="Orphanet:1496"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10914 {source="mim2gene_medgen"} ! SLC12A6 property_value: confidence "0.04999999999999982" xsd:double @@ -12938,7 +12938,7 @@ xref: SCTID:388981000 {source="DOID:10426"} xref: SCTID:5601008 {source="DOID:10426", source="MONDO:equivalentTo"} xref: UMLS:C0022738 {source="NCIT:C98967", source="DOID:10426", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000839 {source="DOID:10426", source="ICD10:Q76.1/inferred", source="linkedlifedata/inferred"} ! congenital abnormality -is_a: MONDO:0019711 {source="MONDO:cjm"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome xsd:anyURI {source="GARD:0010280"} [Term] @@ -38609,8 +38609,8 @@ is_a: MONDO:0015218 {source="Orphanet:861"} ! syndromic developmental defect of is_a: MONDO:0015321 {source="Orphanet:861"} ! Pierre Robin syndrome associated with branchial archs anomalies is_a: MONDO:0015334 {source="Orphanet:861"} ! branchial arch or oral-acral syndrome is_a: MONDO:0015483 {source="Orphanet:861"} ! mandibulofacial dysostosis +is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0019589 {source="Orphanet:861"} ! syndromic genetic deafness -is_a: MONDO:0019710 {source="Orphanet:861", source="Orphanet:861/inferred"} ! dysostosis with predominant craniofacial involvement is_a: MONDO:0020157 {source="Orphanet:861"} ! syndromic palpebral coloboma is_a: MONDO:0020167 {source="Orphanet:861"} ! malposition of external canthus is_a: MONDO:0020169 {source="Orphanet:861"} ! rare disorder with ptosis @@ -120148,7 +120148,7 @@ xref: SCTID:405769009 {source="MONDO:equivalentTo", source="DOID:1921"} xref: SCTID:405770005 {source="DOID:1921"} xref: UMLS:C0022735 {source="MONDO:equivalentTo", source="NCIT:C34752", source="DOID:1921"} is_a: MONDO:0015652 {source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature -is_a: MONDO:0017001 {source="MONDO:cjm"} ! X chromosome number anomaly with male phenotype +is_a: MONDO:0016999 {source="MONDO:0017001-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! X chromosome number anomaly is_a: MONDO:0017975 {source="MONDO:cjm"} ! sex chromosome disorder of sex development is_a: MONDO:0019040 {source="DOID:1921", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! chromosomal anomaly is_a: MONDO:0020090 {source="MONDO:cjm"} ! male infertility due to gonadal dysgenesis @@ -124509,7 +124509,7 @@ xref: UMLS:C1863390 {source="OMIM:101200", source="MONDO:notFoundInDiseaseSubset xref: UMLS:C1863391 {source="OMIM:101200", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015322 {source="Orphanet:87"} ! Pierre Robin syndrome associated with bone disease is_a: MONDO:0019796 {source="NCIT:C99099", source="Orphanet:87", source="linkedlifedata"} ! acrocephalosyndactyly -is_a: MONDO:0020254 {source="Orphanet:87"} ! craniostenosis associated with a strabismus +is_a: MONDO:0020253 {source="MONDO:0020254-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with a symptomatic strabismus relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3689 {source="mim2gene_medgen"} ! FGFR2 [Term] @@ -124551,7 +124551,7 @@ xref: UMLS:C1863371 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:101400 is_a: MONDO:0015945 {source="Orphanet:794"} ! polymalformative genetic syndrome with increased risk of developing cancer is_a: MONDO:0019796 {source="DOID:14768", source="NCIT:C75034", source="Orphanet:794", source="linkedlifedata"} ! acrocephalosyndactyly is_a: MONDO:0020169 {source="Orphanet:794"} ! rare disorder with ptosis -is_a: MONDO:0020254 {source="Orphanet:794"} ! craniostenosis associated with a strabismus +is_a: MONDO:0020253 {source="MONDO:0020254-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with a symptomatic strabismus property_value: confidence "1.75625" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7598/saethre-chotzen-syndrome xsd:anyURI {source="GARD:0007598"} @@ -124587,7 +124587,7 @@ xref: UMLS:C1863356 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis xref: UMLS:C2931888 {source="Orphanet:710", source="MONDO:notFoundInDiseaseSubset", source="ORDO:710/e"} is_a: MONDO:0000078 {source="https://en.wikipedia.org/wiki/Acrocephalosyndactylia"} ! acrocephalopolysyndactyly is_a: MONDO:0019796 {source="DOID:14705", source="NCIT:C99100", source="Orphanet:710", source="indirect", source="linkedlifedata"} ! acrocephalosyndactyly -is_a: MONDO:0020254 {source="Orphanet:710"} ! craniostenosis associated with a strabismus +is_a: MONDO:0020253 {source="MONDO:0020254-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with a symptomatic strabismus property_value: confidence "1.75625" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome xsd:anyURI {source="GARD:0007380"} @@ -125354,7 +125354,12 @@ xref: SCTID:58833000 {source="MONDO:equivalentTo"} xref: UMLS:C0033806 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline"} xref: UMLS:C2931404 {source="MONDO:equivalentTo"} xref: UMLS:C3494506 {source="OMIM:103580", source="MONDO:equivalentTo", source="NCIT:C129721", source="ORDO:79443/e", source="Orphanet:79443"} -is_a: MONDO:0018699 {source="Orphanet:79443"} ! pseudohypoparathyroidism with Albright hereditary osteodystrophy +is_a: MONDO:0016565 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndromic genetic obesity +is_a: MONDO:0018798 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! other genetic dermis disorder +is_a: MONDO:0019695 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! acromelic dysplasia +is_a: MONDO:0019992 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism +is_a: MONDO:0020232 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! musculoskeletal disease with cataract +is_a: MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dermis disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4392 {source="mim2gene_medgen"} ! GNAS relationship: disease_has_feature HP:0001513 ! Obesity relationship: disease_has_feature HP:0004322 ! Short stature @@ -126530,7 +126535,7 @@ xref: SCTID:55815007 {source="DOID:6652"} xref: UMLS:C0020498 {source="DOID:6652", source="OMIM:106400", source="MONDO:equivalentTo", source="NCIT:C84671"} xref: UMLS:C1862851 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002185 {source="MESH:D004057", source="NCIT:C84671", source="linkedlifedata"} ! hyperostosis -is_a: MONDO:0019711 {source="Orphanet:2206"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin relationship: excluded_subClassOf MONDO:0002123 {source="DOID:6652"} ! calcinosis property_value: confidence "1.1176470588235294" xsd:double @@ -128588,7 +128593,8 @@ xref: MESH:C537930 {source="MONDO:equivalentTo", source="Orphanet:1118", source= xref: OMIM:113310 {source="MONDO:equivalentTo", source="Orphanet:1118", source="ORDO:1118/e"} xref: Orphanet:1118 {source="MONDO:equivalentTo", source="OMIM:113310"} xref: UMLS:C1862100 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:113310", source="Orphanet:1118", source="ORDO:1118/e"} -is_a: MONDO:0017433 {source="Orphanet:1118"} ! dysostosis with combined reduction defects of upper and lower limbs +is_a: MONDO:0015226 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with limb malformations as a major feature +is_a: MONDO:0018455 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin with limb anomaly as a major feature property_value: confidence "8.6" xsd:double [Term] @@ -129394,7 +129400,7 @@ xref: SCTID:763320005 {source="MONDO:equivalentTo"} xref: UMLS:C2676032 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:114620", source="Orphanet:363705"} is_a: MONDO:0015159 {source="Orphanet:363705"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016175 {source="Orphanet:363705"} ! cutis laxa -is_a: MONDO:0019710 {source="Orphanet:363705"} ! dysostosis with predominant craniofacial involvement +is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin [Term] id: MONDO:0007260 @@ -130452,7 +130458,7 @@ xref: Orphanet:1393 {source="OMIM:117650", source="MONDO:equivalentTo"} xref: SCTID:51780007 {source="MONDO:equivalentTo"} xref: UMLS:C0265342 {source="OMIM:117650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1393/e", source="Orphanet:1393"} is_a: MONDO:0015160 {source="Orphanet:1393", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome -is_a: MONDO:0019711 {source="Orphanet:1393"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1393"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11153 {source="mim2gene_medgen"} ! SNRPB property_value: confidence "8.375" xsd:double @@ -130796,7 +130802,7 @@ xref: SCTID:253185002 {source="MONDO:equivalentTo"} xref: UMLS:C0750929 {source="OMIM:118420", source="Orphanet:268882", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:268882/e"} xref: UMLS:C1861647 {source="OMIM:118420", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0000115 {source="DC-OMIM:118420", source="linkedlifedata"} ! Chiari malformation -is_a: MONDO:0017085 {source="Orphanet:268882"} ! malformation of the neurenteric canal, spinal cord and column +is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect property_value: confidence "25.875" xsd:double [Term] @@ -131346,7 +131352,7 @@ xref: UMLS:C1838416 {source="OMIM:119600", source="MONDO:notFoundInDiseaseSubset xref: UMLS:C1861516 {source="OMIM:119600", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="NCIT:C75020"} ! syndromic disease is_a: MONDO:0005516 {source="DOID:13994", source="MESH:D002973"} ! osteochondrodysplasia -is_a: MONDO:0019709 {source="Orphanet:1452"} ! cleidocranial dysplasia and isolated cranial ossification defect +is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary bone dysplasia is_a: MONDO:0020014 {source="Orphanet:1452"} ! rare disease with odontological manifestation is_a: MONDO:0020018 {source="Orphanet:1452"} ! cranial malformation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10472 {source="mim2gene_medgen"} ! RUNX2 @@ -131574,7 +131580,7 @@ xref: OMIM:120300 {source="MONDO:equivalentTo", source="Orphanet:98945", source= xref: Orphanet:98945 {source="MONDO:equivalentTo", source="OMIM:120300"} xref: UMLS:C1852767 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:120300"} is_a: MONDO:0001476 {source="Orphanet:98945"} ! coloboma -is_a: MONDO:0020243 {source="Orphanet:98945"} ! colobomatous and areolar dystrophy +is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic macular dystrophy property_value: confidence "0.045454545454545636" xsd:double [Term] @@ -131632,7 +131638,7 @@ xref: OMIM:120400 {source="MONDO:equivalentTo", source="Orphanet:1471", source=" xref: Orphanet:1471 {source="MONDO:equivalentTo", source="OMIM:120400"} xref: SCTID:717785002 {source="MONDO:equivalentTo"} xref: UMLS:C1852752 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:120400", source="Orphanet:1471", source="ORDO:1471/e"} -is_a: MONDO:0020243 {source="Orphanet:1471"} ! colobomatous and areolar dystrophy +is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic macular dystrophy property_value: confidence "7.125" xsd:double [Term] @@ -132778,7 +132784,7 @@ xref: UMLS:C2931196 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:123500 xref: UMLS:CN200892 {source="MONDO:equivalentTo"} is_a: MONDO:0015338 {source="Orphanet:207"} ! syndromic craniosynostosis is_a: MONDO:0018234 {source="DOID:2339/inferred", source="MESH:D003394", source="MONDO:Redundant", source="NCIT:C84653", source="Orphanet:207/inferred"} ! dysostosis -is_a: MONDO:0020254 {source="Orphanet:207"} ! craniostenosis associated with a strabismus +is_a: MONDO:0020253 {source="MONDO:0020254-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with a symptomatic strabismus relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3689 {source="mim2gene_medgen"} ! FGFR2 property_value: confidence "5.666666666666665" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome xsd:anyURI {source="GARD:0006206"} @@ -133330,10 +133336,10 @@ xref: OMIMPS:125310 {source="MONDO:equivalentTo"} xref: Orphanet:136 {source="DOID:13945", source="OMIM:125310", source="MONDO:superClassOf"} xref: UMLS:C1272305 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002254 {source="MONDOLEX:0007432", source="NCIT:C84606"} ! syndromic disease +is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:136", source="Orphanet:136/inferred"} ! genetic dementia is_a: MONDO:0018787 {source="Orphanet:136"} ! genetic cerebral small vessel disease is_a: MONDO:0020144 {source="Orphanet:136"} ! cerebrovascular dementia -is_a: MONDO:0020262 {source="Orphanet:136"} ! nervous system anomaly with eye involvement relationship: excluded_subClassOf MONDO:0019046 {source="DOID:13945"} ! leukodystrophy property_value: confidence "0.9675925925925928" xsd:double @@ -135572,7 +135578,7 @@ xref: OMIM:130720 {source="MONDO:equivalentTo", source="ORDO:2789/e", source="Or xref: Orphanet:2789 {source="MONDO:equivalentTo", source="OMIM:130720"} xref: UMLS:C0344487 {source="ORDO:2789/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2789"} xref: UMLS:C1851710 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2789/e", source="Orphanet:2789", source="OMIM:130720"} -is_a: MONDO:0017085 {source="Orphanet:2789"} ! malformation of the neurenteric canal, spinal cord and column +is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7883 {source="mim2gene_medgen"} ! NOTCH3 property_value: confidence "8.375" xsd:double @@ -136713,9 +136719,10 @@ xref: Orphanet:3023 {source="OMIM:133705", source="MONDO:equivalentTo"} xref: UMLS:C1876181 {source="OMIM:133705", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2930867 {source="Orphanet:3023", source="MONDO:equivalentTo", source="ORDO:3023/e"} is_a: MONDO:0015161 {source="Orphanet:3023", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability -is_a: MONDO:0015502 {source="Orphanet:3023"} ! pinnae and external auditory canal anomaly is_a: MONDO:0018235 {source="MONDO:Redundant", source="Orphanet:3023", source="indirect"} ! dysostosis with limb anomaly as a major feature is_a: MONDO:0018455 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:3023"} ! dysostosis of genetic origin with limb anomaly as a major feature +is_a: MONDO:0018562 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic otorhinolaryngological malformation +is_a: MONDO:0019936 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare otorhinolaryngological malformation is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:3023"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: confidence "8.333333333333334" xsd:double @@ -137598,7 +137605,7 @@ xref: OMIM:136550 {source="ORDO:75327/e", source="MONDO:equivalentTo", source="O xref: Orphanet:75327 {source="OMIM:136550", source="MONDO:equivalentTo"} xref: SCTID:312925009 {source="MONDO:equivalentTo"} xref: UMLS:C0730294 {source="OMIM:136550", source="ORDO:75327/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:75327"} -is_a: MONDO:0020243 {source="Orphanet:75327"} ! colobomatous and areolar dystrophy +is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic macular dystrophy relationship: disease_has_basis_in_dysfunction_of NCBIGene:107305681 {source="mim2gene_medgen"} property_value: confidence "3.7222222222222223" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy xsd:anyURI {source="GARD:0009179"} @@ -138463,7 +138470,7 @@ xref: OMIM:607823 {source="MONDO:superClassOf", source="ORDO:69735/btnt"} xref: Orphanet:2087 {source="OMIM:137940"} xref: Orphanet:69735 {source="MONDO:equivalentTo"} is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:69735", source="Orphanet:69735/inferred"} ! genetic vascular anomaly -is_a: MONDO:0018722 {source="Orphanet:69735"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="Orphanet:69735"} ! syndromic lymphedema [Term] @@ -139331,7 +139338,7 @@ xref: UMLS:C0220681 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis xref: UMLS:C0265240 {source="MONDO:superClassOf", source="Orphanet:2549"} is_a: MONDO:0015161 {source="Orphanet:2549", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015334 {source="Orphanet:2549"} ! branchial arch or oral-acral syndrome -is_a: MONDO:0019710 {source="Orphanet:2549"} ! dysostosis with predominant craniofacial involvement +is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:2549"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: confidence "0.16666666666666652" xsd:double @@ -143875,8 +143882,8 @@ xref: UMLS:C1835265 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo" xref: UMLS:C3501946 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2526"} is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:2526", source="Orphanet:2526/inferred"} ! genetic vascular anomaly is_a: MONDO:0017119 {source="Orphanet:2526"} ! syndrome with microcephaly as major feature -is_a: MONDO:0018722 {source="Orphanet:2526"} ! primary lymphedema with associated anomalies is_a: MONDO:0019118 {source="Orphanet:2526"} ! inherited retinal dystrophy +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:2526"} ! syndromic lymphedema relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6388 {source="mim2gene_medgen"} ! KIF11 relationship: disease_has_feature MONDO:0019118 {source="modified-Orphanet:2526"} ! inherited retinal dystrophy @@ -143968,7 +143975,7 @@ xref: SCTID:45342007 {source="DOID:0050468"} xref: UMLS:C0221348 {source="NCIT:C85238", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0050468", source="OMIM:153300", source="Orphanet:662"} is_a: MONDO:0002254 {source="DOID:0050468", source="MONDO:Redundant", source="NCIT:C85238", source="indirect"} ! syndromic disease is_a: MONDO:0017017 {source="Orphanet:662"} ! primary interstitial lung disease specific to childhood due to alveolar vascular disorder -is_a: MONDO:0018722 {source="Orphanet:662"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019285 {source="Orphanet:662"} ! syndromic nail anomaly is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:662"} ! syndromic lymphedema property_value: confidence "4.277777777777779" xsd:double @@ -143997,7 +144004,7 @@ xref: UMLS:C0265345 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo" xref: UMLS:C2675066 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:153400"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C128191", source="indirect"} ! syndromic disease is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:33001", source="Orphanet:33001/inferred"} ! genetic vascular anomaly -is_a: MONDO:0018722 {source="Orphanet:33001"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:33001"} ! syndromic lymphedema is_a: MONDO:0020162 {source="Orphanet:33001"} ! secondary ectropion relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3801 {source="mim2gene_medgen"} ! FOXC2 @@ -144144,7 +144151,7 @@ xref: UMLS:C0024419 {source="Orphanet:33226", source="MONDO:equivalentTo", sourc xref: UMLS:C1835192 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:153600"} xref: UMLS:C3549870 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:153600"} is_a: MONDO:0000432 {source="DOID:0060901", source="NCIT:C80307", source="ONCOTREE:WM"} ! lymphoplasmacytic lymphoma -is_a: MONDO:0016138 {source="Orphanet:33226"} ! malignant lymphoma with peripheral neuropathy +is_a: MONDO:0016180 {source="MONDO:0016138-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hematological disease associated with an acquired peripheral neuropathy is_a: MONDO:0017594 {source="Orphanet:33226"} ! indolent B-cell non-Hodgkin lymphoma is_a: MONDO:0019052 ! inborn errors of metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7562 {source="mim2gene_medgen"} ! MYD88 @@ -145195,7 +145202,7 @@ xref: OMIM:155980 {source="Orphanet:3034", source="MONDO:equivalentTo", source=" xref: Orphanet:3034 {source="MONDO:equivalentTo", source="OMIM:155980"} xref: SCTID:715524004 {source="MONDO:equivalentTo"} xref: UMLS:C1835030 {source="Orphanet:3034", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:155980"} -is_a: MONDO:0019709 {source="Orphanet:3034"} ! cleidocranial dysplasia and isolated cranial ossification defect +is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary bone dysplasia is_a: MONDO:0020018 {source="Orphanet:3034"} ! cranial malformation property_value: confidence "7.125" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1727/delayed-membranous-cranial-ossification xsd:anyURI {source="GARD:0001727"} @@ -146740,8 +146747,10 @@ xref: OMIM:159950 {source="MONDO:equivalentTo", source="ORDO:2590/e", source="Or xref: Orphanet:2590 {source="MONDO:equivalentTo", source="OMIM:159950"} xref: SCTID:703524005 {source="MONDO:equivalentTo"} xref: UMLS:C1834569 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:159950", source="ORDO:2590/e", source="Orphanet:2590", source="GARD:0003044"} -is_a: MONDO:0017655 {source="Orphanet:2590"} ! progressive epilepsy and/or ataxia with myoclonus as a major feature +is_a: MONDO:0017652 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare disease with myoclonus as a major feature +is_a: MONDO:0017665 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare genetic disease with myoclonus as a major feature is_a: MONDO:0020128 {source="Orphanet:2590", source="Orphanet:2590/inferred"} ! motor neuron disease +is_a: MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! variable age onset epilepsy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/735 {source="mim2gene_medgen"} ! ASAH1 property_value: confidence "3.7222222222222223" xsd:double @@ -150166,7 +150175,7 @@ xref: MESH:C566825 {source="MONDO:equivalentTo"} xref: OMIM:168550 {source="MONDO:equivalentTo", source="Orphanet:251290", source="ORDO:251290/e"} xref: Orphanet:251290 {source="OMIM:168550", source="MONDO:equivalentTo"} xref: UMLS:C1868597 {source="NCBI:mim2gene_medline", source="OMIM:168550", source="MONDO:equivalentTo", source="Orphanet:251290"} -is_a: MONDO:0019709 {source="Orphanet:251290"} ! cleidocranial dysplasia and isolated cranial ossification defect +is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary bone dysplasia is_a: MONDO:0020018 {source="Orphanet:251290"} ! cranial malformation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7392 {source="mim2gene_medgen"} ! MSX2 property_value: confidence "8.375" xsd:double @@ -152511,7 +152520,7 @@ xref: UMLS:C1867774 {source="MONDO:superClassOf", source="OMIM:176450"} xref: UMLS:C1867775 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:176450"} is_a: MONDO:0015246 {source="Orphanet:1552"} ! syndromic anorectal malformation is_a: MONDO:0015846 {source="Orphanet:1552"} ! syndromic uterovaginal malformation -is_a: MONDO:0019711 {source="Orphanet:1552"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4979 {source="mim2gene_medgen"} ! MNX1 property_value: confidence "0.12499999999999978" xsd:double @@ -155072,10 +155081,10 @@ is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85063", source="ind is_a: MONDO:0013099 {source="MONDOLEX:0008428", source="OMIM:182230", source="ORDO:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form is_a: MONDO:0015218 {source="MONDO:Redundant", source="Orphanet:3157"} ! syndromic developmental defect of the eye is_a: MONDO:0015310 {source="Orphanet:3157"} ! syndromic optic nerve hypoplasia +is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease is_a: MONDO:0017120 {source="Orphanet:3157"} ! other syndrome with a central nervous system malformation as major feature is_a: MONDO:0019827 {source="Orphanet:3157"} ! disease associated with non-acquired combined pituitary hormone deficiency is_a: MONDO:0020149 {source="Orphanet:3157"} ! rare eye disease due to a differentiation anomaly -is_a: MONDO:0020262 {source="Orphanet:3157"} ! nervous system anomaly with eye involvement relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4877 {source="mim2gene_medgen"} ! HESX1 property_value: confidence "1.1441176470588243" xsd:double @@ -160242,7 +160251,7 @@ xref: OMIM:193670 {source="MONDO:equivalentTo", source="ORDO:51636/e", source="O xref: Orphanet:51636 {source="MONDO:equivalentTo", source="OMIM:193670"} xref: SCTID:234571003 {source="MONDO:equivalentTo"} xref: UMLS:C0472817 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:51636/e", source="Orphanet:51636", source="OMIM:193670", source="DOID:0060591"} -is_a: MONDO:0018032 {source="Orphanet:51636"} ! constitutional neutropenia with extra-hematopoietic manifestations +is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0018033 {source="Orphanet:51636"} ! other immunodeficiency syndromes due to defects in innate immunity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2561 {source="mim2gene_medgen"} ! CXCR4 property_value: confidence "4.277777777777779" xsd:double @@ -161833,7 +161842,8 @@ xref: Orphanet:95700 {source="MONDO:equivalentTo", source="OMIM:202150"} xref: UMLS:C1859978 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:95700", source="OMIM:202150"} is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:95700", source="Orphanet:95700/inferred"} ! adrenal gland disease is_a: MONDO:0015129 {source="Orphanet:95700", source="Orphanet:95700/inferred"} ! chronic primary adrenal insufficiency -is_a: MONDO:0015891 {source="Orphanet:95700"} ! hypogonadotropic hypogonadism associated with other endocrinopathies +is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism +is_a: MONDO:0018398 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! female infertility due to a congenital hypogonadotropic hypogonadism is_a: MONDO:0020042 {source="Orphanet:95700"} ! syndrome with 46,XY disorder of sex development relationship: has_modifier MONDO:0021136 {source="MONDO:0015971"} ! rare property_value: confidence "3.533333333333334" xsd:double @@ -162256,7 +162266,7 @@ xref: SCTID:42183005 {source="MONDO:equivalentTo"} xref: UMLS:C0271870 {source="ORDO:94090/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:94090"} xref: UMLS:C2932717 {source="OMIM:203330", source="ORDO:94090/e", source="MONDO:equivalentTo", source="Orphanet:94090"} xref: UMLS:CN206737 {source="MONDO:equivalentTo"} -is_a: MONDO:0018700 {source="Orphanet:94090"} ! pseudohypoparathyroidism without Albright hereditary osteodystrophy +is_a: MONDO:0019992 {source="MONDO:0018700-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism property_value: confidence "3.533333333333334" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2 xsd:anyURI {source="GARD:0010682"} @@ -163681,7 +163691,7 @@ xref: SCTID:720500008 {source="MONDO:equivalentTo"} xref: UMLS:C1859753 {source="OMIM:207731", source="NCBI:mim2gene_medline", source="Orphanet:1116", source="MONDO:notFoundInDiseaseSubset", source="ORDO:1116/e"} is_a: MONDO:0005020 {source="Orphanet:1116"} ! intestinal disease is_a: MONDO:0015331 {source="Orphanet:1116"} ! malformation syndrome with skin/mucosae involvement -is_a: MONDO:0018722 {source="Orphanet:1116"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019294 {source="Orphanet:1116"} ! mixed dermis disorder is_a: MONDO:0019520 {source="Orphanet:1116"} ! syndromic lymphedema relationship: has_modifier MONDO:0021136 {source="MONDO:0015616"} ! rare @@ -164191,7 +164201,7 @@ xref: OMIM:208300 {source="MONDO:equivalentTo", source="ORDO:1160/e", source="Or xref: Orphanet:1160 {source="OMIM:208300", source="MONDO:equivalentTo"} xref: SCTID:52985009 {source="MONDO:equivalentTo"} xref: UMLS:C0008732 {source="OMIM:208300", source="NCIT:C34482", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1160/e", source="Orphanet:1160"} -is_a: MONDO:0018722 {source="Orphanet:1160"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema relationship: has_modifier MONDO:0021136 {source="MONDO:0015621"} ! rare property_value: confidence "3.7222222222222223" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1359/chylous-ascites xsd:anyURI {source="GARD:0001359"} @@ -165861,7 +165871,7 @@ xref: Orphanet:1318 {source="OMIM:211890", source="MONDO:equivalentTo"} xref: SCTID:720599002 {source="MONDO:equivalentTo"} xref: UMLS:C1859371 {source="NCBI:mim2gene_medline", source="OMIM:211890", source="MONDO:equivalentTo", source="Orphanet:1318", source="ORDO:1318/e"} is_a: MONDO:0015160 {source="Orphanet:1318", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome -is_a: MONDO:0018722 {source="Orphanet:1318"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:1318"} ! syndromic lymphedema is_a: MONDO:0019698 {source="Orphanet:1318"} ! bent bone dysplasia is_a: MONDO:0043007 {source="Orphanet:1318"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -167137,7 +167147,7 @@ xref: SCTID:720635002 {source="MONDO:equivalentTo"} xref: UMLS:C1859252 {source="NCBI:mim2gene_medline", source="OMIM:213980", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:1394"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1394", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:1394"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0019711 {source="Orphanet:1394"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare property_value: confidence "9.0" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1210/cerebro-facio-thoracic-dysplasia xsd:anyURI {source="GARD:0001210"} @@ -167388,10 +167398,10 @@ xref: SCTID:123309000 {source="DOID:2935"} xref: SCTID:190696004 {source="DOID:2935"} xref: SCTID:191356000 {source="DOID:2935"} xref: UMLS:C0007965 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:214500", source="ORDO:167/e", source="DOID:2935", source="NCIT:C2941", source="Orphanet:167"} +is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0016132 {source="Orphanet:167"} ! rare hereditary disease with peripheral neuropathy is_a: MONDO:0017305 {source="Orphanet:167"} ! syndromic oculocutaneous albinism is_a: MONDO:0017739 {source="Orphanet:167"} ! disorder of lysosomal-related organelles -is_a: MONDO:0018032 {source="Orphanet:167"} ! constitutional neutropenia with extra-hematopoietic manifestations is_a: MONDO:0018042 {source="Orphanet:167"} ! immunodeficiency syndrome with abnormal pigmentation is_a: MONDO:0019305 {source="Orphanet:167"} ! immune deficiency with skin involvement is_a: MONDO:0020118 {source="Orphanet:167"} ! dense granule disease @@ -167508,7 +167518,7 @@ xref: SCTID:28724005 {source="MONDO:equivalentTo", source="DOID:6691"} xref: UMLS:C0268314 {source="NCBI:mim2gene_medline", source="NCIT:C35709", source="MONDO:equivalentTo", source="Orphanet:1414", source="DOID:6691", source="OMIM:214900"} is_a: MONDO:0002254 {source="DOID:6691", source="MONDO:Redundant", source="NCIT:C35709", source="indirect"} ! syndromic disease is_a: MONDO:0005154 {source="Orphanet:1414", source="Orphanet:1414/inferred"} ! liver disease -is_a: MONDO:0018722 {source="Orphanet:1414"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:1414"} ! syndromic lymphedema relationship: disease_has_feature HP:0001004 ! Lymphedema relationship: disease_has_feature HP:0001394 ! Cirrhosis @@ -167908,7 +167918,7 @@ xref: SCTID:231996009 {source="MONDO:equivalentTo"} xref: SCTID:312918002 {source="MONDO:equivalentTo"} xref: UMLS:C1536451 {source="Orphanet:75377", source="MONDO:notFoundInDiseaseSubset", source="OMIM:215500"} is_a: MONDO:0001898 {source="DC:0000084", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! optic choroid disease -is_a: MONDO:0020243 {source="Orphanet:75377"} ! colobomatous and areolar dystrophy +is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic macular dystrophy [Term] id: MONDO:0008983 @@ -168134,7 +168144,7 @@ xref: OMIM:216340 {source="DOID:0060589", source="MONDO:equivalentTo", source="O xref: Orphanet:3472 {source="MONDO:equivalentTo", source="OMIM:216340"} xref: UMLS:C1857663 {source="NCBI:mim2gene_medline", source="DOID:0060589", source="MONDO:equivalentTo", source="ORDO:3472/e", source="OMIM:216340", source="Orphanet:3472"} is_a: MONDO:0002254 {source="DOID:0060589", source="MONDOLEX:0008995"} ! syndromic disease -is_a: MONDO:0019709 {source="Orphanet:3472"} ! cleidocranial dysplasia and isolated cranial ossification defect +is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary bone dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16873 {source="mim2gene_medgen"} ! FIG4 property_value: confidence "5.666666666666667" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome xsd:anyURI {source="GARD:0000331"} @@ -168225,9 +168235,9 @@ xref: SCTID:56604005 {source="MONDO:equivalentTo"} xref: UMLS:C0265223 {source="OMIM:216550", source="NCBI:mim2gene_medline", source="ORDO:193/e", source="Orphanet:193", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1854061 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:193", source="indirect"} ! syndromic intellectual disability +is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0015159 {source="Orphanet:193"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016565 {source="Orphanet:193"} ! syndromic genetic obesity -is_a: MONDO:0018032 {source="Orphanet:193"} ! constitutional neutropenia with extra-hematopoietic manifestations is_a: MONDO:0020208 {source="Orphanet:193"} ! syndromic myopia is_a: MONDO:0020240 {source="Orphanet:193"} ! syndromic retinitis pigmentosa relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2183 {source="mim2gene_medgen"} ! VPS13B @@ -168269,7 +168279,7 @@ xref: SCTID:722463001 {source="MONDO:equivalentTo"} xref: UMLS:C1857619 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:216800"} is_a: MONDO:0015218 {source="Orphanet:91494"} ! syndromic developmental defect of the eye is_a: MONDO:0015335 {source="Orphanet:91494"} ! orofacial clefting syndrome -is_a: MONDO:0020243 {source="Orphanet:91494"} ! colobomatous and areolar dystrophy +is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic macular dystrophy property_value: confidence "8.333333333333334" xsd:double [Term] @@ -168769,7 +168779,7 @@ xref: Orphanet:1389 {source="MONDO:equivalentTo", source="OMIM:218010"} xref: UMLS:C1857568 {source="Orphanet:1389", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:218010"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1389", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:1389"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0020262 {source="Orphanet:1389"} ! nervous system anomaly with eye involvement +is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare property_value: confidence "8.6" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1548/cortical-blindness-intellectual-disability-polydactyly-syndrome xsd:anyURI {source="GARD:0001548"} @@ -170698,7 +170708,7 @@ xref: Orphanet:1671 {source="MONDO:equivalentTo", source="OMIM:222500"} xref: SCTID:49351009 {source="MONDO:equivalentTo"} xref: UMLS:C0011999 {source="Orphanet:1671", source="ORDO:1671/e", source="NCIT:C98913", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:222500"} is_a: MONDO:0002320 {source="NCIT:C98913", source="indirect"} ! congenital nervous system disorder -is_a: MONDO:0017085 {source="Orphanet:1671"} ! malformation of the neurenteric canal, spinal cord and column +is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect property_value: confidence "8.375" xsd:double [Term] @@ -171288,10 +171298,10 @@ xref: SCTID:204087006 {source="DOID:11589"} xref: SCTID:29159009 {source="DOID:11589", source="MONDO:equivalentTo"} xref: UMLS:C0013364 {source="DOID:11589", source="ORDO:1764/e", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C84706", source="Orphanet:1764", source="OMIM:223900"} is_a: MONDO:0015366 {source="Orphanet:1764"} ! autosomal recessive hereditary sensory and autonomic neuropathy +is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease is_a: MONDO:0015914 {source="Orphanet:1764"} ! primary orthostatic hypotension is_a: MONDO:0018798 {source="Orphanet:1764"} ! other genetic dermis disorder is_a: MONDO:0020194 {source="Orphanet:1764"} ! congenital alacrima -is_a: MONDO:0020262 {source="Orphanet:1764"} ! nervous system anomaly with eye involvement is_a: MONDO:0021154 {source="Orphanet:1764"} ! dermis disease is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5959 {source="mim2gene_medgen"} ! ELP1 @@ -173322,9 +173332,9 @@ xref: UMLS:C1412573 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:228000 xref: UMLS:C2936785 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:333/e", source="Orphanet:333"} xref: UMLS:CN204335 {source="MONDO:equivalentTo"} is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C84710", source="indirect"} ! inherited lipid metabolism disorder -is_a: MONDO:0018299 {source="Orphanet:333"} ! sphingolipidosis with epilepsy +is_a: MONDO:0016397 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! lysosomal disease with epilepsy is_a: MONDO:0019058 {source="Orphanet:333"} ! neurometabolic disease -is_a: MONDO:0019255 {source="MESH:D055577", source="Orphanet:333", source="indirect"} ! sphingolipidosis +is_a: MONDO:0019255 {source="MESH:D055577", source="MONDO:0018299-obsoleted", source="Orphanet:333", source="indirect"} ! sphingolipidosis is_a: MONDO:0019296 {source="Orphanet:333"} ! subcutaneous tissue disease is_a: MONDO:0020244 {source="Orphanet:333"} ! unclassified primitive or secondary maculopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/735 {source="mim2gene_medgen"} ! ASAH1 @@ -173382,7 +173392,8 @@ xref: OMIM:228200 {source="MONDO:equivalentTo", source="ORDO:2019/e", source="Or xref: Orphanet:2019 {source="OMIM:228200", source="MONDO:equivalentTo"} xref: UMLS:C1856790 {source="OMIM:228200", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:C2363814 {source="ORDO:2019/e", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2019"} -is_a: MONDO:0017433 {source="Orphanet:2019"} ! dysostosis with combined reduction defects of upper and lower limbs +is_a: MONDO:0015226 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with limb malformations as a major feature +is_a: MONDO:0018455 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin with limb anomaly as a major feature property_value: confidence "6.5" xsd:double [Term] @@ -173402,9 +173413,10 @@ xref: OMIM:228250 {source="MONDO:equivalentTo", source="ORDO:1986/e", source="Or xref: Orphanet:1986 {source="MONDO:equivalentTo", source="OMIM:228250"} xref: SCTID:716006003 {source="MONDO:equivalentTo"} xref: UMLS:C1856789 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:1986/e", source="Orphanet:1986", source="OMIM:228250"} +is_a: MONDO:0015226 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with limb malformations as a major feature is_a: MONDO:0017432 {source="Orphanet:1986"} ! syndrome with limb reduction defects -is_a: MONDO:0017433 {source="Orphanet:1986"} ! dysostosis with combined reduction defects of upper and lower limbs is_a: MONDO:0017434 {source="Orphanet:1986"} ! syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy +is_a: MONDO:0018455 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin with limb anomaly as a major feature property_value: confidence "9.0" xsd:double [Term] @@ -173958,11 +173970,11 @@ xref: SCTID:155011003 {source="DOID:12705"} xref: UMLS:C0016719 {source="MONDO:equivalentTo", source="DOID:12705", source="NCIT:C84718", source="ORDO:95/e", source="Orphanet:95"} xref: UMLS:C1847416 {source="OMIM:229300", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1856689 {source="OMIM:229300", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} +is_a: MONDO:0015368 {source="MONDO:0020264-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease is_a: MONDO:0016136 {source="Orphanet:95"} ! cerebellar ataxia with peripheral neuropathy is_a: MONDO:0016329 {source="Orphanet:95"} ! familial syndrome associated with hypertrophic cardiomyopathy is_a: MONDO:0019058 {source="Orphanet:95"} ! neurometabolic disease is_a: MONDO:0020046 {source="Orphanet:95"} ! autosomal recessive degenerative and progressive cerebellar ataxia -is_a: MONDO:0020264 {source="Orphanet:95"} ! spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3951 {source="mim2gene_medgen"} ! FXN property_value: confidence "1.7529411764705887" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia xsd:anyURI {source="GARD:0006468"} @@ -174519,10 +174531,11 @@ xref: Orphanet:77260 {source="OMIM:230900", source="DOID:0110958", source="MONDO xref: SCTID:12246008 {source="MONDO:equivalentTo"} xref: UMLS:C0268250 {source="OMIM:230900", source="ORDO:77260/e", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:77260"} is_a: MONDO:0002561 {source="DOID:0110958/inferred", source="Orphanet:77260/inferred", source="PMID:21723623", source="indirect"} ! lysosomal storage disease +is_a: MONDO:0016397 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! lysosomal disease with epilepsy is_a: MONDO:0017024 {source="Orphanet:77260"} ! secondary interstitial lung disease specific to childhood associated with a metabolic disease is_a: MONDO:0018150 {source="DC-OMIM:230900", source="DOID:0110958", source="MONDOLEX:0009266", source="Orphanet:77260", source="linkedlifedata"} ! Gaucher disease -is_a: MONDO:0018299 {source="Orphanet:77260"} ! sphingolipidosis with epilepsy is_a: MONDO:0019058 {source="Orphanet:77260"} ! neurometabolic disease +is_a: MONDO:0019255 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! sphingolipidosis is_a: MONDO:0020143 {source="Orphanet:77260"} ! cerebral lipidosis with dementia relationship: disease_has_basis_in_disruption_of GO:0004565 {source="PMID:21723623"} ! beta-galactosidase activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4177 {source="mim2gene_medgen"} ! GBA @@ -174561,11 +174574,12 @@ xref: UMLS:C1856492 {source="OMIM:231000", source="MONDO:notFoundInDiseaseSubset xref: UMLS:C1856493 {source="OMIM:231000", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002561 {source="DOID:0110959/inferred", source="Orphanet:77261/inferred", source="PMID:21723623", source="indirect"} ! lysosomal storage disease is_a: MONDO:0016341 {source="Orphanet:77261", source="Orphanet:77261/inferred"} ! lysosomal disease with restrictive cardiomyopathy +is_a: MONDO:0016397 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! lysosomal disease with epilepsy is_a: MONDO:0017024 {source="Orphanet:77261"} ! secondary interstitial lung disease specific to childhood associated with a metabolic disease is_a: MONDO:0018150 {source="DC-OMIM:231000", source="DOID:0110959", source="MONDOLEX:0009267", source="Orphanet:77261", source="linkedlifedata"} ! Gaucher disease -is_a: MONDO:0018299 {source="Orphanet:77261"} ! sphingolipidosis with epilepsy is_a: MONDO:0018377 {source="Orphanet:77261"} ! rare hereditary disease with avascular necrosis is_a: MONDO:0019058 {source="Orphanet:77261"} ! neurometabolic disease +is_a: MONDO:0019255 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! sphingolipidosis is_a: MONDO:0020143 {source="Orphanet:77261"} ! cerebral lipidosis with dementia relationship: disease_has_basis_in_disruption_of GO:0004565 {source="PMID:21723623"} ! beta-galactosidase activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4177 {source="mim2gene_medgen"} ! GBA @@ -174680,7 +174694,7 @@ xref: SCTID:733037000 {source="MONDO:equivalentTo"} xref: UMLS:C0265373 {source="MONDO:subClassOf", source="NCBI:mim2gene_medline", source="OMIM:231080"} xref: UMLS:C3887495 {source="Orphanet:2077", source="MONDO:equivalentTo"} is_a: MONDO:0016009 ! fetal trimethadione syndrome -is_a: MONDO:0018722 {source="Orphanet:2077"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="Orphanet:2077"} ! syndromic lymphedema property_value: confidence "0.0" xsd:double @@ -175244,7 +175258,7 @@ xref: UMLS:C0268146 {source="Orphanet:79259", source="NCBI:mim2gene_medline", so xref: UMLS:C0342749 {source="NCBI:mim2gene_medline", source="OMIM:232240", source="MONDO:equivalentTo"} xref: UMLS:C0342750 {source="OMIM:232240", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0002413 {source="MESH:C562594", source="MONDO:Redundant", source="MONDOLEX:0009288", source="NCIT:C122661", source="Orphanet:79259", source="linkedlifedata"} ! glycogen storage disease I -is_a: MONDO:0018032 {source="Orphanet:79259"} ! constitutional neutropenia with extra-hematopoietic manifestations +is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia relationship: disease_has_basis_in_disruption_of GO:0015152 ! glucose-6-phosphate transmembrane transporter activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4061 {source="mim2gene_medgen"} ! SLC37A4 property_value: confidence "3.571428571428573" xsd:double @@ -176099,7 +176113,7 @@ relationship: excluded_subClassOf MONDO:0015329 {source="Orphanet:2108", source= relationship: excluded_subClassOf MONDO:0019287 {source="Orphanet:2108", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome relationship: excluded_subClassOf MONDO:0019699 {source="Orphanet:2108"} ! slender bone dysplasia relationship: excluded_subClassOf MONDO:0020188 {source="Orphanet:2108"} ! obsolete congenital absence of the eyebrow/eyelashes -relationship: excluded_subClassOf MONDO:0020234 {source="Orphanet:2108"} ! craniofacial anomaly with cataract +relationship: excluded_subClassOf MONDO:0020234 {source="Orphanet:2108"} ! obsolete craniofacial anomaly with cataract relationship: excluded_subClassOf MONDO:0020277 {source="Orphanet:2108"} ! ectodermal malformation syndrome associated with ocular features relationship: excluded_subClassOf MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:2108"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -176409,7 +176423,7 @@ xref: MESH:C536478 {source="MONDO:equivalentTo"} xref: OMIM:235255 {source="MONDO:equivalentTo", source="Orphanet:1655", source="ORDO:1655/e"} xref: Orphanet:1655 {source="OMIM:235255", source="MONDO:equivalentTo"} xref: UMLS:C1856159 {source="OMIM:235255", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018722 {source="Orphanet:1655"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="Orphanet:1655"} ! syndromic lymphedema property_value: confidence "8.333333333333334" xsd:double @@ -178071,7 +178085,7 @@ xref: UMLS:C0795905 {source="OMIM:239850", source="NCBI:mim2gene_medline", sourc is_a: MONDO:0002254 {source="MONDO:cjm", source="indirect"} ! syndromic disease is_a: MONDO:0005516 {source="DOID:0060569", source="MESH:C535572"} ! osteochondrodysplasia is_a: MONDO:0015160 {source="Orphanet:1517", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome -is_a: MONDO:0019710 {source="Orphanet:1517"} ! dysostosis with predominant craniofacial involvement +is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1517"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/60 {source="mim2gene_medgen"} ! ABCC9 relationship: disease_has_feature HP:0000998 {source="Wikidata"} ! Hypertrichosis @@ -180249,10 +180263,10 @@ xref: SCTID:5710006 {source="DOID:10587"} xref: UMLS:C0023521 {source="DOID:10587", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:245200", source="NCIT:C61254", source="ORDO:487/e", source="Orphanet:487"} is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disease is_a: MONDO:0016133 {source="Orphanet:487"} ! rare hereditary metabolic disease with peripheral neuropathy -is_a: MONDO:0018299 {source="Orphanet:487"} ! sphingolipidosis with epilepsy +is_a: MONDO:0016397 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! lysosomal disease with epilepsy is_a: MONDO:0019046 {source="NCIT:C61254", source="Orphanet:487", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy is_a: MONDO:0019058 {source="Orphanet:487"} ! neurometabolic disease -is_a: MONDO:0019255 {source="DOID:10587", source="MESH:D007965", source="NCIT:C61254", source="Orphanet:487", source="PMID:21502308", source="indirect"} ! sphingolipidosis +is_a: MONDO:0019255 {source="DOID:10587", source="MESH:D007965", source="MONDO:0018299-obsoleted", source="NCIT:C61254", source="Orphanet:487", source="PMID:21502308", source="indirect"} ! sphingolipidosis is_a: MONDO:0020244 {source="Orphanet:487"} ! unclassified primitive or secondary maculopathy relationship: disease_has_basis_in_accumulation_of CHEBI:16874 {source="PMID:14572137"} ! psychosine relationship: disease_has_basis_in_disruption_of GO:0004336 {source="PMID:14572137"} ! galactosylceramidase activity @@ -180805,7 +180819,7 @@ xref: OMIM:246550 {source="MONDO:equivalentTo", source="ORDO:2390/e", source="Or xref: Orphanet:2390 {source="OMIM:246550", source="MONDO:equivalentTo"} xref: SCTID:763668009 {source="MONDO:equivalentTo"} xref: UMLS:C1855502 {source="OMIM:246550", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:2390/e", source="Orphanet:2390"} -is_a: MONDO:0018032 {source="Orphanet:2390"} ! constitutional neutropenia with extra-hematopoietic manifestations +is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3248/lichtenstein-syndrome xsd:anyURI {source="GARD:0003248"} @@ -181078,7 +181092,7 @@ xref: SCTID:721083007 {source="MONDO:equivalentTo"} xref: UMLS:C1855477 {source="Orphanet:1563", source="ORDO:1563/e", source="OMIM:247410", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:1563", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015895 {source="Orphanet:1563"} ! syndrome with hypoparathyroidism -is_a: MONDO:0018722 {source="Orphanet:1563"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019287 {source="Orphanet:1563", source="linkedlifedata"} ! ectodermal dysplasia syndrome is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:1563"} ! syndromic lymphedema is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:1563"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -181309,7 +181323,7 @@ xref: UMLS:C1855466 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis xref: UMLS:C2931121 {source="DOID:0060881", source="MONDO:notFoundInDiseaseSubset", source="ORDO:2196/e", source="GARD:0003451", source="Orphanet:2196"} is_a: MONDO:0017624 {source="MONDOLEX:0009548", source="Orphanet:2196"} ! familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis is_a: MONDO:0018100 {source="DOID:0060881", source="MONDO:Redundant", source="OMIM:248190", source="Orphanet:2196/inferred"} ! familial primary hypomagnesemia -is_a: MONDO:0020243 {source="Orphanet:2196"} ! colobomatous and areolar dystrophy +is_a: MONDO:0020242 {source="MONDO:0020243-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic macular dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2040 {source="mim2gene_medgen"} ! CLDN19 relationship: excluded_subClassOf MONDO:0010645 {source="MESH:C536148"} ! oculocerebrorenal syndrome property_value: confidence "22.333333333333336" xsd:double @@ -183195,8 +183209,8 @@ xref: UMLS:C3278481 {source="OMIM:251270", source="MONDO:notFoundInDiseaseSubset xref: UMLS:C3502492 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2518"} is_a: MONDO:0000181 {source="DC-OMIM:251270", source="MONDO:Redundant", source="MONDOLEX:0009624", source="OMIM:251270"} ! microcephaly and chorioretinopathy is_a: MONDO:0002254 {source="DOID:0080105", source="MONDOLEX:0009624"} ! syndromic disease +is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease is_a: MONDO:0019118 {source="Orphanet:2518"} ! inherited retinal dystrophy -is_a: MONDO:0020262 {source="Orphanet:2518"} ! nervous system anomaly with eye involvement intersection_of: MONDO:0000181 ! microcephaly and chorioretinopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18127 ! TUBGCP6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18127 {source="mim2gene_medgen"} ! TUBGCP6 @@ -185187,7 +185201,8 @@ xref: UMLS:C0270853 {source="ORDO:307/e", source="MONDO:equivalentTo", source="O xref: UMLS:C1850778 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:254770"} is_a: MONDO:0000415 {source="DOID:4890"} ! adolescence-adult electroclinical syndrome is_a: MONDO:0005027 {source="DOID:4890/inferred", source="MESH:D020190/inferred", source="MONDO:Redundant", source="NCIT:C84796", source="indirect", source="linkedlifedata", source="linkedlifedata/inferred"} ! epilepsy -is_a: MONDO:0017654 {source="Orphanet:307"} ! non progressive epilepsy and/or ataxia with myoclonus as a major feature +is_a: MONDO:0017652 {source="MONDO:0017654-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare disease with myoclonus as a major feature +is_a: MONDO:0017665 {source="MONDO:0017654-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare genetic disease with myoclonus as a major feature is_a: MONDO:0017704 {source="Orphanet:307"} ! familial partial epilepsy is_a: MONDO:0100030 {source="http://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome relationship: disease_has_feature HP:0001336 ! Myoclonus @@ -185226,8 +185241,10 @@ xref: Orphanet:501 {source="OMIM:254780", source="MONDO:equivalentTo"} xref: SCTID:230425004 {source="MONDO:equivalentTo", source="DOID:3534"} xref: UMLS:C0751783 {source="Orphanet:501", source="OMIM:254780", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:3534", source="NCIT:C84804", source="ORDO:501/e"} xref: UMLS:C1850764 {source="OMIM:254780", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0017655 {source="Orphanet:501"} ! progressive epilepsy and/or ataxia with myoclonus as a major feature +is_a: MONDO:0017652 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare disease with myoclonus as a major feature +is_a: MONDO:0017665 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare genetic disease with myoclonus as a major feature is_a: MONDO:0020074 {source="DC-OMIM:254780", source="DOID:3534", source="MESH:D020192", source="OMIM:254780", source="Orphanet:501", source="linkedlifedata"} ! progressive myoclonus epilepsy +is_a: MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! variable age onset epilepsy property_value: confidence "3.1764705882352944" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8214/lafora-disease xsd:anyURI {source="GARD:0008214"} @@ -185269,8 +185286,10 @@ xref: SCTID:230423006 {source="DOID:3535", source="MONDO:equivalentTo"} xref: SCTID:230424000 {source="DOID:3535"} xref: SCTID:89480000 {source="DOID:3535"} xref: UMLS:C0751785 {source="NCBI:mim2gene_medline", source="ORDO:308/e", source="DOID:3535", source="MONDO:equivalentTo", source="Orphanet:308", source="OMIM:254800"} -is_a: MONDO:0017655 {source="Orphanet:308"} ! progressive epilepsy and/or ataxia with myoclonus as a major feature +is_a: MONDO:0017652 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare disease with myoclonus as a major feature +is_a: MONDO:0017665 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare genetic disease with myoclonus as a major feature is_a: MONDO:0020074 {source="DC-OMIM:254800", source="DOID:3535", source="MESH:D020194", source="OMIM:254800", source="Orphanet:308", source="linkedlifedata"} ! progressive myoclonus epilepsy +is_a: MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! variable age onset epilepsy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2482 {source="mim2gene_medgen"} ! CSTB property_value: confidence "4.5" xsd:double @@ -185460,7 +185479,7 @@ xref: OMIM:255125 {source="Orphanet:43115", source="MONDO:equivalentTo", source= xref: Orphanet:43115 {source="MONDO:equivalentTo", source="OMIM:255125"} xref: SCTID:699268002 {source="MONDO:equivalentTo"} xref: UMLS:C1850718 {source="Orphanet:43115", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:255125"} -is_a: MONDO:0016804 {source="Orphanet:43115"} ! exercise intolerance with lactic acidosis +is_a: MONDO:0017718 {source="MONDO:0016804-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes is_a: MONDO:0020123 {source="Orphanet:43115"} ! metabolic myopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29882 {source="mim2gene_medgen"} ! ISCU property_value: confidence "5.0" xsd:double @@ -186168,8 +186187,8 @@ xref: Orphanet:839 {source="MONDO:equivalentTo", source="OMIM:256300"} xref: SCTID:197601003 {source="MONDO:equivalentTo"} xref: UMLS:C0403399 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:256300", source="ORDO:839/e", source="NCIT:C122795", source="Orphanet:839"} is_a: MONDO:0002350 {source="MONDOLEX:0009732", source="OMIM:256300", source="linkedlifedata"} ! familial nephrotic syndrome -is_a: MONDO:0005377 {source="DC-OMIM:256300", source="MONDO:0009732/inferred", source="MONDO:Redundant", source="MONDOLEX:0009732/inferred", source="NCIT:C122795", source="OMIM:256300", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! nephrotic syndrome -is_a: MONDO:0019987 {source="Orphanet:839"} ! congenital and infantile nephrotic syndrome +is_a: MONDO:0005377 {source="DC-OMIM:256300", source="MONDO:0009732/inferred", source="MONDO:0019987-obsoleted", source="MONDO:Redundant", source="MONDOLEX:0009732/inferred", source="NCIT:C122795", source="OMIM:256300", source="indirect", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! nephrotic syndrome +is_a: MONDO:0015163 {source="MONDO:0019987-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary glomerular disease intersection_of: MONDO:0005377 ! nephrotic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7908 ! NPHS1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7908 {source="mim2gene_medgen"} ! NPHS1 @@ -186275,7 +186294,7 @@ is_a: MONDO:0006025 {source="DOID:0050474", source="indirect"} ! autosomal reces is_a: MONDO:0017271 {source="Orphanet:634"} ! autosomal ichthyosis syndrome with prominent hair abnormalities is_a: MONDO:0018037 {source="Orphanet:634"} ! hyper-IgE syndrome is_a: MONDO:0019269 {source="MESH:D056770/inferred", source="MONDO:Redundant", source="NCIT:C84922", source="Orphanet:634/inferred"} ! ichthyosis (disease) -is_a: MONDO:0020268 {source="MONDO:Redundant", source="Orphanet:634"} ! ichthyosis associated with ocular features +is_a: MONDO:0020267 {source="MONDO:0020268-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic keratinization disorder associated with ocular features relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15464 {source="mim2gene_medgen"} ! SPINK5 relationship: disease_has_feature HP:0000499 {source="Orphanet:634"} ! Abnormal eyelash morphology relationship: disease_has_feature HP:0000534 {source="Orphanet:634"} ! Abnormal eyebrow morphology @@ -186827,8 +186846,9 @@ xref: SCTID:52165006 {source="MONDO:equivalentTo"} xref: UMLS:C0268242 {source="NCIT:C126561", source="OMIM:257200", source="NCBI:mim2gene_medline", source="ORDO:77292/e", source="MONDO:equivalentTo", source="Orphanet:77292"} xref: UMLS:C2675646 {source="OMIM:257200", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0001982 {source="DC-OMIM:257200", source="DOID:0070111", source="MESH:D052536", source="NCIT:C126561", source="Orphanet:77292"} ! Niemann-Pick disease -is_a: MONDO:0018299 {source="Orphanet:77292"} ! sphingolipidosis with epilepsy +is_a: MONDO:0016397 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! lysosomal disease with epilepsy is_a: MONDO:0019058 {source="Orphanet:77292"} ! neurometabolic disease +is_a: MONDO:0019255 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! sphingolipidosis is_a: MONDO:0020282 {source="Orphanet:77292"} ! metabolic disease with macular cherry-red spot relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11120 {source="mim2gene_medgen"} ! SMPD1 relationship: has_modifier HP:0000007 {source="HPOA", source="OMIM:257200", source="Orphanet:77292"} ! Autosomal recessive inheritance @@ -186935,8 +186955,8 @@ xref: SCTID:717977003 {source="MONDO:equivalentTo"} xref: UMLS:C0796089 {source="ORDO:89844/e", source="Orphanet:89844", source="NCBI:mim2gene_medline", source="OMIM:257320", source="MONDO:equivalentTo", source="DOID:0060902"} is_a: MONDO:0015204 {source="MONDOLEX:0009760", source="Orphanet:89844"} ! microlissencephaly is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:89844", source="Orphanet:89844/inferred"} ! genetic vascular anomaly -is_a: MONDO:0018722 {source="Orphanet:89844"} ! primary lymphedema with associated anomalies is_a: MONDO:0018838 {source="DOID:0060902", source="MONDO:Redundant", source="OMIM:257320", source="Orphanet:89844/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lissencephaly spectrum disorders +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:89844"} ! syndromic lymphedema relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9957 {source="mim2gene_medgen"} ! RELN property_value: confidence "33.999999999999964" xsd:double @@ -187858,7 +187878,7 @@ xref: MESH:C564923 {source="MONDO:equivalentTo"} xref: OMIM:259250 {source="MONDO:equivalentTo", source="ORDO:2769/e", source="Orphanet:2769"} xref: Orphanet:2769 {source="MONDO:equivalentTo", source="OMIM:259250"} xref: UMLS:C1850186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2769", source="OMIM:259250"} -is_a: MONDO:0019710 {source="Orphanet:2769"} ! dysostosis with predominant craniofacial involvement +is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: confidence "32.125" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4136/osteodysplasia-familial-anderson-type xsd:anyURI {source="GARD:0004136"} @@ -191158,7 +191178,7 @@ is_a: MONDO:0006840 {source="MESH:C537727", source="NCIT:C99034"} ! lymphangiect is_a: MONDO:0015221 {source="Orphanet:2414"} ! non-syndromic respiratory or mediastinal malformation is_a: MONDO:0015930 {source="Orphanet:2414"} ! respiratory malformation is_a: MONDO:0017017 {source="Orphanet:2414"} ! primary interstitial lung disease specific to childhood due to alveolar vascular disorder -is_a: MONDO:0018722 {source="Orphanet:2414"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema relationship: has_modifier MONDO:0021136 {source="MONDO:0015510"} ! rare property_value: confidence "3.666666666666667" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia xsd:anyURI {source="GARD:0009900"} @@ -191421,7 +191441,7 @@ xref: SCTID:734434007 {source="MONDO:equivalentTo"} xref: UMLS:C1291560 {source="MONDO:relatedTo", source="Orphanet:3006", source="ORDO:3006/e"} xref: UMLS:C1849508 {source="Orphanet:3006", source="NCBI:mim2gene_medline", source="ORDO:3006/e", source="MONDO:equivalentTo", source="OMIM:266100"} xref: UMLS:CN203406 {source="MONDO:equivalentTo"} -is_a: MONDO:0016404 {source="Orphanet:3006"} ! metabolic neurotransmission anomaly with epilepsy +is_a: MONDO:0015656 {source="MONDO:0016404-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! metabolic disease with epilepsy is_a: MONDO:0019058 {source="Orphanet:3006"} ! neurometabolic disease is_a: MONDO:0019237 {source="Orphanet:3006"} ! inborn disorder of pyridoxine metabolism is_a: MONDO:0100033 {comment="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy @@ -191763,7 +191783,6 @@ is_a: MONDO:0019046 {source="Orphanet:773", source="https://rarediseases.org/rar is_a: MONDO:0019058 {source="Orphanet:773"} ! neurometabolic disease is_a: MONDO:0020044 {source="Orphanet:773"} ! autosomal recessive metabolic cerebellar ataxia is_a: MONDO:0020228 {source="Orphanet:773"} ! cataract associated with a metabolic disease -is_a: MONDO:0020269 {source="Orphanet:773"} ! syndromic ichthyosis associated with ocular features is_a: MONDO:0020281 {source="Orphanet:773"} ! metabolic disease with pigmentary retinitis disjoint_from: MONDO:0019174 {source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24", source="https://omim.org/entry/266500"} ! infantile Refsum disease property_value: confidence "0.8321428571428573" xsd:double @@ -193624,7 +193643,6 @@ is_a: MONDO:0018118 {source="Orphanet:816"} ! disorder of phospholipids, sphingo is_a: MONDO:0019046 {source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy is_a: MONDO:0019058 {source="Orphanet:816"} ! neurometabolic disease is_a: MONDO:0020244 {source="Orphanet:816"} ! unclassified primitive or secondary maculopathy -is_a: MONDO:0020269 {source="Orphanet:816"} ! syndromic ichthyosis associated with ocular features is_a: MONDO:0020280 {source="Orphanet:816"} ! metabolic disease with cataract is_a: MONDO:0020281 {source="Orphanet:816"} ! metabolic disease with pigmentary retinitis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/403 {source="mim2gene_medgen"} ! ALDH3A2 @@ -193720,7 +193738,7 @@ is_a: MONDO:0019240 {source="Orphanet:818", source="indirect"} ! sterol biosynth is_a: MONDO:0019721 {source="Orphanet:818"} ! syndromic renal or urinary tract malformation is_a: MONDO:0020165 {source="Orphanet:818"} ! syndromic epicanthus is_a: MONDO:0020169 {source="Orphanet:818"} ! rare disorder with ptosis -is_a: MONDO:0020234 {source="Orphanet:818"} ! craniofacial anomaly with cataract +is_a: MONDO:0020227 {source="MONDO:0020234-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! systemic disease with cataract is_a: MONDO:0020280 {source="Orphanet:818"} ! metabolic disease with cataract relationship: disease_has_basis_in_disruption_of GO:0006695 ! cholesterol biosynthetic process relationship: disease_has_basis_in_disruption_of GO:0047598 ! 7-dehydrocholesterol reductase activity @@ -194469,7 +194487,7 @@ is_a: MONDO:0000508 {source="Orphanet:94095"} ! syndromic intellectual disabilit is_a: MONDO:0015246 {source="Orphanet:94095"} ! syndromic anorectal malformation is_a: MONDO:0015620 {source="Orphanet:94095"} ! syndromic urogenital tract malformation is_a: MONDO:0015846 {source="Orphanet:94095"} ! syndromic uterovaginal malformation -is_a: MONDO:0019711 {source="Orphanet:94095"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: confidence "9.0" xsd:double @@ -194764,7 +194782,7 @@ xref: Orphanet:22 {source="MONDO:equivalentTo", source="OMIM:271980"} xref: SCTID:49748000 {source="MONDO:equivalentTo"} xref: UMLS:C0268631 {source="Orphanet:22", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271980"} is_a: MONDO:0000698 {source="DOID:0060175"} ! gamma-amino butyric acid metabolism disorder -is_a: MONDO:0016404 {source="Orphanet:22"} ! metabolic neurotransmission anomaly with epilepsy +is_a: MONDO:0015656 {source="MONDO:0016404-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! metabolic disease with epilepsy is_a: MONDO:0019058 {source="Orphanet:22"} ! neurometabolic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/408 {source="mim2gene_medgen"} ! ALDH5A1 property_value: confidence "4.277777777777778" xsd:double @@ -194885,10 +194903,10 @@ xref: UMLS:C0268263 {source="DOID:0050441", source="NCBI:mim2gene_medline", sour xref: UMLS:C1720864 {source="DOID:0050441", source="MONDO:notFoundInDiseaseSubset", source="ORDO:585/e", source="OMIM:272200", source="Orphanet:585"} is_a: MONDO:0002561 {source="DOID:0050441/inferred", source="MESH:D052517/inferred", source="MONDO:Redundant", source="NCIT:C84908", source="Orphanet:585/inferred", source="linkedlifedata"} ! lysosomal storage disease is_a: MONDO:0015327 {source="Orphanet:585"} ! developmental anomaly of metabolic origin +is_a: MONDO:0016397 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! lysosomal disease with epilepsy is_a: MONDO:0017273 {source="Orphanet:585"} ! autosomal ichthyosis syndrome with fatal disease course -is_a: MONDO:0018299 {source="Orphanet:585"} ! sphingolipidosis with epilepsy is_a: MONDO:0019058 {source="Orphanet:585"} ! neurometabolic disease -is_a: MONDO:0019255 {source="DOID:0050441", source="MESH:D052517/inferred", source="Orphanet:585", source="indirect", source="linkedlifedata"} ! sphingolipidosis +is_a: MONDO:0019255 {source="DOID:0050441", source="MESH:D052517/inferred", source="MONDO:0018299-obsoleted", source="Orphanet:585", source="indirect", source="linkedlifedata"} ! sphingolipidosis is_a: MONDO:0019706 {source="Orphanet:585"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20376 {source="mim2gene_medgen"} ! SUMF1 property_value: confidence "4.833333333333332" xsd:double @@ -195196,8 +195214,8 @@ xref: MESH:C536950 {source="MONDO:equivalentTo", source="Orphanet:3291", source= xref: OMIM:272950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="ORDO:3291/e"} xref: Orphanet:3291 {source="MONDO:equivalentTo", source="OMIM:272950"} xref: UMLS:C1848912 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:3291", source="ORDO:3291/e", source="OMIM:272950"} +is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0019287 {source="Orphanet:3291"} ! ectodermal dysplasia syndrome -is_a: MONDO:0019710 {source="Orphanet:3291"} ! dysostosis with predominant craniofacial involvement property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5125/teebi-shaltout-syndrome xsd:anyURI {source="GARD:0005125"} @@ -196431,7 +196449,6 @@ xref: SCTID:19604005 {source="MONDO:equivalentTo"} xref: UMLS:C0268238 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:275630", source="Orphanet:98907"} is_a: MONDO:0015611 {source="MONDOLEX:0010155", source="Orphanet:98907"} ! neutral lipid storage disease is_a: MONDO:0017274 {source="Orphanet:98907"} ! autosomal ichthyosis syndrome with other associated signs -is_a: MONDO:0020269 {source="Orphanet:98907"} ! syndromic ichthyosis associated with ocular features relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21396 {source="mim2gene_medgen"} ! ABHD5 property_value: confidence "2.6666666666666665" xsd:double @@ -196568,7 +196585,6 @@ xref: SCTID:4887000 {source="MONDO:equivalentTo"} xref: UMLS:C0268487 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:28378", source="OMIM:276600", source="NCIT:C129032"} is_a: MONDO:0004741 {source="DC-OMIM:276600", source="DOID:0050725", source="NCIT:C129032", source="OMIM:276600"} ! tyrosinemia is_a: MONDO:0020097 {source="Orphanet:28378"} ! autosomal recessive disease with focal palmoplantar keratoderma as a major feature -is_a: MONDO:0020269 {source="Orphanet:28378"} ! syndromic ichthyosis associated with ocular features is_a: MONDO:0020279 {source="Orphanet:28378"} ! metabolic disease with corneal opacity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11573 {source="mim2gene_medgen"} ! TAT relationship: disease_has_feature HP:0000491 ! Keratitis @@ -197118,7 +197134,7 @@ xref: UMLS:CN032975 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo" is_a: MONDO:0000359 {source="DC-OMIM:277300", source="MONDO:Redundant", source="MONDOLEX:0010180", source="OMIM:277300"} ! spondylocostal dysostosis is_a: MONDO:0017747 {source="Orphanet:2311"} ! disorder of fucoglycosan synthesis is_a: MONDO:0018292 {source="Orphanet:2311"} ! congenital disorder of glycosylation-related bone disorder -is_a: MONDO:0019711 {source="Orphanet:2311"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin intersection_of: MONDO:0000359 ! spondylocostal dysostosis intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance property_value: confidence "0.05300000000000038" xsd:double @@ -198791,7 +198807,7 @@ xref: OMIM:300076 {source="MONDO:equivalentTo", source="Orphanet:2571", source=" xref: Orphanet:2571 {source="OMIM:300076", source="MONDO:equivalentTo"} xref: SCTID:719827008 {source="MONDO:equivalentTo"} xref: UMLS:C1848144 {source="OMIM:300076", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2571", source="ORDO:2571/e"} -is_a: MONDO:0018038 {source="Orphanet:2571"} ! immunodeficiency with isotype or light chain deficiencies with normal number of B-cells +is_a: MONDO:0015132 {source="MONDO:0018038-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! immunodeficiency predominantly affecting antibody production relationship: has_modifier HP:0001417 ! X-linked inheritance [Term] @@ -199236,8 +199252,9 @@ xref: UMLS:C2749175 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:300200 is_a: MONDO:0000004 {source="DC-OMIM:300200", source="DOID:0080156", source="MONDO:Redundant", source="linkedlifedata"} ! adrenocortical insufficiency is_a: MONDO:0005495 {source="MONDO:Redundant", source="Orphanet:95702", source="Orphanet:95702/inferred"} ! adrenal gland disease is_a: MONDO:0015129 {source="Orphanet:95702", source="Orphanet:95702/inferred"} ! chronic primary adrenal insufficiency -is_a: MONDO:0015891 {source="Orphanet:95702"} ! hypogonadotropic hypogonadism associated with other endocrinopathies +is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0016241 {source="MONDOLEX:0010264", source="NCIT:C123725"} ! alternating hemiplegia of childhood +is_a: MONDO:0018398 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! female infertility due to a congenital hypogonadotropic hypogonadism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7960 {source="mim2gene_medgen"} ! NR0B1 relationship: has_modifier HP:0001417 ! X-linked inheritance relationship: has_modifier MONDO:0021136 {source="MONDO:0015971"} ! rare @@ -199369,7 +199386,7 @@ xref: SCTID:360455002 {source="DOID:7765", source="MONDO:equivalentTo"} xref: UMLS:C0154832 {source="ORDO:190/e", source="DOID:7765", source="NCBI:mim2gene_medline", source="Orphanet:190", source="MONDO:equivalentTo", source="OMIM:300216"} is_a: MONDO:0004348 {source="DOID:7765", source="linkedlifedata"} ! retinal telangiectasia is_a: MONDO:0015953 {source="Orphanet:190"} ! genetic central nervous system and retinal vascular disease -is_a: MONDO:0020221 {source="Orphanet:190"} ! secondary glaucoma due to a proliferation and differentiation anomaly +is_a: MONDO:0020216 {source="MONDO:0020221-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! secondary dysgenetic glaucoma is_a: MONDO:0020247 {source="Orphanet:190"} ! congenital vitreoretinal dysplasia is_a: MONDO:0020676 {source="Orphanet:190"} ! disease of central nervous system or retinal vasculature relationship: has_modifier MONDO:0021136 {source="MONDO:0019110"} ! rare @@ -199982,7 +199999,7 @@ xref: UMLS:C1845919 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:69088", source="Orphanet:69088/inferred"} ! genetic vascular anomaly is_a: MONDO:0017198 {source="MONDOLEX:0010295", source="Orphanet:69088", source="linkedlifedata"} ! osteopetrosis (disease) is_a: MONDO:0018035 {source="Orphanet:69088"} ! syndrome with combined immunodeficiency -is_a: MONDO:0018722 {source="Orphanet:69088"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019287 {source="MESH:C564538", source="MONDOLEX:0010295", source="Orphanet:69088", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:69088"} ! syndromic lymphedema relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5961 {source="mim2gene_medgen"} ! IKBKG @@ -205077,8 +205094,8 @@ is_a: MONDO:0015327 {source="Orphanet:324"} ! developmental anomaly of metabolic is_a: MONDO:0016133 {source="Orphanet:324"} ! rare hereditary metabolic disease with peripheral neuropathy is_a: MONDO:0016326 {source="Orphanet:324"} ! lysosomal disease with hypertrophic cardiomyopathy is_a: MONDO:0016341 {source="Orphanet:324"} ! lysosomal disease with restrictive cardiomyopathy -is_a: MONDO:0018299 {source="Orphanet:324"} ! sphingolipidosis with epilepsy -is_a: MONDO:0019255 {source="DOID:14499", source="MESH:D000795", source="NCIT:C84701", source="Orphanet:324", source="indirect"} ! sphingolipidosis +is_a: MONDO:0016397 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! lysosomal disease with epilepsy +is_a: MONDO:0019255 {source="DOID:14499", source="MESH:D000795", source="MONDO:0018299-obsoleted", source="NCIT:C84701", source="Orphanet:324", source="indirect"} ! sphingolipidosis is_a: MONDO:0019293 {source="Orphanet:324"} ! skin vascular disease is_a: MONDO:0019520 {source="Orphanet:324"} ! syndromic lymphedema is_a: MONDO:0019743 {source="Orphanet:324"} ! nephropathy secondary to a storage or other metabolic disease @@ -205518,9 +205535,9 @@ xref: SCTID:297231002 {source="DOID:0050476", source="MONDO:equivalentTo"} xref: UMLS:C0574083 {source="DOID:0050476", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:111/e", source="Orphanet:111", source="NCIT:C84585", source="OMIM:302060"} is_a: MONDO:0002254 {source="NCIT:C84585"} ! syndromic disease is_a: MONDO:0009637 {source="Orphanet:111"} ! inborn mitochondrial myopathy +is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0016335 {source="Orphanet:111"} ! mitochondrial disease with dilated cardiomyopathy is_a: MONDO:0017359 {source="DC-OMIM:302060", source="NCIT:C84585", source="OMIM:302060", source="Orphanet:111", source="linkedlifedata"} ! 3-methylglutaconic aciduria -is_a: MONDO:0018032 {source="Orphanet:111"} ! constitutional neutropenia with extra-hematopoietic manifestations is_a: MONDO:0018120 {source="Orphanet:111"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11577 {source="mim2gene_medgen"} ! TAZ property_value: confidence "5.388888888888889" xsd:double @@ -206201,11 +206218,11 @@ xref: Orphanet:50 {source="MONDO:equivalentTo", source="OMIM:304050", source="DO xref: SCTID:80651009 {source="MONDO:equivalentTo", source="DOID:8461"} xref: UMLS:C0175713 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C35256", source="OMIM:304050", source="DOID:8461", source="Orphanet:50", source="ORDO:50/e"} is_a: MONDO:0002254 {source="DOID:8461", source="MONDO:Redundant", source="NCIT:C35256", source="indirect"} ! syndromic disease +is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease is_a: MONDO:0015655 {source="Orphanet:50"} ! cerebral malformation with epilepsy is_a: MONDO:0015945 {source="Orphanet:50"} ! polymalformative genetic syndrome with increased risk of developing cancer is_a: MONDO:0016055 {source="MONDO:Redundant", source="Orphanet:50", source="indirect"} ! syndrome with corpus callosum agenesis /dysgenesis as a major feature is_a: MONDO:0017122 {source="Orphanet:50"} ! genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -is_a: MONDO:0020262 {source="Orphanet:50"} ! nervous system anomaly with eye involvement relationship: disease_has_feature HP:0007858 ! Chorioretinal lacunae relationship: excluded_subClassOf MONDO:0015218 {source="Orphanet:50"} ! syndromic developmental defect of the eye relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:50"} ! X-linked syndromic intellectual disability @@ -210638,7 +210655,8 @@ xref: MESH:C536936 {source="ORDO:1122/e", source="Orphanet:1122", source="MONDO: xref: OMIM:314360 {source="ORDO:1122/e", source="Orphanet:1122", source="MONDO:equivalentTo"} xref: Orphanet:1122 {source="MONDO:equivalentTo", source="OMIM:314360"} xref: UMLS:C1839123 {source="ORDO:1122/e", source="Orphanet:1122", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:314360"} -is_a: MONDO:0017433 {source="Orphanet:1122"} ! dysostosis with combined reduction defects of upper and lower limbs +is_a: MONDO:0015226 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with limb malformations as a major feature +is_a: MONDO:0018455 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin with limb anomaly as a major feature property_value: confidence "7.125" xsd:double [Term] @@ -210809,7 +210827,7 @@ xref: Orphanet:3456 {source="MONDO:equivalentTo", source="OMIM:314600"} xref: SCTID:79665007 {source="MONDO:equivalentTo"} xref: UMLS:C0265239 {source="ORDO:3456/e", source="NCBI:mim2gene_medline", source="Orphanet:3456", source="MONDO:equivalentTo", source="OMIM:314600"} is_a: MONDO:0015334 {source="Orphanet:3456"} ! branchial arch or oral-acral syndrome -is_a: MONDO:0019711 {source="Orphanet:3456"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5569/wildervanck-syndrome xsd:anyURI {source="GARD:0005569"} @@ -211642,10 +211660,10 @@ xref: SCTID:237985009 {source="MONDO:equivalentTo"} xref: UMLS:C0342773 {source="Orphanet:699", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="ORDO:699/e"} xref: UMLS:C0342784 {source="OMIM:557000", source="Orphanet:699", source="MONDO:equivalentTo", source="NCIT:C115326"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C115326", source="indirect"} ! syndromic disease +is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0015188 {source="Orphanet:699"} ! metabolic disease with intestinal involvement is_a: MONDO:0015895 {source="Orphanet:699"} ! syndrome with hypoparathyroidism is_a: MONDO:0016792 {source="Orphanet:699"} ! mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA -is_a: MONDO:0018032 {source="Orphanet:699"} ! constitutional neutropenia with extra-hematopoietic manifestations is_a: MONDO:0020099 {source="Orphanet:699"} ! inherited sideroblastic anemia relationship: disease_has_feature HP:0001924 ! Sideroblastic anemia property_value: confidence "0.20000000000000018" xsd:double @@ -214293,7 +214311,8 @@ xref: Orphanet:93976 {source="OMIM:600674", source="MONDO:superClassOf", source= xref: SCTID:35045004 {source="MONDO:equivalentTo"} xref: UMLS:C0152423 {source="Orphanet:83463", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C1833486 {source="NCBI:mim2gene_medline", source="OMIM:600674", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0015502 {source="Orphanet:83463"} ! pinnae and external auditory canal anomaly +is_a: MONDO:0018562 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic otorhinolaryngological malformation +is_a: MONDO:0019936 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare otorhinolaryngological malformation property_value: confidence "0.0038461538461538325" xsd:double [Term] @@ -215015,12 +215034,14 @@ is_a: MONDO:0003847 ! Mendelian disease [Term] id: MONDO:0010958 -name: cardiac arrhythmia, ankyrin-b-related -synonym: "ankyrin-B syndrome" RELATED [OMIM:600919] +name: cardiac arrhythmia, ankyrin-B-related +comment: Editor note: we follow OMIM in making LQT4 and ANK2-related cardiac arrhythmia to be equivalent +synonym: "ankyrin-B syndrome" EXACT [OMIM:600919] synonym: "cardiac arrhythmia, ankyrin-b-related" EXACT [OMIM:600919] -synonym: "long QT syndrome 4" RELATED [OMIM:600919] -synonym: "LQT4" RELATED ABBREVIATION [GARD:0010432] +synonym: "long QT syndrome 4" EXACT [OMIM:600919] +synonym: "LQT4" EXACT ABBREVIATION [GARD:0010432, OMIM:600919] xref: DOID:0111700 {source="MONDO:equivalentTo"} +xref: DOID:0111701 {source="MONDO:equivalentTo"} xref: GARD:0010432 {source="MONDO:equivalentTo", source="OMIM-shared"} xref: OMIM:600919 {source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="MONDO:subClassOf", source="OMIM:600919", source="MONDO:directSiblingOf"} @@ -215088,8 +215109,9 @@ xref: Orphanet:71528 {source="MONDO:equivalentTo", source="OMIM:600955"} xref: SCTID:722053001 {source="MONDO:equivalentTo"} xref: UMLS:C1833053 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:600955"} xref: UMLS:C4302878 {source="MONDO:equivalentTo"} +is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0015825 {source="Orphanet:71528"} ! obesity due to congenital leptin resistance -is_a: MONDO:0015891 {source="Orphanet:71528"} ! hypogonadotropic hypogonadism associated with other endocrinopathies +is_a: MONDO:0018398 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! female infertility due to a congenital hypogonadotropic hypogonadism intersection_of: MONDO:0020075 ! genetic non-syndromic obesity intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8743 ! PCSK1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8743 {source="mim2gene_medgen"} ! PCSK1 @@ -219771,7 +219793,7 @@ xref: Orphanet:86915 {source="MONDO:equivalentTo", source="OMIM:601927"} xref: SCTID:721978002 {source="MONDO:equivalentTo"} xref: UMLS:C2677167 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86915", source="OMIM:601927"} xref: UMLS:C2930926 {source="MONDO:notFoundInDiseaseSubset", source="GARD:0000284"} -is_a: MONDO:0018722 {source="Orphanet:86915"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019297 {source="MESH:C535539", source="MESH:C567398", source="MONDO:Redundant", source="Orphanet:86915/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymphedema is_a: MONDO:0019520 {source="Orphanet:86915"} ! syndromic lymphedema property_value: confidence "9.0" xsd:double @@ -221029,9 +221051,10 @@ xref: SCTID:417081007 {source="MONDO:equivalentTo"} xref: UMLS:C1865361 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:397623", source="OMIM:602471"} is_a: MONDO:0015161 {source="Orphanet:397623", source="indirect"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015329 {source="Orphanet:397623"} ! malformation syndrome with short stature -is_a: MONDO:0015502 {source="Orphanet:397623"} ! pinnae and external auditory canal anomaly +is_a: MONDO:0018562 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic otorhinolaryngological malformation is_a: MONDO:0019589 {source="Orphanet:397623"} ! syndromic genetic deafness is_a: MONDO:0019697 {source="Orphanet:397623"} ! mesomelic and rhizo-mesomelic dysplasia +is_a: MONDO:0019936 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare otorhinolaryngological malformation is_a: MONDO:0043008 {source="MONDO:Redundant", source="Orphanet:397623"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4612 {source="mim2gene_medgen"} ! GSC property_value: confidence "9.0" xsd:double @@ -221205,7 +221228,7 @@ xref: OMIM:602484 {source="ORDO:2840/e", source="Orphanet:2840", source="MONDO:e xref: Orphanet:2840 {source="MONDO:equivalentTo", source="OMIM:602484"} xref: UMLS:C1865294 {source="ORDO:2840/e", source="NCBI:mim2gene_medline", source="Orphanet:2840", source="MONDO:equivalentTo", source="OMIM:602484"} xref: UMLS:C2930869 {source="ORDO:2840/e", source="Orphanet:2840", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0019711 {source="Orphanet:2840"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: confidence "8.6" xsd:double [Term] @@ -221583,7 +221606,7 @@ xref: Orphanet:357158 {source="OMIM:602562", source="MONDO:equivalentTo"} xref: UMLS:C1865181 {source="Orphanet:357158", source="OMIM:602562", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015334 {source="Orphanet:357158"} ! branchial arch or oral-acral syndrome is_a: MONDO:0015483 {source="Orphanet:357158"} ! mandibulofacial dysostosis -is_a: MONDO:0019710 {source="Orphanet:357158", source="Orphanet:357158/inferred"} ! dysostosis with predominant craniofacial involvement +is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: confidence "3.533333333333334" xsd:double [Term] @@ -221638,7 +221661,7 @@ is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:79319", source=" is_a: MONDO:0017740 {source="Orphanet:79319"} ! disorder of protein N-glycosylation is_a: MONDO:0018288 {source="Orphanet:79319"} ! congenital disorder of glycosylation with hepatic involvement is_a: MONDO:0018291 {source="Orphanet:79319"} ! congenital disorder of glycosylation with intestinal involvement -is_a: MONDO:0018722 {source="Orphanet:79319"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="Orphanet:79319"} ! syndromic lymphedema relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7216 {source="mim2gene_medgen"} ! MPI property_value: confidence "12.055555555555557" xsd:double @@ -222304,7 +222327,7 @@ xref: Orphanet:85199 {source="OMIM:603116", source="MONDO:equivalentTo"} xref: SCTID:720812002 {source="MONDO:equivalentTo"} xref: UMLS:C1864186 {source="Orphanet:85199", source="NCBI:mim2gene_medline", source="OMIM:603116", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015338 {source="Orphanet:85199"} ! syndromic craniosynostosis -is_a: MONDO:0019709 {source="Orphanet:85199"} ! cleidocranial dysplasia and isolated cranial ossification defect +is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary bone dysplasia property_value: confidence "7.125" xsd:double [Term] @@ -222565,8 +222588,7 @@ xref: OMIM:603233 {source="Orphanet:94089", source="DOID:0080222", source="MONDO xref: Orphanet:94089 {source="OMIM:603233", source="MONDO:equivalentTo"} xref: UMLS:C1864100 {source="OMIM:603233", source="Orphanet:94089", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2932715 {source="Orphanet:94089", source="MONDO:equivalentTo", source="ORDO:94089/e"} -is_a: MONDO:0018700 {source="Orphanet:94089"} ! pseudohypoparathyroidism without Albright hereditary osteodystrophy -is_a: MONDO:0019992 {source="DOID:0080222", source="MESH:C548075", source="Orphanet:94089", source="Orphanet:94089/inferred"} ! pseudohypoparathyroidism +is_a: MONDO:0019992 {source="DOID:0080222", source="MESH:C548075", source="MONDO:0018700-obsoleted", source="Orphanet:94089", source="Orphanet:94089/inferred"} ! pseudohypoparathyroidism property_value: confidence "14.833333333333334" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b xsd:anyURI {source="GARD:0010680"} @@ -224601,8 +224623,8 @@ xref: ICD10:D82.8 {source="Orphanet:221046", source="DOID:0060551", source="ORDO xref: OMIM:604173 {source="Orphanet:221046", source="DOID:0060551", source="ORDO:221046/e", source="MONDO:equivalentTo"} xref: Orphanet:221046 {source="DOID:0060551", source="MONDO:equivalentTo", source="OMIM:604173"} xref: UMLS:C1858723 {source="Orphanet:221046", source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="OMIM:604173"} +is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0016382 {source="Orphanet:221046"} ! hereditary poikiloderma -is_a: MONDO:0018032 {source="Orphanet:221046"} ! constitutional neutropenia with extra-hematopoietic manifestations relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25792 {source="mim2gene_medgen"} ! USB1 relationship: disease_has_feature MONDO:0001475 {source="Wikidata"} ! neutropenia property_value: confidence "30.666666666666668" xsd:double @@ -234512,7 +234534,7 @@ xref: Orphanet:381 {source="MONDO:subClassOf", source="OMIM:607624"} xref: Orphanet:79477 {source="OMIM:607624", source="MONDO:equivalentTo", source="DOID:0060833"} xref: UMLS:C1868679 {source="NCIT:C111814", source="OMIM:607624", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="DOID:0060833", source="ORDO:79477/e", source="Orphanet:79477"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C111814", source="indirect"} ! syndromic disease -is_a: MONDO:0018032 {source="Orphanet:79477"} ! constitutional neutropenia with extra-hematopoietic manifestations +is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0018042 {source="Orphanet:79477"} ! immunodeficiency syndrome with abnormal pigmentation is_a: MONDO:0018306 {source="DC-OMIM:607624", source="DOID:0060833", source="MONDO:Redundant", source="OMIM:607624", source="Orphanet:79477"} ! Griscelli syndrome is_a: MONDO:0019305 {source="Orphanet:79477"} ! immune deficiency with skin involvement @@ -236319,8 +236341,8 @@ xref: OMIM:608022 {source="ORDO:66637/e", source="MONDO:equivalentTo", source="O xref: Orphanet:66637 {source="MONDO:equivalentTo", source="OMIM:608022"} xref: SCTID:721094006 {source="MONDO:equivalentTo"} xref: UMLS:C1842691 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:66637", source="OMIM:608022"} +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0019694 {source="Orphanet:66637"} ! spondylodysplastic dysplasia -is_a: MONDO:0019711 {source="Orphanet:66637"} ! dysostosis with predominant vertebral and costal involvement relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24154 {source="mim2gene_medgen"} ! BMPER property_value: confidence "8.375" xsd:double @@ -237452,7 +237474,7 @@ xref: OMIM:608233 {source="DOID:0060540", source="MONDO:equivalentTo", source="O xref: Orphanet:183678 {source="MONDO:equivalentTo", source="OMIM:608233"} xref: Orphanet:79430 {source="MONDO:subClassOf", source="OMIM:608233"} xref: UMLS:C1842362 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608233", source="Orphanet:183678"} -is_a: MONDO:0018032 {source="Orphanet:183678"} ! constitutional neutropenia with extra-hematopoietic manifestations +is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0018042 {source="Orphanet:183678"} ! immunodeficiency syndrome with abnormal pigmentation is_a: MONDO:0019312 {source="DC-OMIM:608233", source="DOID:0060540", source="MESH:C537709", source="MONDO:Redundant", source="NCIT:C150368", source="OMIM:608233", source="Orphanet:183678"} ! Hermansky-Pudlak syndrome is_a: MONDO:0020244 {source="Orphanet:183678"} ! unclassified primitive or secondary maculopathy @@ -243447,7 +243469,7 @@ xref: OMIM:609537 {source="MONDO:equivalentTo"} xref: Orphanet:268835 {source="MONDO:equivalentTo"} xref: SCTID:104431000119107 {source="MONDO:equivalentTo"} xref: UMLS:C1836022 {source="OMIM:609537", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="ORDO:268835/e", source="Orphanet:268835"} -is_a: MONDO:0017083 {source="Orphanet:268835"} ! lipoma associated with neurospinal dysraphism +is_a: MONDO:0017059 {source="MONDO:0017083-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube closure defect property_value: confidence "6.142857142857142" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10053/lipomyelomeningocele xsd:anyURI {source="GARD:0010053"} @@ -245572,7 +245594,7 @@ xref: OMIM:610090 {source="ORDO:79096/e", source="MONDO:equivalentTo", source="O xref: Orphanet:79096 {source="MONDO:equivalentTo", source="OMIM:610090"} xref: SCTID:724576005 {source="MONDO:equivalentTo"} xref: UMLS:C1864723 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:79096", source="OMIM:610090"} -is_a: MONDO:0016404 {source="Orphanet:79096"} ! metabolic neurotransmission anomaly with epilepsy +is_a: MONDO:0015656 {source="MONDO:0016404-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! metabolic disease with epilepsy is_a: MONDO:0017760 {source="Orphanet:79096"} ! disorder of other vitamins and cofactors metabolism and transport is_a: MONDO:0019058 {source="Orphanet:79096"} ! neurometabolic disease is_a: MONDO:0019237 {source="Orphanet:79096"} ! inborn disorder of pyridoxine metabolism @@ -247640,8 +247662,8 @@ xref: OMIM:610474 {source="GARD:0010012", source="DOID:0111160", source="MONDO:e xref: Orphanet:85164 {source="GARD:0010012", source="OMIM:610474", source="DOID:0111160", source="MONDO:equivalentTo"} xref: UMLS:C1864852 {source="GARD:0010012", source="OMIM:610474", source="DOID:0111160", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:85164"} is_a: MONDO:0000429 {source="DOID:0111160"} ! autosomal genetic disease +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0019685 {source="Orphanet:85164"} ! FGFR3-related chondrodysplasia -is_a: MONDO:0019711 {source="Orphanet:85164"} ! dysostosis with predominant vertebral and costal involvement relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3690 {source="mim2gene_medgen"} ! FGFR3 property_value: confidence "3.666666666666667" xsd:double @@ -248928,7 +248950,7 @@ xref: Orphanet:90023 {source="MONDO:equivalentTo", source="OMIM:610798"} xref: SCTID:718717004 {source="MONDO:equivalentTo"} xref: UMLS:C1835829 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:90023", source="OMIM:610798"} xref: UMLS:C4305256 {source="MONDO:equivalentTo"} -is_a: MONDO:0018032 {source="Orphanet:90023"} ! constitutional neutropenia with extra-hematopoietic manifestations +is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29796 {source="mim2gene_medgen"} ! LAMTOR2 property_value: confidence "3.533333333333334" xsd:double @@ -250243,7 +250265,7 @@ xref: SCTID:725046003 {source="MONDO:equivalentTo"} xref: UMLS:C1970173 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611126", source="Orphanet:99901"} is_a: MONDO:0016328 {source="Orphanet:99901"} ! fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy is_a: MONDO:0016336 {source="Orphanet:99901"} ! fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy -is_a: MONDO:0016804 {source="Orphanet:99901"} ! exercise intolerance with lactic acidosis +is_a: MONDO:0017718 {source="MONDO:0016804-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21497 {source="mim2gene_medgen"} ! ACAD9 property_value: confidence "3.666666666666667" xsd:double @@ -250506,7 +250528,7 @@ is_a: MONDO:0018286 {source="Orphanet:263508"} ! non-X-linked congenital disorde is_a: MONDO:0018290 {source="Orphanet:263508"} ! congenital disorder of glycosylation with cardiac malformation as a major feature is_a: MONDO:0018292 {source="Orphanet:263508"} ! congenital disorder of glycosylation-related bone disorder is_a: MONDO:0018295 {source="Orphanet:263508"} ! congenital disorder of glycosylation with deafness as a major feature -is_a: MONDO:0019711 {source="Orphanet:263508"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6545 {source="mim2gene_medgen"} ! COG1 property_value: confidence "12.055555555555557" xsd:double @@ -252165,9 +252187,9 @@ xref: Orphanet:139406 {source="MONDO:equivalentTo", source="OMIM:611721"} xref: SCTID:720864008 {source="MONDO:equivalentTo"} xref: UMLS:C2673635 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611721"} xref: UMLS:C4303785 {source="MONDO:equivalentTo"} -is_a: MONDO:0018299 {source="Orphanet:139406"} ! sphingolipidosis with epilepsy +is_a: MONDO:0016397 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! lysosomal disease with epilepsy is_a: MONDO:0019058 {source="Orphanet:139406"} ! neurometabolic disease -is_a: MONDO:0019255 {source="MESH:C567125/inferred", source="Orphanet:139406", source="indirect", source="linkedlifedata"} ! sphingolipidosis +is_a: MONDO:0019255 {source="MESH:C567125/inferred", source="MONDO:0018299-obsoleted", source="Orphanet:139406", source="indirect", source="linkedlifedata"} ! sphingolipidosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9498 {source="mim2gene_medgen"} ! PSAP property_value: confidence "2.692307692307692" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12505/encephalopathy-due-to-prosaposin-deficiency xsd:anyURI {source="GARD:0012505"} @@ -254611,7 +254633,7 @@ is_a: MONDO:0000426 {source="DOID:0111161", source="MONDO:Redundant", source="li is_a: MONDO:0005363 {source="NCIT:C38145"} ! focal segmental glomerulosclerosis is_a: MONDO:0005381 {source="DOID:0111161", source="MESH:C567382/inferred", source="Orphanet:93262/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bone disease is_a: MONDO:0015338 {source="Orphanet:93262"} ! syndromic craniosynostosis -is_a: MONDO:0020254 {source="Orphanet:93262"} ! craniostenosis associated with a strabismus +is_a: MONDO:0020253 {source="MONDO:0020254-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with a symptomatic strabismus relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3690 {source="mim2gene_medgen"} ! FGFR3 relationship: has_modifier HP:0000006 {source="HPOA", source="OMIM:612247", source="Orphanet:93262"} ! Autosomal dominant inheritance property_value: confidence "7.125" xsd:double @@ -256218,8 +256240,13 @@ xref: Orphanet:79444 {source="OMIM:612462", source="MONDO:equivalentTo"} xref: SCTID:717792007 {source="MONDO:equivalentTo"} xref: UMLS:C2675910 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDiseaseSubset"} xref: UMLS:C2932716 {source="OMIM:612462", source="MONDO:equivalentTo", source="ORDO:79444/e", source="Orphanet:79444"} +is_a: MONDO:0016565 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndromic genetic obesity is_a: MONDO:0018379 {source="Orphanet:79444"} ! primary avascular necrosis -is_a: MONDO:0018699 {source="Orphanet:79444"} ! pseudohypoparathyroidism with Albright hereditary osteodystrophy +is_a: MONDO:0018798 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! other genetic dermis disorder +is_a: MONDO:0019695 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! acromelic dysplasia +is_a: MONDO:0019992 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism +is_a: MONDO:0020232 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! musculoskeletal disease with cataract +is_a: MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dermis disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4392 {source="mim2gene_medgen"} ! GNAS property_value: confidence "14.833333333333334" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c xsd:anyURI {source="GARD:0010681"} @@ -256254,7 +256281,12 @@ xref: SCTID:190867002 {source="DOID:4183"} xref: SCTID:237659007 {source="MONDO:equivalentTo", source="DOID:4183"} xref: SCTID:8084001 {source="DOID:4183"} xref: UMLS:C0033835 {source="OMIM:612463", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129722", source="DOID:4183", source="ORDO:79445/e", source="Orphanet:79445"} -is_a: MONDO:0018699 {source="Orphanet:79445"} ! pseudohypoparathyroidism with Albright hereditary osteodystrophy +is_a: MONDO:0016565 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndromic genetic obesity +is_a: MONDO:0018798 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! other genetic dermis disorder +is_a: MONDO:0019695 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! acromelic dysplasia +is_a: MONDO:0019992 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism +is_a: MONDO:0020232 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! musculoskeletal disease with cataract +is_a: MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dermis disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4392 {source="mim2gene_medgen"} ! GNAS property_value: confidence "4.277777777777779" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism xsd:anyURI {source="GARD:0007860"} @@ -257837,8 +257869,8 @@ is_a: MONDO:0002356 {source="MONDO:Redundant", source="Orphanet:199337", source= is_a: MONDO:0009068 {source="linkedlifedata"} ! cytochrome-c oxidase deficiency disease is_a: MONDO:0016578 {source="Orphanet:199337"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is_a: MONDO:0017397 {source="Orphanet:199337", source="indirect"} ! constitutional dyserythropoietic anemia +is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary bone dysplasia is_a: MONDO:0019403 {source="MESH:C567195", source="linkedlifedata"} ! congenital dyserythropoietic anemia -is_a: MONDO:0019709 {source="Orphanet:199337"} ! cleidocranial dysplasia and isolated cranial ossification defect relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16232 {source="mim2gene_medgen"} ! COX4I2 relationship: has_modifier MONDO:0021136 {source="MONDO:0015112", source="MONDO:0015618"} ! rare property_value: confidence "3.533333333333334" xsd:double @@ -260058,8 +260090,9 @@ xref: OMIMPS:613038 {source="MONDO:equivalentTo"} xref: Orphanet:95494 {source="OMIM:613038", source="MONDO:equivalentTo"} xref: SCTID:718182008 {source="MONDO:equivalentTo"} xref: UMLS:C2751608 {source="NCBI:mim2gene_medline", source="OMIM:613038", source="MONDO:superClassOf"} +is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0015789 {source="Orphanet:95494"} ! non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations -is_a: MONDO:0015891 {source="Orphanet:95494"} ! hypogonadotropic hypogonadism associated with other endocrinopathies +is_a: MONDO:0018398 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! female infertility due to a congenital hypogonadotropic hypogonadism intersection_of: MONDO:0005152 ! hypopituitarism intersection_of: has_modifier MONDO:0021152 ! inherited property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism xsd:anyURI {source="GARD:0002252"} @@ -261389,7 +261422,7 @@ xref: OMIM:613161 {source="MONDO:equivalentTo", source="ORDO:65287/e", source="O xref: Orphanet:65287 {source="MONDO:equivalentTo", source="OMIM:613161"} xref: SCTID:124511000 {source="MONDO:equivalentTo"} xref: UMLS:C1291512 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613161", source="ORDO:65287/e", source="Orphanet:65287"} -is_a: MONDO:0016404 {source="Orphanet:65287"} ! metabolic neurotransmission anomaly with epilepsy +is_a: MONDO:0015656 {source="MONDO:0016404-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! metabolic disease with epilepsy is_a: MONDO:0019058 {source="Orphanet:65287"} ! neurometabolic disease is_a: MONDO:0019238 {source="Orphanet:65287"} ! inborn disorder of pyrimidine metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16297 {source="mim2gene_medgen"} ! UPB1 @@ -261449,7 +261482,7 @@ xref: Orphanet:2066 {source="MONDO:equivalentTo", source="GARD:0000194", source= xref: SCTID:237941007 {source="MONDO:equivalentTo"} xref: UMLS:C0342708 {source="Orphanet:2066", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="GARD:0000194", source="OMIM:613163", source="ORDO:2066/e"} is_a: MONDO:0000698 {source="DOID:0060174"} ! gamma-amino butyric acid metabolism disorder -is_a: MONDO:0016404 {source="Orphanet:2066"} ! metabolic neurotransmission anomaly with epilepsy +is_a: MONDO:0015656 {source="MONDO:0016404-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! metabolic disease with epilepsy is_a: MONDO:0017684 {source="Orphanet:2066", source="linkedlifedata"} ! disorder of beta and omega amino acid metabolism is_a: MONDO:0019058 {source="Orphanet:2066"} ! neurometabolic disease relationship: disease_has_basis_in_disruption_of GO:0003867 ! 4-aminobutyrate transaminase activity @@ -269282,8 +269315,8 @@ xref: Orphanet:3226 {source="OMIM:614038", source="MONDO:equivalentTo"} xref: SCTID:700057001 {source="MONDO:equivalentTo"} xref: UMLS:C3279664 {source="OMIM:614038", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:3226", source="Orphanet:3226/inferred"} ! genetic vascular anomaly -is_a: MONDO:0018722 {source="Orphanet:3226"} ! primary lymphedema with associated anomalies is_a: MONDO:0019044 {source="Orphanet:3226"} ! tumor of hematopoietic and lymphoid tissues +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:3226"} ! syndromic lymphedema is_a: MONDO:0019589 {source="Orphanet:3226"} ! syndromic genetic deafness is_a: MONDO:0042982 {source="https://github.com/monarch-initiative/mondo/issues/261"} ! GATA2 deficiency with susceptibility to MDS/AML @@ -270042,7 +270075,7 @@ xref: OMIM:614102 {source="MONDO:equivalentTo", source="ORDO:183675/e", source=" xref: Orphanet:183675 {source="OMIM:614102", source="MONDO:equivalentTo"} xref: UMLS:C0162539 {source="Orphanet:183675"} xref: UMLS:C3279824 {source="OMIM:614102", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:183675"} -is_a: MONDO:0018038 {source="Orphanet:183675"} ! immunodeficiency with isotype or light chain deficiencies with normal number of B-cells +is_a: MONDO:0015132 {source="MONDO:0018038-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! immunodeficiency predominantly affecting antibody production relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5716 {source="mim2gene_medgen"} ! IGKC property_value: confidence "3.666666666666667" xsd:double @@ -270986,8 +271019,8 @@ xref: OMIM:614199 {source="Orphanet:306507", source="ORDO:306507/e", source="MON xref: Orphanet:306507 {source="MONDO:equivalentTo", source="OMIM:614199"} xref: UMLS:C3280113 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614199"} is_a: MONDO:0002350 {source="OMIM:614199"} ! familial nephrotic syndrome -is_a: MONDO:0005377 {source="DC-OMIM:614199", source="MONDO:Redundant", source="OMIM:614199", source="indirect"} ! nephrotic syndrome -is_a: MONDO:0019987 {source="Orphanet:306507"} ! congenital and infantile nephrotic syndrome +is_a: MONDO:0005377 {source="DC-OMIM:614199", source="MONDO:0019987-obsoleted", source="MONDO:Redundant", source="OMIM:614199", source="indirect"} ! nephrotic syndrome +is_a: MONDO:0015163 {source="MONDO:0019987-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary glomerular disease intersection_of: MONDO:0005377 ! nephrotic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6487 ! LAMB2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6487 {source="mim2gene_medgen"} ! LAMB2 @@ -278584,7 +278617,8 @@ xref: ICD10:E66.8 {source="ORDO:66628/attributed", source="ORDO:66628/ntbt", sou xref: OMIM:614962 {source="ORDO:66628/e", source="MONDO:equivalentTo", source="Orphanet:66628"} xref: Orphanet:66628 {source="OMIM:614962", source="MONDO:equivalentTo"} xref: UMLS:C3554224 {source="OMIM:614962", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015891 {source="Orphanet:66628"} ! hypogonadotropic hypogonadism associated with other endocrinopathies +is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism +is_a: MONDO:0018398 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! female infertility due to a congenital hypogonadotropic hypogonadism is_a: MONDO:0020075 {source="Orphanet:66628"} ! genetic non-syndromic obesity intersection_of: MONDO:0020075 ! genetic non-syndromic obesity intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6553 ! LEP @@ -278603,8 +278637,9 @@ xref: NCIT:C120386 {source="MONDO:equivalentTo"} xref: OMIM:614963 {source="MONDO:equivalentTo", source="ORDO:179494/e", source="Orphanet:179494"} xref: Orphanet:179494 {source="OMIM:614963", source="MONDO:equivalentTo"} xref: UMLS:C3554225 {source="NCBI:mim2gene_medline", source="OMIM:614963", source="MONDO:equivalentTo"} +is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0015825 {source="Orphanet:179494"} ! obesity due to congenital leptin resistance -is_a: MONDO:0015891 {source="Orphanet:179494"} ! hypogonadotropic hypogonadism associated with other endocrinopathies +is_a: MONDO:0018398 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! female infertility due to a congenital hypogonadotropic hypogonadism intersection_of: MONDO:0020075 ! genetic non-syndromic obesity intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6554 ! LEPR relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6554 {source="mim2gene_medgen"} ! LEPR @@ -281246,7 +281281,7 @@ xref: ICD10:D70 {source="MONDO:subClassOf", source="Orphanet:369852", source="OR xref: OMIM:615285 {source="Orphanet:369852", source="ORDO:369852/e", source="MONDO:equivalentTo"} xref: Orphanet:369852 {source="MONDO:equivalentTo", source="OMIM:615285"} xref: UMLS:C3809031 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615285"} -is_a: MONDO:0018032 {source="Orphanet:369852"} ! constitutional neutropenia with extra-hematopoietic manifestations +is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0018542 {source="DC-OMIM:615285", source="MONDOLEX:0014118", source="OMIM:615285"} ! severe congenital neutropenia intersection_of: MONDO:0018542 ! severe congenital neutropenia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14579 ! VPS45 @@ -285332,7 +285367,7 @@ xref: ICD10:D84.8 {source="ORDO:437552/attributed", source="ORDO:437552/ntbt", s xref: OMIM:615707 {source="MONDO:equivalentTo", source="ORDO:437552/e", source="Orphanet:437552"} xref: Orphanet:437552 {source="MONDO:equivalentTo"} xref: UMLS:C3810342 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615707"} -is_a: MONDO:0018545 {source="Orphanet:437552"} ! primary immunodeficiency with predisposition to severe viral infection +is_a: MONDO:0015135 {source="MONDO:0018545-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary immunodeficiency due to a genetic defect in innate immunity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3619 {source="mim2gene_medgen"} ! FCGR3A property_value: confidence "2.692307692307692" xsd:double @@ -285347,7 +285382,7 @@ xref: ICD10:Q87.5 {source="ORDO:397927/attributed", source="ORDO:397927/ntbt", s xref: OMIM:615709 {source="MONDO:equivalentTo", source="Orphanet:397927", source="ORDO:397927/e"} xref: Orphanet:397927 {source="MONDO:equivalentTo", source="OMIM:615709"} xref: UMLS:C3810343 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615709"} -is_a: MONDO:0017085 {source="Orphanet:397927"} ! malformation of the neurenteric canal, spinal cord and column +is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11515 {source="mim2gene_medgen"} ! TBXT property_value: confidence "8.333333333333334" xsd:double @@ -286485,8 +286520,8 @@ xref: Orphanet:411986 {source="MONDO:equivalentTo", source="OMIM:615859"} xref: UMLS:C4014492 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:411986", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:411986"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease is_a: MONDO:0015653 {source="Orphanet:411986", source="indirect"} ! monogenic epilepsy -is_a: MONDO:0020262 {source="Orphanet:411986"} ! nervous system anomaly with eye involvement is_a: MONDO:0100062 {source="DC-OMIM:615859", source="OMIM:615859"} ! developmental and epileptic encephalopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19190 {source="mim2gene_medgen"} ! DOCK7 relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -287132,7 +287167,7 @@ xref: DOID:0070316 {source="MONDO:equivalentTo"} xref: OMIM:615923 {source="Orphanet:329191", source="ORDO:329191/e", source="MONDO:equivalentTo"} xref: Orphanet:329191 {source="MONDO:equivalentTo", source="OMIM:615923"} xref: UMLS:C4014690 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019711 {source="Orphanet:329191"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7944 {source="mim2gene_medgen"} ! NPR2 property_value: confidence "2.692307692307692" xsd:double @@ -289683,8 +289718,10 @@ xref: NCIT:C142804 {source="MONDO:equivalentTo"} xref: OMIM:616187 {source="Orphanet:435438", source="ORDO:435438/e", source="MONDO:equivalentTo"} xref: Orphanet:435438 {source="MONDO:equivalentTo"} xref: UMLS:C4015420 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017655 {source="Orphanet:435438"} ! progressive epilepsy and/or ataxia with myoclonus as a major feature +is_a: MONDO:0017652 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare disease with myoclonus as a major feature +is_a: MONDO:0017665 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare genetic disease with myoclonus as a major feature is_a: MONDO:0020074 {source="DC-OMIM:616187", source="MONDO:Redundant", source="NCIT:C142804", source="OMIM:616187", source="Orphanet:435438"} ! progressive myoclonus epilepsy +is_a: MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! variable age onset epilepsy intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6233 ! KCNC1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6233 {source="mim2gene_medgen"} ! KCNC1 @@ -291553,8 +291590,8 @@ xref: Orphanet:443995 {source="MONDO:equivalentTo"} xref: UMLS:C4225349 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:0060365", source="MONDO:Redundant", source="indirect"} ! syndromic disease is_a: MONDO:0015483 {source="Orphanet:443995"} ! mandibulofacial dysostosis +is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0019589 {source="Orphanet:443995"} ! syndromic genetic deafness -is_a: MONDO:0019710 {source="Orphanet:443995", source="Orphanet:443995/inferred"} ! dysostosis with predominant craniofacial involvement is_a: MONDO:0021034 {source="OWLReasoner:2017", source="Orphanet:443995"} ! genetic alopecia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3179 {source="mim2gene_medgen"} ! EDNRA property_value: confidence "4.7142857142857135" xsd:double @@ -293152,7 +293189,7 @@ xref: OMIM:616549 {source="Orphanet:447974", source="ORDO:447974/e", source="MON xref: Orphanet:447974 {source="MONDO:equivalentTo"} xref: UMLS:C4225285 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0001029 {source="OMIM:616549"} ! Klippel-Feil syndrome -is_a: MONDO:0019711 {source="MONDO:Redundant", source="Orphanet:447974", source="indirect"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0019952 {source="Orphanet:447974"} ! congenital myopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18150 {source="mim2gene_medgen"} ! MYO18B relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome @@ -293664,8 +293701,8 @@ synonym: "seizures, cortical blindness, microcephaly syndrome" EXACT [OMIM:61663 xref: OMIM:616632 {source="MONDO:equivalentTo", source="Orphanet:477814"} xref: Orphanet:477814 {source="MONDO:equivalentTo"} xref: UMLS:C4225261 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} +is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease is_a: MONDO:0017119 {source="Orphanet:477814"} ! syndrome with microcephaly as major feature -is_a: MONDO:0020262 {source="Orphanet:477814"} ! nervous system anomaly with eye involvement relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2876 {source="mim2gene_medgen"} ! DIAPH1 property_value: confidence "0.5" xsd:double @@ -293684,7 +293721,7 @@ xref: OMIM:616636 {source="Orphanet:431166", source="ORDO:431166/e", source="MON xref: OMIM:616669 {source="Orphanet:431166", source="MONDO:superClassOf"} xref: Orphanet:431166 {source="MONDO:equivalentTo"} xref: UMLS:C4225260 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018545 {source="Orphanet:431166"} ! primary immunodeficiency with predisposition to severe viral infection +is_a: MONDO:0015135 {source="MONDO:0018545-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary immunodeficiency due to a genetic defect in innate immunity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11363 {source="mim2gene_medgen"} ! STAT2 property_value: confidence "0.1428571428571428" xsd:double @@ -295841,7 +295878,7 @@ xref: UMLS:C4310801 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo" is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:459061", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:459061"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015329 {source="Orphanet:459061"} ! malformation syndrome with short stature -is_a: MONDO:0019710 {source="Orphanet:459061"} ! dysostosis with predominant craniofacial involvement +is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3003 {source="mim2gene_medgen"} ! DPH1 relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare property_value: confidence "8.333333333333334" xsd:double @@ -299196,8 +299233,8 @@ xref: UMLS:C4310627 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo" is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:505248", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:505248"} ! respiratory system disease is_a: MONDO:0015159 {source="Orphanet:505248"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0019249 {source="MONDO:cjm"} ! mucopolysaccharidosis -is_a: MONDO:0019711 {source="Orphanet:505248"} ! dysostosis with predominant vertebral and costal involvement relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18179 {source="mim2gene_medgen"} ! VPS33A relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015510", source="MONDO:0015983"} ! rare @@ -302543,7 +302580,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1121"} xref: ICD10:Q73.8 {source="Orphanet:1121", source="ORDO:1121/attributed", source="ORDO:1121/ntbt"} xref: Orphanet:1121 {source="MONDO:equivalentTo"} xref: UMLS:CN226642 {source="MONDO:equivalentTo"} -is_a: MONDO:0017433 {source="Orphanet:1121"} ! dysostosis with combined reduction defects of upper and lower limbs +is_a: MONDO:0015226 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with limb malformations as a major feature +is_a: MONDO:0018455 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin with limb anomaly as a major feature [Term] id: MONDO:0015233 @@ -302772,8 +302810,8 @@ xref: OMIMPS:213200 {source="MONDO:equivalentTo"} xref: Orphanet:1172 {source="MONDO:equivalentTo"} xref: UMLS:CN226644 {source="MONDO:equivalentTo"} is_a: MONDO:0000557 {source="DOID:0050950", source="Orphanet:1172"} ! hereditary ataxia -is_a: MONDO:0020139 {source="Orphanet:1172"} ! early-onset ataxia with dementia -is_a: MONDO:0020263 {source="Orphanet:1172"} ! spinocerebellar ataxia with oculomotor anomaly +is_a: MONDO:0015368 {source="MONDO:0020263-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease +is_a: MONDO:0020138 {source="MONDO:0020139-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! ataxia with dementia intersection_of: MONDO:0000437 ! cerebellar ataxia intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance @@ -305230,7 +305268,8 @@ xref: ICD10:Q16.1 {source="Orphanet:141074", source="ORDO:141074/e", source="ORD xref: OMIM:108760 {source="Orphanet:141074", source="MONDO:superClassOf", source="ORDO:141074/btnt"} xref: OMIM:607842 {source="Orphanet:141074", source="MONDO:superClassOf", source="ORDO:141074/btnt"} xref: Orphanet:141074 {source="MONDO:equivalentTo"} -is_a: MONDO:0015502 {source="Orphanet:141074"} ! pinnae and external auditory canal anomaly +is_a: MONDO:0018562 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic otorhinolaryngological malformation +is_a: MONDO:0019936 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare otorhinolaryngological malformation [Term] id: MONDO:0015386 @@ -307168,11 +307207,10 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0020017"} ! rare [Term] id: MONDO:0015502 -name: pinnae and external auditory canal anomaly +name: obsolete pinnae and external auditory canal anomaly subset: ordo_group_of_disorders {source="Orphanet:156243"} -xref: Orphanet:156243 {source="MONDO:equivalentTo"} -is_a: MONDO:0018562 {source="Orphanet:156243"} ! genetic otorhinolaryngological malformation -is_a: MONDO:0019936 {source="Orphanet:156243"} ! rare otorhinolaryngological malformation +xref: Orphanet:156243 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0015503 @@ -308431,7 +308469,8 @@ xref: ICD10:G40.5 {source="ORDO:163703/ntbt", source="Orphanet:163703"} xref: Orphanet:163703 {source="MONDO:equivalentTo"} xref: SCTID:725413002 {source="MONDO:equivalentTo"} xref: UMLS:CN199955 {source="MONDO:equivalentTo"} -is_a: MONDO:0018200 {source="Orphanet:163703"} ! acute encephalopathy with inflammation-mediated status epilepticus +is_a: MONDO:0015657 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! inflammatory and autoimmune disease with epilepsy +is_a: MONDO:0020072 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! childhood-onset epilepsy syndrome property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11005/febrile-infection-related-epilepsy-syndrome xsd:anyURI {source="GARD:0011005"} [Term] @@ -310072,7 +310111,7 @@ xref: ICD9:279.03 {source="MONDO:relatedTo", source="i2s"} xref: Orphanet:169110 {source="MONDO:equivalentTo"} xref: SCTID:234539005 {source="MONDO:equivalentTo"} xref: UMLS:C0398692 {source="MONDO:equivalentTo", source="ORDO:169110/e", source="Orphanet:169110"} -is_a: MONDO:0018038 {source="Orphanet:169110"} ! immunodeficiency with isotype or light chain deficiencies with normal number of B-cells +is_a: MONDO:0015132 {source="MONDO:0018038-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! immunodeficiency predominantly affecting antibody production [Term] id: MONDO:0015698 @@ -312027,7 +312066,7 @@ xref: Orphanet:1794 {source="MONDO:equivalentTo", source="GARD:0004046"} xref: SCTID:763830009 {source="MONDO:equivalentTo"} xref: UMLS:C1838348 {source="Orphanet:1794", source="ORDO:1794/e", source="MONDO:equivalentTo", source="GARD:0004046"} is_a: MONDO:0015335 {source="Orphanet:1794"} ! orofacial clefting syndrome -is_a: MONDO:0019710 {source="Orphanet:1794"} ! dysostosis with predominant craniofacial involvement +is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin [Term] id: MONDO:0015825 @@ -312051,7 +312090,7 @@ xref: SCTID:716232002 {source="MONDO:equivalentTo"} xref: UMLS:C4274761 {source="MONDO:equivalentTo"} xref: UMLS:CN200437 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease -is_a: MONDO:0019711 {source="Orphanet:1797"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin intersection_of: MONDO:0000359 ! spondylocostal dysostosis intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance relationship: has_modifier HP:0000006 {source="Orphanet:1797"} ! Autosomal dominant inheritance @@ -312876,11 +312915,10 @@ property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 x [Term] id: MONDO:0015891 -name: hypogonadotropic hypogonadism associated with other endocrinopathies +name: obsolete hypogonadotropic hypogonadism associated with other endocrinopathies subset: ordo_group_of_disorders {source="Orphanet:181390"} -xref: Orphanet:181390 {source="MONDO:equivalentTo"} -is_a: MONDO:0015770 {source="Orphanet:181390"} ! congenital hypogonadotropic hypogonadism -is_a: MONDO:0018398 {source="Orphanet:181390"} ! female infertility due to a congenital hypogonadotropic hypogonadism +xref: Orphanet:181390 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0015892 @@ -316328,7 +316366,7 @@ xref: SCTID:719268008 {source="MONDO:equivalentTo"} xref: UMLS:C4304839 {source="MONDO:equivalentTo"} xref: UMLS:CN200850 {source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:2062"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability -is_a: MONDO:0019711 {source="Orphanet:2062"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin [Term] id: MONDO:0016088 @@ -316566,7 +316604,7 @@ xref: MESH:D008380 {source="MONDO:equivalentTo"} xref: Orphanet:206586 {source="MONDO:equivalentTo"} xref: SCTID:766752000 {source="MONDO:equivalentTo"} xref: UMLS:C0024793 {source="MONDO:equivalentTo"} -is_a: MONDO:0016138 {source="Orphanet:206586"} ! malignant lymphoma with peripheral neuropathy +is_a: MONDO:0016180 {source="MONDO:0016138-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! hematological disease associated with an acquired peripheral neuropathy [Term] id: MONDO:0016102 @@ -316953,10 +316991,10 @@ intersection_of: realized_in_response_to_stimulus NCBITaxon:4751 ! Fungi [Term] id: MONDO:0016131 -name: spinal muscular atrophy associated with central nervous system anomaly +name: obsolete spinal muscular atrophy associated with central nervous system anomaly subset: ordo_group_of_disorders {source="Orphanet:207012"} -xref: Orphanet:207012 {source="MONDO:equivalentTo"} -is_a: MONDO:0016113 {source="Orphanet:207012"} ! bulbospinal muscular atrophy +xref: Orphanet:207012 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0016132 @@ -317016,10 +317054,10 @@ is_a: MONDO:0015923 {source="Orphanet:207038"} ! acquired peripheral neuropathy [Term] id: MONDO:0016138 -name: malignant lymphoma with peripheral neuropathy +name: obsolete malignant lymphoma with peripheral neuropathy subset: ordo_group_of_disorders {source="Orphanet:207046"} -xref: Orphanet:207046 {source="MONDO:equivalentTo"} -is_a: MONDO:0016180 {source="Orphanet:207046"} ! hematological disease associated with an acquired peripheral neuropathy +xref: Orphanet:207046 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0016139 @@ -318664,7 +318702,7 @@ is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2136", source="i is_a: MONDO:0015159 {source="Orphanet:2136"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:2136", source="Orphanet:2136/inferred"} ! genetic vascular anomaly is_a: MONDO:0018035 {source="Orphanet:2136"} ! syndrome with combined immunodeficiency -is_a: MONDO:0018722 {source="Orphanet:2136"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:2136"} ! syndromic lymphedema relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -320944,7 +320982,7 @@ xref: Orphanet:2254 {source="MONDO:equivalentTo"} xref: SCTID:718610008 {source="MONDO:equivalentTo"} xref: UMLS:C1843504 {source="Orphanet:2254", source="ORDO:2254/e", source="MONDO:equivalentTo"} xref: UMLS:C3280537 {source="OMIM:614339", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0016131 {source="Orphanet:2254"} ! spinal muscular atrophy associated with central nervous system anomaly +is_a: MONDO:0016113 {source="MONDO:0016131-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! bulbospinal muscular atrophy is_a: MONDO:0019502 {source="DC-OMIM:614339"} ! autosomal recessive non-syndromic intellectual disability is_a: MONDO:0020135 {source="Orphanet:2254", source="linkedlifedata"} ! pontocerebellar hypoplasia @@ -321014,10 +321052,10 @@ is_a: MONDO:0016133 {source="Orphanet:225703"} ! rare hereditary metabolic disea [Term] id: MONDO:0016404 -name: metabolic neurotransmission anomaly with epilepsy +name: obsolete metabolic neurotransmission anomaly with epilepsy subset: ordo_group_of_disorders {source="Orphanet:225707"} -xref: Orphanet:225707 {source="MONDO:equivalentTo"} -is_a: MONDO:0015656 {source="Orphanet:225707"} ! metabolic disease with epilepsy +xref: Orphanet:225707 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0016405 @@ -324477,7 +324515,7 @@ xref: MESH:C537238 {source="MONDO:equivalentTo", source="ORDO:2482/e", source="O xref: Orphanet:2482 {source="MONDO:equivalentTo"} xref: SCTID:732263008 {source="MONDO:equivalentTo"} xref: UMLS:C2931453 {source="MONDO:equivalentTo", source="ORDO:2482/e", source="Orphanet:2482"} -is_a: MONDO:0019711 {source="Orphanet:2482"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3462/melhem-fahl-syndrome xsd:anyURI {source="GARD:0003462"} [Term] @@ -324780,7 +324818,7 @@ xref: Orphanet:250 {source="MONDO:equivalentTo"} xref: SCTID:86610004 {source="MONDO:equivalentTo"} xref: UMLS:C0432106 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:250/e", source="Orphanet:250"} xref: UMLS:C1876203 {source="MONDO:equivalentTo", source="NCIT:C129028", source="ORDO:250/e", source="Orphanet:250"} -is_a: MONDO:0019710 {source="Orphanet:250"} ! dysostosis with predominant craniofacial involvement +is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin [Term] id: MONDO:0016644 @@ -325092,8 +325130,8 @@ xref: OMIMPS:251200 {source="MONDO:equivalentTo", source="DC:0000277"} xref: Orphanet:2512 {source="MONDO:equivalentTo"} xref: SCTID:715981004 {source="MONDO:equivalentTo"} xref: UMLS:C3711387 {source="MONDO:equivalentTo", source="Orphanet:2512"} +is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease is_a: MONDO:0016056 {source="Orphanet:2512"} ! isolated congenital microcephaly -is_a: MONDO:0020262 {source="Orphanet:2512"} ! nervous system anomaly with eye involvement intersection_of: MONDO:0016056 ! isolated congenital microcephaly intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly xsd:anyURI {source="GARD:0012117"} @@ -326915,7 +326953,7 @@ xref: OMIM:617026 {source="ORDO:2524/btnt", source="Orphanet:2524", source="MOND xref: Orphanet:2524 {source="MONDO:equivalentTo"} xref: SCTID:715463008 {source="MONDO:equivalentTo"} xref: UMLS:C2932714 {source="MONDO:equivalentTo", source="NCIT:C124057", source="Orphanet:2524", source="ORDO:2524/e"} -is_a: MONDO:0016131 {source="Orphanet:2524"} ! spinal muscular atrophy associated with central nervous system anomaly +is_a: MONDO:0016113 {source="MONDO:0016131-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! bulbospinal muscular atrophy is_a: MONDO:0020135 {source="Orphanet:2524", source="linkedlifedata"} ! pontocerebellar hypoplasia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2 xsd:anyURI {source="GARD:0010705"} @@ -327568,10 +327606,10 @@ is_a: MONDO:0004069 {source="Orphanet:254837"} ! inborn mitochondrial metabolism [Term] id: MONDO:0016804 -name: exercise intolerance with lactic acidosis +name: obsolete exercise intolerance with lactic acidosis subset: ordo_group_of_disorders {source="Orphanet:254843"} -xref: Orphanet:254843 {source="MONDO:equivalentTo"} -is_a: MONDO:0017718 {source="Orphanet:254843"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes +xref: Orphanet:254843 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0016805 @@ -330567,24 +330605,24 @@ is_a: MONDO:0020059 {source="Orphanet:263714"} ! gonosome number anomaly [Term] id: MONDO:0017000 -name: X chromosome number anomaly with female phenotype +name: obsolete X chromosome number anomaly with female phenotype subset: ordo_group_of_disorders {source="Orphanet:263717"} -xref: Orphanet:263717 {source="MONDO:equivalentTo"} -is_a: MONDO:0016999 {source="Orphanet:263717"} ! X chromosome number anomaly +xref: Orphanet:263717 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0017001 -name: X chromosome number anomaly with male phenotype +name: obsolete X chromosome number anomaly with male phenotype subset: ordo_group_of_disorders {source="Orphanet:263720"} -xref: Orphanet:263720 {source="MONDO:equivalentTo"} -is_a: MONDO:0016999 {source="Orphanet:263720"} ! X chromosome number anomaly +xref: Orphanet:263720 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0017002 name: polysomy of X chromosome subset: ordo_group_of_disorders {source="Orphanet:263723"} xref: Orphanet:263723 {source="MONDO:equivalentTo"} -is_a: MONDO:0017000 {source="Orphanet:263723"} ! X chromosome number anomaly with female phenotype +is_a: MONDO:0016999 {source="MONDO:0017000-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! X chromosome number anomaly [Term] id: MONDO:0017003 @@ -331599,10 +331637,10 @@ is_a: MONDO:0016057 {source="MONDOLEX:0017082", source="Orphanet:268829"} ! isol [Term] id: MONDO:0017083 -name: lipoma associated with neurospinal dysraphism +name: obsolete lipoma associated with neurospinal dysraphism subset: ordo_group_of_disorders {source="Orphanet:268832"} -xref: Orphanet:268832 {source="MONDO:equivalentTo"} -is_a: MONDO:0017059 {source="Orphanet:268832"} ! neural tube closure defect +xref: Orphanet:268832 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0017084 @@ -331610,14 +331648,14 @@ name: leptomyelolipoma def: "Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present." [Orphanet:268838] subset: ordo_morphological_anomaly {source="Orphanet:268838"} xref: Orphanet:268838 {source="MONDO:equivalentTo"} -is_a: MONDO:0017083 {source="Orphanet:268838"} ! lipoma associated with neurospinal dysraphism +is_a: MONDO:0017059 {source="MONDO:0017083-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube closure defect [Term] id: MONDO:0017085 -name: malformation of the neurenteric canal, spinal cord and column +name: obsolete malformation of the neurenteric canal, spinal cord and column subset: ordo_group_of_disorders {source="Orphanet:268843"} -xref: Orphanet:268843 {source="MONDO:equivalentTo"} -is_a: MONDO:0018075 {source="Orphanet:268843"} ! neural tube defect +xref: Orphanet:268843 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0017086 @@ -331633,7 +331671,7 @@ xref: GARD:0004018 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: Orphanet:268861 {source="MONDO:equivalentTo"} xref: SCTID:70534000 {source="MONDO:equivalentTo"} xref: UMLS:CN202446 {source="MONDO:equivalentTo"} -is_a: MONDO:0017085 {source="Orphanet:268861"} ! malformation of the neurenteric canal, spinal cord and column +is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect [Term] id: MONDO:0017087 @@ -331641,7 +331679,7 @@ name: neurenteric cyst subset: ordo_morphological_anomaly {source="Orphanet:268865"} xref: Orphanet:268865 {source="MONDO:equivalentTo"} xref: UMLS:C0027806 {source="Orphanet:268865", source="ORDO:268865/e", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0017085 {source="Orphanet:268865"} ! malformation of the neurenteric canal, spinal cord and column +is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect [Term] id: MONDO:0017088 @@ -331649,7 +331687,7 @@ name: isolated amyelia subset: ordo_morphological_anomaly {source="Orphanet:268868"} xref: ICD10:Q06.0 {source="ORDO:268868/e", source="Orphanet:268868", source="ORDO:268868/specific"} xref: Orphanet:268868 {source="MONDO:equivalentTo"} -is_a: MONDO:0017085 {source="Orphanet:268868"} ! malformation of the neurenteric canal, spinal cord and column +is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect [Term] id: MONDO:0017089 @@ -331788,7 +331826,7 @@ subset: ordo_disease {source="Orphanet:2690"} xref: ICD10:D82.8 {source="Orphanet:2690", source="ORDO:2690/attributed", source="ORDO:2690/ntbt"} xref: Orphanet:2690 {source="MONDO:equivalentTo"} xref: UMLS:CN202458 {source="MONDO:equivalentTo"} -is_a: MONDO:0018032 {source="Orphanet:2690"} ! constitutional neutropenia with extra-hematopoietic manifestations +is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0019589 {source="Orphanet:2690"} ! syndromic genetic deafness [Term] @@ -332675,7 +332713,7 @@ synonym: "Seghers syndrome" EXACT [Orphanet:2759] xref: GARD:0002989 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: Orphanet:2759 {source="MONDO:equivalentTo"} xref: UMLS:CN202584 {source="MONDO:equivalentTo"} -is_a: MONDO:0019711 {source="Orphanet:2759"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin [Term] id: MONDO:0017163 @@ -336829,11 +336867,10 @@ is_a: MONDO:0018235 {source="Orphanet:294955"} ! dysostosis with limb anomaly as [Term] id: MONDO:0017433 -name: dysostosis with combined reduction defects of upper and lower limbs +name: obsolete dysostosis with combined reduction defects of upper and lower limbs subset: ordo_group_of_disorders {source="Orphanet:294957"} -xref: Orphanet:294957 {source="MONDO:equivalentTo"} -is_a: MONDO:0015226 {source="Orphanet:294957"} ! syndrome with limb malformations as a major feature -is_a: MONDO:0018455 {source="Orphanet:294957"} ! dysostosis of genetic origin with limb anomaly as a major feature +xref: Orphanet:294957 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0017434 @@ -339052,7 +339089,7 @@ xref: UMLS:C0344490 {source="ORDO:3027/e", source="Orphanet:3027", source="MONDO xref: UMLS:C1838568 {source="MONDO:equivalentTo"} xref: UMLS:C1867774 {source="Orphanet:3027", source="MONDO:equivalentTo"} xref: UMLS:C2609260 {source="Orphanet:3027", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0017085 {source="Orphanet:3027"} ! malformation of the neurenteric canal, spinal cord and column +is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neural tube defect is_a: MONDO:0019721 {source="Orphanet:3027"} ! syndromic renal or urinary tract malformation property_value: confidence "0.12499999999999978" xsd:double @@ -339706,30 +339743,28 @@ property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 x [Term] id: MONDO:0017653 -name: epilepsy and/or ataxia with myoclonus as major feature +name: obsolete epilepsy and/or ataxia with myoclonus as major feature subset: ordo_group_of_disorders {source="Orphanet:306756"} -xref: Orphanet:306756 {source="MONDO:equivalentTo"} -is_a: MONDO:0017652 {source="Orphanet:306756"} ! rare disease with myoclonus as a major feature -is_a: MONDO:0017665 {source="Orphanet:306756"} ! rare genetic disease with myoclonus as a major feature +xref: Orphanet:306756 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0017654 -name: non progressive epilepsy and/or ataxia with myoclonus as a major feature +name: obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:306759"} -xref: Orphanet:306759 {source="MONDO:equivalentTo"} -is_a: MONDO:0017653 {source="Orphanet:306759"} ! epilepsy and/or ataxia with myoclonus as major feature +xref: Orphanet:306759 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI +is_obsolete: true [Term] id: MONDO:0017655 -name: progressive epilepsy and/or ataxia with myoclonus as a major feature +name: obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:306762"} -xref: Orphanet:306762 {source="MONDO:equivalentTo"} -is_a: MONDO:0017653 {source="Orphanet:306762"} ! epilepsy and/or ataxia with myoclonus as major feature -is_a: MONDO:0100036 {source="http://orcid.org/0000-0001-8486-0558"} ! variable age onset epilepsy +xref: Orphanet:306762 {source="MONDO:obsoleteEquivalent"} property_value: seeAlso https://github.com/monarch-initiative/mondo/projects/6 xsd:anyURI +is_obsolete: true [Term] id: MONDO:0017656 @@ -340578,8 +340613,8 @@ xref: MESH:D005733 {source="DOID:2368"} xref: Orphanet:309144 {source="MONDO:equivalentTo"} xref: SCTID:50967008 {source="MONDO:equivalentTo", source="DOID:2368"} xref: UMLS:C0017083 {source="MONDO:equivalentTo", source="Orphanet:309144", source="DOID:2368", source="ORDO:309144/e"} -is_a: MONDO:0018299 {source="Orphanet:309144"} ! sphingolipidosis with epilepsy -is_a: MONDO:0019255 {source="DOID:2368", source="Orphanet:309144", source="indirect"} ! sphingolipidosis +is_a: MONDO:0016397 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! lysosomal disease with epilepsy +is_a: MONDO:0019255 {source="DOID:2368", source="MONDO:0018299-obsoleted", source="Orphanet:309144", source="indirect"} ! sphingolipidosis [Term] id: MONDO:0017720 @@ -341440,7 +341475,7 @@ xref: UMLS:C0079154 {source="NCIT:C84805", source="MONDO:notFoundInDiseaseSubset is_a: MONDO:0005093 {source="Orphanet:313/inferred"} ! skin disease is_a: MONDO:0019269 {source="MESH:D017490/inferred", source="NCIT:C84805", source="Orphanet:313/inferred"} ! ichthyosis (disease) is_a: MONDO:0020162 {source="Orphanet:313"} ! secondary ectropion -is_a: MONDO:0020268 {source="Orphanet:313"} ! ichthyosis associated with ocular features +is_a: MONDO:0020267 {source="MONDO:0020268-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic keratinization disorder associated with ocular features relationship: has_modifier MONDO:0021136 {source="MONDO:0019043"} ! rare property_value: confidence "0.04999999999999982" xsd:double @@ -344511,7 +344546,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:3262"} synonym: "syngnathia-multiple anomalies syndrome" EXACT [Orphanet:3262] xref: GARD:0005092 {source="MONDO:equivalentTo"} xref: Orphanet:3262 {source="MONDO:equivalentTo"} -is_a: MONDO:0019710 {source="Orphanet:3262"} ! dysostosis with predominant craniofacial involvement +is_a: MONDO:0018454 {source="MONDO:0019710-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5092/syngnathia-multiple-anomalies xsd:anyURI {source="GARD:0005092"} [Term] @@ -344782,7 +344817,7 @@ xref: Orphanet:329252 {source="MONDO:equivalentTo"} xref: UMLS:CN204201 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:329252", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:329252"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0019711 {source="Orphanet:329252"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare [Term] @@ -345318,10 +345353,10 @@ is_a: MONDO:0045071 {source="NCIT:C35464"} ! mycosis fungoides variant [Term] id: MONDO:0018032 -name: constitutional neutropenia with extra-hematopoietic manifestations +name: obsolete constitutional neutropenia with extra-hematopoietic manifestations subset: ordo_group_of_disorders {source="Orphanet:331184"} -xref: Orphanet:331184 {source="MONDO:equivalentTo"} -is_a: MONDO:0015134 {source="Orphanet:331184"} ! constitutional neutropenia +xref: Orphanet:331184 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0018033 @@ -345393,10 +345428,10 @@ is_a: MONDO:0018035 {source="Orphanet:331223"} ! syndrome with combined immunode [Term] id: MONDO:0018038 -name: immunodeficiency with isotype or light chain deficiencies with normal number of B-cells +name: obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells subset: ordo_group_of_disorders {source="Orphanet:331232"} -xref: Orphanet:331232 {source="MONDO:equivalentTo"} -is_a: MONDO:0015132 {source="Orphanet:331232"} ! immunodeficiency predominantly affecting antibody production +xref: Orphanet:331232 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0018039 @@ -345415,7 +345450,7 @@ xref: ICD9:279.02 {source="MONDO:equivalentTo", source="i2s"} xref: Orphanet:331235 {source="MONDO:equivalentTo"} xref: SCTID:190980000 {source="MONDO:equivalentTo"} is_a: MONDO:0001342 {source="DOID:0050222"} ! dysgammaglobulinemia (disease) -is_a: MONDO:0018038 {source="Orphanet:331235"} ! immunodeficiency with isotype or light chain deficiencies with normal number of B-cells +is_a: MONDO:0015132 {source="MONDO:0018038-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! immunodeficiency predominantly affecting antibody production property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency xsd:anyURI {source="GARD:0012547"} [Term] @@ -345595,9 +345630,10 @@ xref: OMIM:610685 {source="ORDO:3329/btnt", source="MONDO:superClassOf", source= xref: OMIM:612576 {source="ORDO:3329/btnt", source="MONDO:superClassOf", source="Orphanet:3329"} xref: Orphanet:3329 {source="MONDO:equivalentTo", source="GARD:0001369"} xref: UMLS:C1861553 {source="GARD:0001369", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:3329"} +is_a: MONDO:0015226 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with limb malformations as a major feature is_a: MONDO:0015335 {source="Orphanet:3329"} ! orofacial clefting syndrome is_a: MONDO:0017432 {source="Orphanet:3329"} ! syndrome with limb reduction defects -is_a: MONDO:0017433 {source="Orphanet:3329"} ! dysostosis with combined reduction defects of upper and lower limbs +is_a: MONDO:0018455 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin with limb anomaly as a major feature property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1369/cleft-hand-absent-tibia xsd:anyURI {source="GARD:0001369"} [Term] @@ -345632,7 +345668,8 @@ xref: Orphanet:3332 {source="MONDO:equivalentTo"} xref: SCTID:716741008 {source="MONDO:equivalentTo"} xref: UMLS:CN204341 {source="MONDO:equivalentTo"} is_a: MONDO:0008572 ! tibia, hypoplasia or aplasia of, with polydactyly -is_a: MONDO:0017433 {source="Orphanet:3332"} ! dysostosis with combined reduction defects of upper and lower limbs +is_a: MONDO:0015226 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with limb malformations as a major feature +is_a: MONDO:0018455 {source="MONDO:0017433-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin with limb anomaly as a major feature property_value: confidence "2.657407407407407" xsd:double [Term] @@ -345907,7 +345944,7 @@ xref: UMLS:C0265535 {source="Orphanet:3366", source="MONDO:notFoundInDiseaseSubs xref: UMLS:CN236409 {source="MONDO:equivalentTo"} xref: UMLS:CN239481 {source="MONDO:equivalentTo"} is_a: MONDO:0015337 {source="Orphanet:3366"} ! isolated craniosynostosis -is_a: MONDO:0020254 {source="Orphanet:3366"} ! craniostenosis associated with a strabismus +is_a: MONDO:0020253 {source="MONDO:0020254-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with a symptomatic strabismus intersection_of: MONDO:0000156 ! trigonocephaly intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation @@ -346971,7 +347008,7 @@ xref: OMIM:615529 {source="Orphanet:35093", source="MONDO:superClassOf", source= xref: Orphanet:35093 {source="MONDO:equivalentTo"} xref: UMLS:C0265534 {source="Orphanet:35093", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0015337 {source="Orphanet:35093"} ! isolated craniosynostosis -is_a: MONDO:0020254 {source="Orphanet:35093"} ! craniostenosis associated with a strabismus +is_a: MONDO:0020253 {source="MONDO:0020254-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with a symptomatic strabismus property_value: confidence "3.2857142857142865" xsd:double [Term] @@ -346987,7 +347024,7 @@ xref: OMIM:615314 {source="ORDO:35098/btnt", source="MONDO:superClassOf", source xref: OMIM:616602 {source="ORDO:35098/btnt", source="MONDO:superClassOf", source="Orphanet:35098"} xref: Orphanet:35098 {source="MONDO:equivalentTo"} is_a: MONDO:0015337 {source="Orphanet:35098"} ! isolated craniosynostosis -is_a: MONDO:0020254 {source="Orphanet:35098"} ! craniostenosis associated with a strabismus +is_a: MONDO:0020253 {source="MONDO:0020254-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with a symptomatic strabismus [Term] id: MONDO:0018114 @@ -347002,7 +347039,7 @@ xref: OMIM:616602 {source="ORDO:35099/btnt", source="MONDO:superClassOf", source xref: Orphanet:35099 {source="MONDO:equivalentTo"} xref: UMLS:C0221356 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:35099"} is_a: MONDO:0015337 {source="Orphanet:35099"} ! isolated craniosynostosis -is_a: MONDO:0020254 {source="Orphanet:35099"} ! craniostenosis associated with a strabismus +is_a: MONDO:0020253 {source="MONDO:0020254-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with a symptomatic strabismus [Term] id: MONDO:0018115 @@ -347018,7 +347055,6 @@ xref: Orphanet:35125 {source="MONDO:equivalentTo"} xref: SCTID:239112008 {source="MONDO:equivalentTo"} xref: UMLS:C0334082 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:35125/e", source="Orphanet:35125"} is_a: MONDO:0005073 {source="Orphanet:35125"} ! melanocytic nevus -is_a: MONDO:0020269 {source="Orphanet:35125"} ! syndromic ichthyosis associated with ocular features relationship: has_modifier MONDO:0021136 {source="MONDO:0017414"} ! rare [Term] @@ -347506,11 +347542,11 @@ xref: UMLS:C0085131 {source="DOID:3322", source="MONDO:equivalentTo", source="NC xref: UMLS:C0268271 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:354"} xref: UMLS:C2718068 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:354"} is_a: MONDO:0002561 {source="DOID:3322/inferred", source="MESH:D016537/inferred", source="MONDO:Redundant", source="NCIT:C84739", source="Orphanet:354/inferred", source="PMID:21723623", source="indirect"} ! lysosomal storage disease +is_a: MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease is_a: MONDO:0017719 {source="DOID:3322", source="Orphanet:354"} ! gangliosidosis is_a: MONDO:0019058 {source="Orphanet:354"} ! neurometabolic disease is_a: MONDO:0019706 {source="Orphanet:354"} ! lysosomal storage disease with skeletal involvement is_a: MONDO:0020244 {source="Orphanet:354"} ! unclassified primitive or secondary maculopathy -is_a: MONDO:0020262 {source="Orphanet:354"} ! nervous system anomaly with eye involvement is_a: MONDO:0020282 {source="Orphanet:354"} ! metabolic disease with macular cherry-red spot relationship: disease_has_basis_in_disruption_of GO:0004565 {source="PMID:21723623"} ! beta-galactosidase activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4298 {source="PMID:29884839"} ! GLB1 @@ -348347,7 +348383,8 @@ synonym: "AIEF" EXACT ABBREVIATION [Orphanet:363549] xref: ICD10:G40.4 {source="ORDO:363549/ntbt", source="Orphanet:363549"} xref: Orphanet:363549 {source="MONDO:equivalentTo"} xref: SCTID:766044005 {source="MONDO:equivalentTo"} -is_a: MONDO:0018200 {source="Orphanet:363549"} ! acute encephalopathy with inflammation-mediated status epilepticus +is_a: MONDO:0015657 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! inflammatory and autoimmune disease with epilepsy +is_a: MONDO:0020072 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! childhood-onset epilepsy syndrome [Term] id: MONDO:0018199 @@ -348360,16 +348397,16 @@ synonym: "Norse" EXACT [Orphanet:363558] xref: GARD:0012244 {source="MONDO:equivalentTo", source="Orphanet-shared"} xref: ICD10:G41.8 {source="ORDO:363558/ntbt", source="Orphanet:363558"} xref: Orphanet:363558 {source="MONDO:equivalentTo"} -is_a: MONDO:0018200 {source="Orphanet:363558"} ! acute encephalopathy with inflammation-mediated status epilepticus +is_a: MONDO:0015657 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! inflammatory and autoimmune disease with epilepsy +is_a: MONDO:0020072 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! childhood-onset epilepsy syndrome is_a: MONDO:0020073 {source="Orphanet:363558"} ! adolescent-onset epilepsy syndrome [Term] id: MONDO:0018200 -name: acute encephalopathy with inflammation-mediated status epilepticus +name: obsolete acute encephalopathy with inflammation-mediated status epilepticus subset: ordo_group_of_disorders {source="Orphanet:363567"} -xref: Orphanet:363567 {source="MONDO:equivalentTo"} -is_a: MONDO:0015657 {source="Orphanet:363567"} ! inflammatory and autoimmune disease with epilepsy -is_a: MONDO:0020072 {source="Orphanet:363567"} ! childhood-onset epilepsy syndrome +xref: Orphanet:363567 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0018201 @@ -349792,11 +349829,10 @@ is_a: MONDO:0019707 {source="Orphanet:371428"} ! primary osteolysis [Term] id: MONDO:0018299 -name: sphingolipidosis with epilepsy +name: obsolete sphingolipidosis with epilepsy subset: ordo_group_of_disorders {source="Orphanet:371442"} -xref: Orphanet:371442 {source="MONDO:equivalentTo"} -is_a: MONDO:0016397 {source="Orphanet:371442"} ! lysosomal disease with epilepsy -is_a: MONDO:0019255 ! sphingolipidosis +xref: Orphanet:371442 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0018300 @@ -353809,10 +353845,10 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015906", source="MONDO: [Term] id: MONDO:0018545 -name: primary immunodeficiency with predisposition to severe viral infection +name: obsolete primary immunodeficiency with predisposition to severe viral infection subset: ordo_group_of_disorders {source="Orphanet:431156"} -xref: Orphanet:431156 {source="MONDO:equivalentTo"} -is_a: MONDO:0015135 {source="Orphanet:431156"} ! primary immunodeficiency due to a genetic defect in innate immunity +xref: Orphanet:431156 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0018546 @@ -355885,7 +355921,7 @@ xref: Orphanet:453499 {source="MONDO:equivalentTo"} xref: UMLS:CN237747 {source="MONDO:equivalentTo"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:453499", source="indirect"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:453499"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0019711 {source="Orphanet:453499"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin relationship: has_modifier MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare [Term] @@ -356179,22 +356215,17 @@ intersection_of: has_modifier MONDO:0021152 ! inherited [Term] id: MONDO:0018699 -name: pseudohypoparathyroidism with Albright hereditary osteodystrophy +name: obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy subset: ordo_group_of_disorders {source="Orphanet:457059"} -xref: Orphanet:457059 {source="MONDO:equivalentTo"} -is_a: MONDO:0016565 {source="Orphanet:457059"} ! syndromic genetic obesity -is_a: MONDO:0018798 {source="Orphanet:457059"} ! other genetic dermis disorder -is_a: MONDO:0019695 {source="Orphanet:457059"} ! acromelic dysplasia -is_a: MONDO:0019992 {source="Orphanet:457059"} ! pseudohypoparathyroidism -is_a: MONDO:0020232 {source="Orphanet:457059"} ! musculoskeletal disease with cataract -is_a: MONDO:0021154 {source="Orphanet:457059"} ! dermis disease +xref: Orphanet:457059 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0018700 -name: pseudohypoparathyroidism without Albright hereditary osteodystrophy +name: obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy subset: ordo_group_of_disorders {source="Orphanet:457062"} -xref: Orphanet:457062 {source="MONDO:equivalentTo"} -is_a: MONDO:0019992 {source="Orphanet:457062"} ! pseudohypoparathyroidism +xref: Orphanet:457062 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0018701 @@ -356451,10 +356482,10 @@ property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/254 x [Term] id: MONDO:0018722 -name: primary lymphedema with associated anomalies +name: obsolete primary lymphedema with associated anomalies subset: ordo_group_of_disorders {source="Orphanet:458841"} -xref: Orphanet:458841 {source="MONDO:equivalentTo"} -is_a: MONDO:0019175 {source="MONDOLEX:0018722", source="Orphanet:458841"} ! primary lymphedema +xref: Orphanet:458841 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0018723 @@ -357298,7 +357329,6 @@ is_a: MONDO:0017274 {source="Orphanet:477"} ! autosomal ichthyosis syndrome with is_a: MONDO:0017669 {source="Orphanet:477/inferred"} ! disease with diffuse palmoplantar keratoderma as a major feature is_a: MONDO:0019287 {source="Orphanet:477", source="linkedlifedata"} ! ectodermal dysplasia syndrome is_a: MONDO:0019589 {source="Orphanet:477"} ! syndromic genetic deafness -is_a: MONDO:0020269 {source="Orphanet:477"} ! syndromic ichthyosis associated with ocular features [Term] id: MONDO:0018782 @@ -358625,10 +358655,10 @@ xref: UMLS:C0023522 {source="Orphanet:512", source="MONDO:equivalentTo", source= xref: UMLS:C2713319 {source="Orphanet:512", source="MONDO:notFoundInDiseaseSubset", source="ORDO:512/e"} is_a: MONDO:0002561 {source="DOID:10581/inferred", source="MESH:D007966/inferred", source="MONDO:Redundant", source="NCIT:C61251", source="Orphanet:512/inferred", source="linkedlifedata"} ! lysosomal storage disease is_a: MONDO:0016133 {source="Orphanet:512"} ! rare hereditary metabolic disease with peripheral neuropathy -is_a: MONDO:0018299 {source="Orphanet:512"} ! sphingolipidosis with epilepsy +is_a: MONDO:0016397 {source="MONDO:0018299-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! lysosomal disease with epilepsy is_a: MONDO:0019046 {source="NCIT:C61251", source="Orphanet:512", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy is_a: MONDO:0019058 {source="Orphanet:512"} ! neurometabolic disease -is_a: MONDO:0019255 {source="DOID:10581", source="MESH:D007966/inferred", source="NCIT:C61251", source="Orphanet:512", source="indirect"} ! sphingolipidosis +is_a: MONDO:0019255 {source="DOID:10581", source="MESH:D007966/inferred", source="MONDO:0018299-obsoleted", source="NCIT:C61251", source="Orphanet:512", source="indirect"} ! sphingolipidosis is_a: MONDO:0020142 {source="Orphanet:512"} ! metabolic disease with dementia is_a: MONDO:0020244 {source="Orphanet:512"} ! unclassified primitive or secondary maculopathy @@ -360815,7 +360845,7 @@ xref: Orphanet:60015 {source="DOID:0060285", source="MONDO:equivalentTo"} xref: SCTID:718099006 {source="MONDO:equivalentTo"} xref: UMLS:C1868598 {source="DOID:0060285", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:60015"} is_a: MONDO:0018075 {source="DOID:0060285", source="MESH:C566826/inferred"} ! neural tube defect -is_a: MONDO:0019709 {source="Orphanet:60015"} ! cleidocranial dysplasia and isolated cranial ossification defect +is_a: MONDO:0018230 {source="MONDO:0019709-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary bone dysplasia is_a: MONDO:0020018 {source="Orphanet:60015"} ! cranial malformation [Term] @@ -361209,7 +361239,7 @@ xref: Orphanet:63440 {source="MONDO:equivalentTo"} xref: SCTID:48069004 {source="MONDO:equivalentTo"} xref: UMLS:C0030044 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:63440"} is_a: MONDO:0015337 {source="Orphanet:63440"} ! isolated craniosynostosis -is_a: MONDO:0020254 {source="Orphanet:63440"} ! craniostenosis associated with a strabismus +is_a: MONDO:0020253 {source="MONDO:0020254-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! syndrome with a symptomatic strabismus [Term] id: MONDO:0018972 @@ -361287,10 +361317,11 @@ xref: UMLS:C0027831 {source="DOID:8712", source="NCIT:C3273", source="ORDO:636/e is_a: MONDO:0015512 {source="Orphanet:636"} ! genetic hypertension is_a: MONDO:0015651 {source="Orphanet:636"} ! neurocutaneous syndrome with epilepsy is_a: MONDO:0020063 {source="Orphanet:636"} ! malformation syndrome with hamartosis -is_a: MONDO:0020271 {source="Orphanet:636"} ! phakomatosis with eye involvement +is_a: MONDO:0020266 {source="MONDO:0020271-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genodermatosis with ocular features is_a: MONDO:0021060 {source="MONDO:cjm", source="https://en.wikipedia.org/wiki/RASopathy"} ! RASopathy is_a: MONDO:0021061 {source="MESH:D009456", source="NCIT:C3273", source="linkedlifedata"} ! neurofibromatosis is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy +is_a: MONDO:0042983 {source="MONDO:0020271-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neurocutaneous syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7765 {source="mim2gene_medgen"} ! NF1 relationship: disease_has_feature MONDO:0019289 {source="Orphanet:636"} ! hyperpigmentation of the skin relationship: excluded_subClassOf MONDO:0018792 {source="Orphanet:636"} ! obsolete Moyamoya syndrome @@ -361405,7 +361436,7 @@ xref: UMLS:C0220756 {source="ORDO:646/e", source="Orphanet:646", source="MONDO:n is_a: MONDO:0001982 {source="MESH:D052556", source="MONDO:cjm", source="Orphanet:646", source="linkedlifedata"} ! Niemann-Pick disease relationship: excluded_subClassOf MONDO:0002561 {source="MESH:D052556/inferred", source="Orphanet:646/inferred", source="PMID:21723623", source="indirect", source="linkedlifedata/inferred"} ! lysosomal storage disease relationship: excluded_subClassOf MONDO:0017037 {source="Orphanet:646"} ! secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease -relationship: excluded_subClassOf MONDO:0018299 {source="Orphanet:646"} ! sphingolipidosis with epilepsy +relationship: excluded_subClassOf MONDO:0018299 {source="Orphanet:646"} ! obsolete sphingolipidosis with epilepsy relationship: excluded_subClassOf MONDO:0019058 {source="Orphanet:646"} ! neurometabolic disease relationship: excluded_subClassOf MONDO:0019245 {source="MESH:D052556/inferred", source="Orphanet:646", source="PMID:21502308", source="indirect", source="linkedlifedata/inferred"} ! lysosomal lipid storage disorder relationship: excluded_subClassOf MONDO:0020143 {source="Orphanet:646"} ! cerebral lipidosis with dementia @@ -361520,7 +361551,7 @@ xref: UMLS:CN205427 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0018988", source="NCIT:C84792"} ! syndromic disease relationship: disease_has_feature MONDO:0005041 {source="GARD:0000060-text", source="MONDO:cjm", source="Orphanet-text"} ! glaucoma (disease) relationship: excluded_subClassOf MONDO:0015120 {source="Orphanet:64734"} ! obsolete rare acquired eye disease -relationship: excluded_subClassOf MONDO:0020221 {source="Orphanet:64734"} ! secondary glaucoma due to a proliferation and differentiation anomaly +relationship: excluded_subClassOf MONDO:0020221 {source="Orphanet:64734"} ! obsolete secondary glaucoma due to a proliferation and differentiation anomaly [Term] id: MONDO:0018989 @@ -361714,7 +361745,7 @@ is_a: MONDO:0015160 {source="Orphanet:648", source="indirect"} ! multiple congen is_a: MONDO:0015218 {source="Orphanet:648"} ! syndromic developmental defect of the eye is_a: MONDO:0015945 {source="Orphanet:648"} ! polymalformative genetic syndrome with increased risk of developing cancer is_a: MONDO:0016329 {source="Orphanet:648", source="Orphanet:648/inferred"} ! familial syndrome associated with hypertrophic cardiomyopathy -is_a: MONDO:0018722 {source="Orphanet:648"} ! primary lymphedema with associated anomalies +is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0019520 {source="MONDO:Redundant", source="Orphanet:648"} ! syndromic lymphedema is_a: MONDO:0019721 {source="Orphanet:648"} ! syndromic renal or urinary tract malformation is_a: MONDO:0020167 {source="Orphanet:648"} ! malposition of external canthus @@ -364406,7 +364437,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:73245"} xref: ICD10:G12.8 {source="Orphanet:73245", source="ORDO:73245/attributed", source="ORDO:73245/ntbt"} xref: Orphanet:73245 {source="MONDO:equivalentTo"} xref: UMLS:CN205656 {source="MONDO:equivalentTo"} -is_a: MONDO:0016131 {source="Orphanet:73245"} ! spinal muscular atrophy associated with central nervous system anomaly +is_a: MONDO:0016113 {source="MONDO:0016131-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! bulbospinal muscular atrophy is_a: MONDO:0017121 {source="Orphanet:73245"} ! syndrome with a Dandy-Walker malformation as major feature [Term] @@ -366981,7 +367012,7 @@ name: metabolic disease involving other neurotransmitter deficiency subset: ordo_group_of_disorders {source="Orphanet:79219"} xref: Orphanet:79219 {source="MONDO:equivalentTo"} xref: UMLS:CN205839 {source="MONDO:equivalentTo"} -is_a: MONDO:0016404 {source="Orphanet:79219"} ! metabolic neurotransmission anomaly with epilepsy +is_a: MONDO:0015656 {source="MONDO:0016404-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! metabolic disease with epilepsy is_a: MONDO:0019250 {source="Orphanet:79219"} ! inborn disorder of biogenic amine metabolism and transport [Term] @@ -370080,7 +370111,7 @@ xref: Orphanet:85200 {source="MONDO:equivalentTo"} xref: SCTID:715654001 {source="MONDO:equivalentTo"} xref: UMLS:C4274732 {source="MONDO:equivalentTo"} xref: UMLS:CN206143 {source="MONDO:equivalentTo"} -is_a: MONDO:0019711 {source="Orphanet:85200"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin [Term] id: MONDO:0019414 @@ -371473,8 +371504,9 @@ xref: ICD10:G40.4 {source="ORDO:86908/ntbt", source="Orphanet:86908"} xref: Orphanet:86908 {source="MONDO:equivalentTo"} xref: SCTID:230407006 {source="MONDO:equivalentTo"} xref: UMLS:C0549118 {source="MONDO:notFoundInDiseaseSubset", source="ORDO:86908/e", source="Orphanet:86908"} -is_a: MONDO:0018200 {source="Orphanet:86908"} ! acute encephalopathy with inflammation-mediated status epilepticus +is_a: MONDO:0015657 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! inflammatory and autoimmune disease with epilepsy is_a: MONDO:0020071 {source="Orphanet:86908"} ! infantile epilepsy syndrome +is_a: MONDO:0020072 {source="MONDO:0018200-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! childhood-onset epilepsy syndrome [Term] id: MONDO:0019486 @@ -371497,7 +371529,8 @@ xref: ICD10:G40.4 {source="ORDO:86911/ntbt", source="Orphanet:86911"} xref: Orphanet:86911 {source="MONDO:equivalentTo"} xref: SCTID:230422001 {source="MONDO:equivalentTo"} xref: UMLS:C0393703 {source="Orphanet:86911", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0017654 {source="Orphanet:86911"} ! non progressive epilepsy and/or ataxia with myoclonus as a major feature +is_a: MONDO:0017652 {source="MONDO:0017654-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare disease with myoclonus as a major feature +is_a: MONDO:0017665 {source="MONDO:0017654-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare genetic disease with myoclonus as a major feature is_a: MONDO:0020072 {source="Orphanet:86911", source="http://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome [Term] @@ -371765,7 +371798,7 @@ xref: UMLS:C1527168 {source="MONDO:notFoundInDiseaseSubset", source="DOID:3491"} is_a: MONDO:0001967 {source="DOID:3491", source="MESH:D014424", source="NCIT:C26900"} ! gonadal dysgenesis is_a: MONDO:0015218 {source="Orphanet:881"} ! syndromic developmental defect of the eye is_a: MONDO:0015620 {source="Orphanet:881"} ! syndromic urogenital tract malformation -is_a: MONDO:0017000 {source="Orphanet:881"} ! X chromosome number anomaly with female phenotype +is_a: MONDO:0016999 {source="MONDO:0017000-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! X chromosome number anomaly is_a: MONDO:0017975 {source="MESH:D014424", source="Orphanet:881"} ! sex chromosome disorder of sex development is_a: MONDO:0018402 {source="Orphanet:881"} ! female infertility due to gonadal dysgenesis is_a: MONDO:0019721 {source="Orphanet:881"} ! syndromic renal or urinary tract malformation @@ -373654,8 +373687,9 @@ xref: SCTID:267481002 {source="DOID:9410"} xref: SCTID:32390006 {source="MONDO:equivalentTo", source="DOID:9410"} xref: UMLS:C0242343 {source="ORDO:90695/e", source="MONDO:equivalentTo", source="Orphanet:90695", source="DOID:9410", source="NCIT:C110940"} is_a: MONDO:0005152 {source="DOID:9410", source="MONDO:Redundant", source="NCIT:C110940", source="linkedlifedata"} ! hypopituitarism +is_a: MONDO:0015770 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0015789 {source="MONDO:Redundant", source="Orphanet:90695", source="indirect"} ! non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations -is_a: MONDO:0015891 {source="MONDO:Redundant", source="Orphanet:90695", source="indirect"} ! hypogonadotropic hypogonadism associated with other endocrinopathies +is_a: MONDO:0018398 {source="MONDO:0015891-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! female infertility due to a congenital hypogonadotropic hypogonadism [Term] id: MONDO:0019592 @@ -373922,7 +373956,7 @@ is_a: MONDO:0015327 {source="Orphanet:912"} ! developmental anomaly of metabolic is_a: MONDO:0016398 {source="Orphanet:912"} ! peroxisomal disease with epilepsy is_a: MONDO:0019234 {source="MONDOLEX:0019609", source="NCIT:C85239", source="Orphanet:912"} ! peroxisome biogenesis disorder is_a: MONDO:0019743 {source="Orphanet:912"} ! nephropathy secondary to a storage or other metabolic disease -is_a: MONDO:0020234 {source="Orphanet:912"} ! craniofacial anomaly with cataract +is_a: MONDO:0020227 {source="MONDO:0020234-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! systemic disease with cataract is_a: MONDO:0020244 {source="Orphanet:912"} ! unclassified primitive or secondary maculopathy is_a: MONDO:0020280 {source="Orphanet:912"} ! metabolic disease with cataract is_a: MONDO:0020281 {source="Orphanet:912"} ! metabolic disease with pigmentary retinitis @@ -375466,24 +375500,24 @@ is_a: MONDO:0018230 {source="Orphanet:93450"} ! primary bone dysplasia [Term] id: MONDO:0019709 -name: cleidocranial dysplasia and isolated cranial ossification defect +name: obsolete cleidocranial dysplasia and isolated cranial ossification defect subset: ordo_group_of_disorders {source="Orphanet:93451"} -xref: Orphanet:93451 {source="MONDO:equivalentTo"} -is_a: MONDO:0018230 {source="Orphanet:93451"} ! primary bone dysplasia +xref: Orphanet:93451 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0019710 -name: dysostosis with predominant craniofacial involvement +name: obsolete dysostosis with predominant craniofacial involvement subset: ordo_group_of_disorders {source="Orphanet:93453"} -xref: Orphanet:93453 {source="MONDO:equivalentTo"} -is_a: MONDO:0018454 {source="Orphanet:93453"} ! dysostosis of genetic origin +xref: Orphanet:93453 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0019711 -name: dysostosis with predominant vertebral and costal involvement +name: obsolete dysostosis with predominant vertebral and costal involvement subset: ordo_group_of_disorders {source="Orphanet:93454"} -xref: Orphanet:93454 {source="MONDO:equivalentTo"} -is_a: MONDO:0018454 {source="Orphanet:93454"} ! dysostosis of genetic origin +xref: Orphanet:93454 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0019712 @@ -376537,7 +376571,8 @@ xref: OMIM:600674 {source="MONDO:subClassOf", source="ORDO:93976/ntbt", source=" xref: Orphanet:93976 {source="MONDO:equivalentTo"} xref: SCTID:57436000 {source="MONDO:equivalentTo"} xref: UMLS:C0702139 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:93976"} -is_a: MONDO:0015502 {source="Orphanet:93976"} ! pinnae and external auditory canal anomaly +is_a: MONDO:0018562 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic otorhinolaryngological malformation +is_a: MONDO:0019936 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare otorhinolaryngological malformation property_value: confidence "0.0038461538461538325" xsd:double [Term] @@ -378650,7 +378685,7 @@ xref: UMLS:C0265498 {source="MONDO:equivalentTo", source="ORDO:96263/e", source= is_a: MONDO:0000508 ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C89799", source="indirect"} ! syndromic disease is_a: MONDO:0015620 {source="Orphanet:96263"} ! syndromic urogenital tract malformation -is_a: MONDO:0017001 {source="Orphanet:96263"} ! X chromosome number anomaly with male phenotype +is_a: MONDO:0016999 {source="MONDO:0017001-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! X chromosome number anomaly is_a: MONDO:0017975 {source="Orphanet:96263"} ! sex chromosome disorder of sex development is_a: MONDO:0020090 {source="Orphanet:96263"} ! male infertility due to gonadal dysgenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -378673,7 +378708,7 @@ xref: SCTID:38847009 {source="MONDO:equivalentTo"} xref: UMLS:C0265499 {source="MONDO:equivalentTo", source="Orphanet:96264"} is_a: MONDO:0000508 ! syndromic intellectual disability is_a: MONDO:0015620 {source="Orphanet:96264"} ! syndromic urogenital tract malformation -is_a: MONDO:0017001 {source="Orphanet:96264"} ! X chromosome number anomaly with male phenotype +is_a: MONDO:0016999 {source="MONDO:0017001-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! X chromosome number anomaly is_a: MONDO:0017975 {source="Orphanet:96264"} ! sex chromosome disorder of sex development is_a: MONDO:0020090 {source="Orphanet:96264"} ! male infertility due to gonadal dysgenesis relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -379640,11 +379675,10 @@ is_a: MONDO:0019401 {source="Orphanet:97555"} ! sporadic idiopathic steroid-resi [Term] id: MONDO:0019987 -name: congenital and infantile nephrotic syndrome +name: obsolete congenital and infantile nephrotic syndrome subset: ordo_group_of_disorders {source="Orphanet:97556"} -xref: Orphanet:97556 {source="MONDO:equivalentTo"} -is_a: MONDO:0005377 {source="MONDO:cjm", source="MONDOLEX:0019987"} ! nephrotic syndrome -is_a: MONDO:0015163 {source="Orphanet:97556"} ! primary glomerular disease +xref: Orphanet:97556 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0019988 @@ -381733,17 +381767,17 @@ relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:98538"} [Term] id: MONDO:0020139 -name: early-onset ataxia with dementia +name: obsolete early-onset ataxia with dementia subset: ordo_group_of_disorders {source="Orphanet:98539"} -xref: Orphanet:98539 {source="MONDO:equivalentTo"} -is_a: MONDO:0020138 {source="Orphanet:98539"} ! ataxia with dementia +xref: Orphanet:98539 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0020140 -name: late-onset ataxia with dementia +name: obsolete late-onset ataxia with dementia subset: ordo_group_of_disorders {source="Orphanet:98540"} -xref: Orphanet:98540 {source="MONDO:equivalentTo"} -is_a: MONDO:0020138 {source="Orphanet:98540"} ! ataxia with dementia +xref: Orphanet:98540 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0020141 @@ -382629,10 +382663,10 @@ is_a: MONDO:0020217 {source="Orphanet:98636"} ! secondary dysgenetic glaucoma as [Term] id: MONDO:0020221 -name: secondary glaucoma due to a proliferation and differentiation anomaly +name: obsolete secondary glaucoma due to a proliferation and differentiation anomaly subset: ordo_group_of_disorders {source="Orphanet:98637"} -xref: Orphanet:98637 {source="MONDO:equivalentTo"} -is_a: MONDO:0020216 {source="Orphanet:98637"} ! secondary dysgenetic glaucoma +xref: Orphanet:98637 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0020222 @@ -382760,10 +382794,10 @@ is_a: MONDO:0020227 {source="Orphanet:98649"} ! systemic disease with cataract [Term] id: MONDO:0020234 -name: craniofacial anomaly with cataract +name: obsolete craniofacial anomaly with cataract subset: ordo_group_of_disorders {source="Orphanet:98650"} -xref: Orphanet:98650 {source="MONDO:equivalentTo"} -is_a: MONDO:0020227 {source="Orphanet:98650"} ! systemic disease with cataract +xref: Orphanet:98650 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0020235 @@ -382853,10 +382887,10 @@ intersection_of: disease_has_major_feature HP:0007754 ! Macular dystrophy [Term] id: MONDO:0020243 -name: colobomatous and areolar dystrophy +name: obsolete colobomatous and areolar dystrophy subset: ordo_group_of_disorders {source="Orphanet:98665"} -xref: Orphanet:98665 {source="MONDO:equivalentTo"} -is_a: MONDO:0020242 {source="Orphanet:98665"} ! genetic macular dystrophy +xref: Orphanet:98665 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0020244 @@ -382974,10 +383008,10 @@ relationship: disease_has_feature HP:0000486 ! Strabismus [Term] id: MONDO:0020254 -name: craniostenosis associated with a strabismus +name: obsolete craniostenosis associated with a strabismus subset: ordo_group_of_disorders {source="Orphanet:98684"} -xref: Orphanet:98684 {source="MONDO:equivalentTo"} -is_a: MONDO:0020253 {source="Orphanet:98684"} ! syndrome with a symptomatic strabismus +xref: Orphanet:98684 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0020255 @@ -383048,24 +383082,24 @@ is_obsolete: true [Term] id: MONDO:0020262 -name: nervous system anomaly with eye involvement +name: obsolete nervous system anomaly with eye involvement subset: ordo_group_of_disorders {source="Orphanet:98692"} -xref: Orphanet:98692 {source="MONDO:equivalentTo"} -is_a: MONDO:0015368 {source="Orphanet:98692"} ! neuro-ophthalmological disease +xref: Orphanet:98692 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0020263 -name: spinocerebellar ataxia with oculomotor anomaly +name: obsolete spinocerebellar ataxia with oculomotor anomaly subset: ordo_group_of_disorders {source="Orphanet:98693"} -xref: Orphanet:98693 {source="MONDO:equivalentTo"} -is_a: MONDO:0020262 {source="Orphanet:98693"} ! nervous system anomaly with eye involvement +xref: Orphanet:98693 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0020264 -name: spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly +name: obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly subset: ordo_group_of_disorders {source="Orphanet:98694"} -xref: Orphanet:98694 {source="MONDO:equivalentTo"} -is_a: MONDO:0020262 {source="Orphanet:98694"} ! nervous system anomaly with eye involvement +xref: Orphanet:98694 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0020265 @@ -383093,23 +383127,23 @@ is_a: MONDO:0020266 {source="Orphanet:98697"} ! genodermatosis with ocular featu [Term] id: MONDO:0020268 -name: ichthyosis associated with ocular features +name: obsolete ichthyosis associated with ocular features subset: ordo_group_of_disorders {source="Orphanet:98698"} -xref: Orphanet:98698 {source="MONDO:equivalentTo"} -is_a: MONDO:0020267 {source="Orphanet:98698"} ! genetic keratinization disorder associated with ocular features +xref: Orphanet:98698 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0020269 -name: syndromic ichthyosis associated with ocular features +name: obsolete syndromic ichthyosis associated with ocular features def: "A ichthyosis associated with ocular features that is part of a larger syndrome." [MONDO:patterns/syndromic] -subset: ordo_group_of_disorders {source="Orphanet:98699"} +comment: This grouping class is no longer needed. synonym: "syndrome associated with ichthyosis associated with ocular features" EXACT [MONDO:patterns/syndromic] synonym: "syndrome associated with ichthyosis associated with ocular features" RELATED [MONDO:patterns/syndromic] synonym: "syndromic ichthyosis associated with ocular features" EXACT [MONDO:patterns/syndromic] -xref: Orphanet:98699 {source="MONDO:equivalentTo"} -xref: UMLS:CN227843 {source="MONDO:equivalentTo"} -intersection_of: MONDO:0020268 ! ichthyosis associated with ocular features -intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation +xref: Orphanet:98699 {source="MONDO:obsoleteEquivalent"} +xref: UMLS:CN227843 {source="MONDO:obsoleteEquivalent"} +property_value: seeAlso https://github.com/monarch-initiative/mondo/pull/2571 xsd:string +is_obsolete: true [Term] id: MONDO:0020270 @@ -383121,11 +383155,10 @@ is_a: MONDO:0020266 {source="Orphanet:98700"} ! genodermatosis with ocular featu [Term] id: MONDO:0020271 -name: phakomatosis with eye involvement +name: obsolete phakomatosis with eye involvement subset: ordo_group_of_disorders {source="Orphanet:98701"} -xref: Orphanet:98701 {source="MONDO:equivalentTo"} -is_a: MONDO:0020266 {source="Orphanet:98701"} ! genodermatosis with ocular features -is_a: MONDO:0042983 {source="MONDO:cjm"} ! neurocutaneous syndrome +xref: Orphanet:98701 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0020272 @@ -384530,7 +384563,7 @@ xref: UMLS:C0339284 {source="Orphanet:98973", source="MONDO:notFoundInDiseaseSub xref: UMLS:CN239252 {source="MONDO:equivalentTo"} is_a: MONDO:0000766 {source="DOID:0060457"} ! corneal endothelial dystrophy is_a: MONDO:0020214 {source="MONDOLEX:0020364", source="Orphanet:98973"} ! posterior corneal dystrophy -is_a: MONDO:0020221 {source="Orphanet:98973"} ! secondary glaucoma due to a proliferation and differentiation anomaly +is_a: MONDO:0020216 {source="MONDO:0020221-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! secondary dysgenetic glaucoma [Term] id: MONDO:0020365 @@ -384828,8 +384861,8 @@ xref: UMLS:C0087012 {source="DOID:1441"} xref: UMLS:CN227858 {source="MONDO:equivalentTo"} is_a: MONDO:0000437 {source="MONDO:Entailed", source="MONDO:cjm", source="Orphanet:99/inferred", source="linkedlifedata"} ! cerebellar ataxia is_a: MONDO:0000557 {source="DOID:1441", source="Orphanet:99"} ! hereditary ataxia -is_a: MONDO:0020140 {source="Orphanet:99"} ! late-onset ataxia with dementia -is_a: MONDO:0020263 {source="Orphanet:99"} ! spinocerebellar ataxia with oculomotor anomaly +is_a: MONDO:0015368 {source="MONDO:0020263-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! neuro-ophthalmological disease +is_a: MONDO:0020138 {source="MONDO:0020140-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! ataxia with dementia is_a: MONDO:0022687 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebellar degeneration intersection_of: MONDO:0000437 ! cerebellar ataxia intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance @@ -386554,7 +386587,7 @@ xref: UMLS:C0039144 {source="MONDO:subClassOf", source="Orphanet:99856"} xref: UMLS:C1299627 {source="MONDO:equivalentTo"} xref: UMLS:C1861301 {source="Orphanet:99856", source="MONDO:notFoundInDiseaseSubset"} is_a: MONDO:0017987 {source="Orphanet:99856", source="linkedlifedata"} ! syringomyelia -relationship: excluded_subClassOf MONDO:0017085 {source="Orphanet:99856"} ! malformation of the neurenteric canal, spinal cord and column +relationship: excluded_subClassOf MONDO:0017085 {source="Orphanet:99856"} ! obsolete malformation of the neurenteric canal, spinal cord and column [Term] id: MONDO:0020509 @@ -416261,24 +416294,24 @@ relationship: has_modifier MONDO:0021136 {source="MONDO:0015116"} ! rare [Term] id: MONDO:0028741 -name: overgrowth or tall stature syndrome with skeletal involvement +name: obsolete overgrowth or tall stature syndrome with skeletal involvement subset: ordo_group_of_disorders -xref: Orphanet:498448 {source="MONDO:equivalentTo"} -is_a: MONDO:0018230 {source="Orphanet:498448"} ! primary bone dysplasia +xref: Orphanet:498448 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0028742 -name: dysostosis with brachydactyly without extraskeletal manifestations +name: obsolete dysostosis with brachydactyly without extraskeletal manifestations subset: ordo_group_of_disorders -xref: Orphanet:498451 {source="MONDO:equivalentTo"} -is_a: MONDO:0019066 {source="Orphanet:498451"} ! syndrome with brachydactyly +xref: Orphanet:498451 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0028743 -name: dysostosis with brachydactyly with extraskeletal manifestations +name: obsolete dysostosis with brachydactyly with extraskeletal manifestations subset: ordo_group_of_disorders -xref: Orphanet:498454 {source="MONDO:equivalentTo"} -is_a: MONDO:0019066 {source="Orphanet:498454"} ! syndrome with brachydactyly +xref: Orphanet:498454 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0029000 @@ -421428,8 +421461,9 @@ xref: Orphanet:506334 {source="MONDO:equivalentTo", source="OMIM:617575"} xref: UMLS:C4539778 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:617575"} xref: UMLS:CN339707 {source="MONDO:equivalentTo"} is_a: MONDO:0002350 {source="DOID:0080265", source="MONDO:Redundant", source="OMIM:617575"} ! familial nephrotic syndrome +is_a: MONDO:0005377 {source="MONDO:0019987-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! nephrotic syndrome +is_a: MONDO:0015163 {source="MONDO:0019987-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary glomerular disease is_a: MONDO:0018117 {source="Orphanet:506334"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis -is_a: MONDO:0019987 {source="Orphanet:506334"} ! congenital and infantile nephrotic syndrome is_a: MONDO:0044765 ! steroid-resistant nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10817 ! SGPL1 @@ -422531,7 +422565,7 @@ def: "Duane anomaly-myopathy-scoliosis syndrome is characterised by the associat subset: ordo_disease xref: Orphanet:50817 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="Orphanet:50817"} ! disease or disorder -is_a: MONDO:0019711 {source="Orphanet:50817"} ! dysostosis with predominant vertebral and costal involvement +is_a: MONDO:0018454 {source="MONDO:0019711-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! dysostosis of genetic origin is_a: MONDO:0020253 {source="Orphanet:50817"} ! syndrome with a symptomatic strabismus relationship: has_modifier HP:0000007 {source="Orphanet:50817"} ! Autosomal recessive inheritance @@ -431391,8 +431425,9 @@ xref: DOID:0111738 {source="MONDO:equivalentTo"} xref: OMIM:301018 {source="MONDO:equivalentTo"} xref: Orphanet:500188 {source="MONDO:equivalentTo", source="OMIM:301018"} xref: UMLS:C4746975 {source="OMIM:301018"} -is_a: MONDO:0015502 {source="Orphanet:500188"} ! pinnae and external auditory canal anomaly +is_a: MONDO:0018562 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! genetic otorhinolaryngological malformation is_a: MONDO:0019589 {source="Orphanet:500188"} ! syndromic genetic deafness +is_a: MONDO:0019936 {source="MONDO:0015502-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! rare otorhinolaryngological malformation is_a: MONDO:0020768 {source="MONDO:301018"} ! X-linked deafness relationship: has_modifier HP:0001417 ! X-linked inheritance