severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
http://purl.obolibrary.org/obo/MONDO_0014787
Term info
database cross reference
- UMLS:C4225193 (MONDO:ncbi_mim2gene_medline)
- Orphanet:466688 (MONDO:equivalentTo)
- OMIM:616819 (Orphanet:466688)
Subsets
ordo_malformation_syndrome
IAO 0000233
https://github.com/monarch-initiative/mondo/issues/5588
exactMatch
https://omim.org/entry/616819, http://linkedlifedata.com/resource/umls/id/C4225193, http://purl.obolibrary.org/obo/Orphanet_466688
excluded subClassOf
http://purl.obolibrary.org/obo/MONDO_0000508
has exact synonym
CCAFCA, corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia
has related synonym
Birk-Flusser syndrome, corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia
id
MONDO:0014787