Reclassify and update pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures & bilateral frontoparietal polymicrogyria

#1472

Author: csbjohnson

src/ontology/doid-edit.owl

@@ -63307,16 +63307,18 @@ SubClassOf(obo:DOID_0080921 ObjectSomeValuesFrom(obo:RO_0004029 obo:DOID_1059))
 
 # Class: obo:DOID_0080922 (bilateral frontoparietal polymicrogyria)
 
-AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria/cases/32002") obo:IAO_0000115 obo:DOID_0080922 "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21.")
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/34863467/") obo:IAO_0000115 obo:DOID_0080922 "A polymicrogyria that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080922 "GARD:10784")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080922 "MIM:606854")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080922 "NCI:C148367")
+AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0080922 "CDCBM14A")
+AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080922 "complex cortical dysplasia with other brain malformations 14A")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080922 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0080922 "DOID:0080922")
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0080922 doid:DO_rare_slim)
 AnnotationAssertion(oboInOwl:inSubset obo:DOID_0080922 doid:NCIthesaurus)
 AnnotationAssertion(rdfs:label obo:DOID_0080922 "bilateral frontoparietal polymicrogyria")
-SubClassOf(obo:DOID_0080922 obo:DOID_0080918)
+SubClassOf(obo:DOID_0080922 obo:DOID_0090131)
 SubClassOf(obo:DOID_0080922 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
 # Class: obo:DOID_0080923 (bilateral parasagittal parieto-occipital polymicrogyria)
@@ -66857,6 +66859,7 @@ SubClassOf(obo:DOID_0081265 obo:DOID_0060308)
 AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31630790/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/36078134/") obo:IAO_0000115 obo:DOID_0081266 "A cortical dysplasia with other brain malformation that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26.")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081266 "MIM:618737")
 AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0081266 "PAMDDFS")
+AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0081266 "CDCBM15")
 AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081266 "complex cortical dysplasia with other brain malformations 15")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081266 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0081266 "DOID:0081266")