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Add subtypes of 'congenital mirror movement disorder'
Closes #1471
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‎src/ontology/doid-edit.owl‎

Lines changed: 60 additions & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -2821,6 +2821,10 @@ Declaration(Class(obo:DOID_0070632))
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Declaration(Class(obo:DOID_0070633))
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Declaration(Class(obo:DOID_0070634))
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Declaration(Class(obo:DOID_0070635))
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Declaration(Class(obo:DOID_0070636))
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Declaration(Class(obo:DOID_0070637))
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Declaration(Class(obo:DOID_0070638))
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Declaration(Class(obo:DOID_0070639))
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Declaration(Class(obo:DOID_0080000))
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Declaration(Class(obo:DOID_0080001))
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Declaration(Class(obo:DOID_0080005))
@@ -52967,6 +52971,54 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0070635 "DOID:0070635")
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AnnotationAssertion(rdfs:label obo:DOID_0070635 "cardiovascular-kidney-metabolic syndrome")
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SubClassOf(obo:DOID_0070635 obo:DOID_225)
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# Class: obo:DOID_0070636 (mirror movements 1)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5894478/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/20431009/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31697046/") obo:IAO_0000115 obo:DOID_0070636 "A congenital mirror movement disorder characterized by mirror movements and/or agenesis of the corpus callosum that has_material_basis_in heterozygous mutation in the DCC gene on chromosome 18q21, with incomplete penetrance.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070636 "MIM:157600")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070636 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0070636 "DOID:0070636")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070636 doid:DO_rare_slim)
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AnnotationAssertion(rdfs:label obo:DOID_0070636 "mirror movements 1")
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AnnotationAssertion(skos:exactMatch obo:DOID_0070636 "MIM:157600")
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SubClassOf(obo:DOID_0070636 obo:DOID_0111153)
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SubClassOf(obo:DOID_0070636 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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# Class: obo:DOID_0070637 (mirror movements 2)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5099496/") obo:IAO_0000115 obo:DOID_0070637 "A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070637 "MIM:614508")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070637 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0070637 "DOID:0070637")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070637 doid:DO_rare_slim)
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AnnotationAssertion(rdfs:label obo:DOID_0070637 "mirror movements 2")
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AnnotationAssertion(skos:exactMatch obo:DOID_0070637 "MIM:614508")
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SubClassOf(obo:DOID_0070637 obo:DOID_0111153)
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SubClassOf(obo:DOID_0070637 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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# Class: obo:DOID_0070638 (mirror movements 4)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5663368/") obo:IAO_0000115 obo:DOID_0070638 "A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the NTN1 gene on chromosome 17p13.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070638 "MIM:618264")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070638 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0070638 "DOID:0070638")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070638 doid:DO_rare_slim)
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AnnotationAssertion(rdfs:label obo:DOID_0070638 "mirror movements 4")
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AnnotationAssertion(skos:exactMatch obo:DOID_0070638 "MIM:618264")
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SubClassOf(obo:DOID_0070638 obo:DOID_0111153)
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SubClassOf(obo:DOID_0070638 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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# Class: obo:DOID_0070639 (mirror movements 3)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25098561/") obo:IAO_0000115 obo:DOID_0070639 "A congenital mirror movement disorder that has_material_basis_in homozygous mutation in the DNAL4 gene on chromosome 22q13.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070639 "MIM:616059")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070639 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0070639 "DOID:0070639")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070639 doid:DO_rare_slim)
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AnnotationAssertion(rdfs:label obo:DOID_0070639 "mirror movements 3")
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AnnotationAssertion(skos:exactMatch obo:DOID_0070639 "MIM:616059")
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SubClassOf(obo:DOID_0070639 obo:DOID_0111153)
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SubClassOf(obo:DOID_0070639 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0080000 (muscular disease)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html") obo:IAO_0000115 obo:DOID_0080000 "A musculoskeletal system disease that affects the muscles.")
@@ -87169,8 +87221,11 @@ SubClassOf(obo:DOID_0111152 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000691
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# Class: obo:DOID_0111153 (congenital mirror movement disorder)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder#sourcesforpage") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25763452") obo:IAO_0000115 obo:DOID_0111153 "A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder#sourcesforpage") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK279760/") obo:IAO_0000115 obo:DOID_0111153 "A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111153 "GARD:12551")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111153 "MIM:PS157600")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111153 "ORDO:238722")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111153 "UMLS_CUI:C5191311")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111153 "familial congenital controlateral synkinesia")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111153 "familial congenital mirror movements")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111153 "hereditary congenital controlateral synkinesia")
@@ -87181,6 +87236,10 @@ AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111153 "disease_ontology"
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AnnotationAssertion(oboInOwl:id obo:DOID_0111153 "DOID:0111153")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0111153 doid:DO_rare_slim)
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AnnotationAssertion(rdfs:label obo:DOID_0111153 "congenital mirror movement disorder")
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AnnotationAssertion(skos:exactMatch obo:DOID_0111153 "GARD:12551")
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AnnotationAssertion(skos:exactMatch obo:DOID_0111153 "MIM:PS157600")
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AnnotationAssertion(skos:exactMatch obo:DOID_0111153 "UMLS_CUI:C5191311")
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AnnotationAssertion(skos:exactMatch obo:DOID_0111153 "ORDO:238722")
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SubClassOf(obo:DOID_0111153 obo:DOID_480)
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SubClassOf(obo:DOID_0111153 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))
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