add autosomal dominant intellectual developmental disorder subtypes

csbjohnson · csbjohnson · commit 8ef1ef044098 · 2025-02-12T13:36:22.000-05:00
diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl
@@ -2053,6 +2053,25 @@ Declaration(Class(obo:DOID_0061027))
 Declaration(Class(obo:DOID_0061028))
 Declaration(Class(obo:DOID_0061029))
 Declaration(Class(obo:DOID_0061030))
+Declaration(Class(obo:DOID_0061031))
+Declaration(Class(obo:DOID_0061032))
+Declaration(Class(obo:DOID_0061033))
+Declaration(Class(obo:DOID_0061034))
+Declaration(Class(obo:DOID_0061035))
+Declaration(Class(obo:DOID_0061036))
+Declaration(Class(obo:DOID_0061037))
+Declaration(Class(obo:DOID_0061038))
+Declaration(Class(obo:DOID_0061039))
+Declaration(Class(obo:DOID_0061040))
+Declaration(Class(obo:DOID_0061041))
+Declaration(Class(obo:DOID_0061042))
+Declaration(Class(obo:DOID_0061043))
+Declaration(Class(obo:DOID_0061044))
+Declaration(Class(obo:DOID_0061045))
+Declaration(Class(obo:DOID_0061046))
+Declaration(Class(obo:DOID_0061047))
+Declaration(Class(obo:DOID_0061048))
+Declaration(Class(obo:DOID_0061049))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -42643,6 +42662,204 @@ AnnotationAssertion(rdfs:label obo:DOID_0061030 "hemophilia")
 SubClassOf(obo:DOID_0061030 obo:DOID_1247)
 SubClassOf(obo:DOID_0061030 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000007))
 
+# Class: obo:DOID_0061031 (autosomal dominant intellectual developmental disorder 57)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29861108/") obo:IAO_0000115 obo:DOID_0061031 "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061031 "MIM:618050")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061031 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061031 "DOID:0061031")
+AnnotationAssertion(rdfs:label obo:DOID_0061031 "autosomal dominant intellectual developmental disorder 57")
+SubClassOf(obo:DOID_0061031 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061031 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061032 (autosomal dominant intellectual developmental disorder 58)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29688601/") obo:IAO_0000115 obo:DOID_0061032 "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061032 "MIM:618106")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061032 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061032 "DOID:0061032")
+AnnotationAssertion(rdfs:label obo:DOID_0061032 "autosomal dominant intellectual developmental disorder 58")
+SubClassOf(obo:DOID_0061032 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061032 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061033 (autosomal dominant intellectual developmental disorder 59)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30184290/") obo:IAO_0000115 obo:DOID_0061033 "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22.
+
+")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061033 "MIM:618522")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061033 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061033 "DOID:0061033")
+AnnotationAssertion(rdfs:label obo:DOID_0061033 "autosomal dominant intellectual developmental disorder 59")
+SubClassOf(obo:DOID_0061033 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061033 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061034 (autosomal dominant intellectual developmental disorder 61)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29740699/") obo:IAO_0000115 obo:DOID_0061034 "An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061034 "MIM:618009")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061034 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061034 "DOID:0061034")
+AnnotationAssertion(rdfs:label obo:DOID_0061034 "autosomal dominant intellectual developmental disorder 61")
+SubClassOf(obo:DOID_0061034 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061034 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061035 (autosomal dominant intellectual developmental disorder 62)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/29460436/") obo:IAO_0000115 obo:DOID_0061035 "An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061035 "MIM:618793")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061035 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061035 "DOID:0061035")
+AnnotationAssertion(rdfs:label obo:DOID_0061035 "autosomal dominant intellectual developmental disorder 62")
+SubClassOf(obo:DOID_0061035 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061035 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061036 (autosomal dominant intellectual developmental disorder 63 with macrocephaly)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32109419/") obo:IAO_0000115 obo:DOID_0061036 "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061036 "MIM:618825")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061036 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061036 "DOID:0061036")
+AnnotationAssertion(rdfs:label obo:DOID_0061036 "autosomal dominant intellectual developmental disorder 63 with macrocephaly")
+SubClassOf(obo:DOID_0061036 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061036 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061037 (autosomal dominant intellectual developmental disorder 64)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31723249/") obo:IAO_0000115 obo:DOID_0061037 "An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061037 "MIM:619188")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061037 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061037 "DOID:0061037")
+AnnotationAssertion(rdfs:label obo:DOID_0061037 "autosomal dominant intellectual developmental disorder 64")
+SubClassOf(obo:DOID_0061037 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061037 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061038 (autosomal dominant intellectual developmental disorder 65)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33232677/") obo:IAO_0000115 obo:DOID_0061038 "An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13.
+
+")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061038 "MIM:619320")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061038 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061038 "DOID:0061038")
+AnnotationAssertion(rdfs:label obo:DOID_0061038 "autosomal dominant intellectual developmental disorder 65")
+SubClassOf(obo:DOID_0061038 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061038 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061039 (autosomal dominant intellectual developmental disorder 66)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35358416/") obo:IAO_0000115 obo:DOID_0061039 "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061039 "MIM:619910")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061039 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061039 "DOID:0061039")
+AnnotationAssertion(rdfs:label obo:DOID_0061039 "autosomal dominant intellectual developmental disorder 66")
+SubClassOf(obo:DOID_0061039 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061039 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061040 (autosomal dominant intellectual developmental disorder 67)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35675825/") obo:IAO_0000115 obo:DOID_0061040 "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33.
+
+")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061040 "MIM:619927")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061040 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061040 "DOID:0061040")
+AnnotationAssertion(rdfs:label obo:DOID_0061040 "autosomal dominant intellectual developmental disorder 67")
+SubClassOf(obo:DOID_0061040 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061040 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061041 (autosomal dominant intellectual developmental disorder 68)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33150406/") obo:IAO_0000115 obo:DOID_0061041 "An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly , poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061041 "MIM:619934")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061041 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061041 "DOID:0061041")
+AnnotationAssertion(rdfs:label obo:DOID_0061041 "autosomal dominant intellectual developmental disorder 68")
+SubClassOf(obo:DOID_0061041 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061041 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061042 (autosomal dominant intellectual developmental disorder 69)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31020005/") obo:IAO_0000115 obo:DOID_0061042 "An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061042 "MIM:617863")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061042 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061042 "DOID:0061042")
+AnnotationAssertion(rdfs:label obo:DOID_0061042 "autosomal dominant intellectual developmental disorder 69")
+SubClassOf(obo:DOID_0061042 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061042 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061043 (autosomal dominant intellectual developmental disorder 70)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32710489/") obo:IAO_0000115 obo:DOID_0061043 "An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in  a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061043 "MIM:620157")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061043 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061043 "DOID:0061043")
+AnnotationAssertion(rdfs:label obo:DOID_0061043 "autosomal dominant intellectual developmental disorder 70")
+SubClassOf(obo:DOID_0061043 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061043 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061044 (autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/33658631/") obo:IAO_0000115 obo:DOID_0061044 "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061044 "MIM:620330")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061044 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061044 "DOID:0061044")
+AnnotationAssertion(rdfs:label obo:DOID_0061044 "autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities")
+SubClassOf(obo:DOID_0061044 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061044 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061045 (autosomal dominant intellectual developmental disorder 72)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35567594/") obo:IAO_0000115 obo:DOID_0061045 "An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in  heterozygous mutation in the SRRM2 gene on chromosome 16p13.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061045 "MIM:620439")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061045 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061045 "DOID:0061045")
+AnnotationAssertion(rdfs:label obo:DOID_0061045 "autosomal dominant intellectual developmental disorder 72")
+SubClassOf(obo:DOID_0061045 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061045 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061046 (autosomal dominant intellectual developmental disorder 73)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35904126/") obo:IAO_0000115 obo:DOID_0061046 "An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061046 "MIM:620450")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061046 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061046 "DOID:0061046")
+AnnotationAssertion(rdfs:label obo:DOID_0061046 "autosomal dominant intellectual developmental disorder 73")
+SubClassOf(obo:DOID_0061046 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061046 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061047 (autosomal dominant intellectual developmental disorder 74)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37541189/") obo:IAO_0000115 obo:DOID_0061047 "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061047 "MIM:620688")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061047 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061047 "DOID:0061047")
+AnnotationAssertion(rdfs:label obo:DOID_0061047 "autosomal dominant intellectual developmental disorder 74")
+SubClassOf(obo:DOID_0061047 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061047 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061048 (autosomal dominant intellectual developmental disorder 75)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37467750/") obo:IAO_0000115 obo:DOID_0061048 "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061048 "MIM:620988")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061048 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061048 "DOID:0061048")
+AnnotationAssertion(rdfs:label obo:DOID_0061048 "autosomal dominant intellectual developmental disorder 75")
+SubClassOf(obo:DOID_0061048 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061048 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
+# Class: obo:DOID_0061049 (autosomal dominant intellectual developmental disorder  type FRA12A)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/17236128/") obo:IAO_0000115 obo:DOID_0061049 "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13.
+
+")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061049 "MIM:136630")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061049 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061049 "DOID:0061049")
+AnnotationAssertion(rdfs:label obo:DOID_0061049 "autosomal dominant intellectual developmental disorder  type FRA12A")
+SubClassOf(obo:DOID_0061049 obo:DOID_0060307)
+SubClassOf(obo:DOID_0061049 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
+
 # Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.")
