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cerebellar-facial-dental syndrome

^ http://purl.obolibrary.org/obo/MONDO_0014529

A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. [ DOID:0080898 ]

Term info

database cross reference
  • EFO:0009030 (MONDO:equivalentTo)
  • Orphanet:444072 (MONDO:equivalentTo)
  • OMIM:616202 (Orphanet:444072/e)
  • DOID:0080898 (MONDO:equivalentTo)
  • UMLS:C4015495 (MONDO:ncbi_mim2gene_medline)
  • UMLS:CN221667 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

abbreviation
CFDS [ OMIM:616202 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN221667, http://linkedlifedata.com/resource/umls/id/C4015495, http://purl.obolibrary.org/obo/DOID_0080898, http://purl.obolibrary.org/obo/Orphanet_444072, https://omim.org/entry/616202

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

cerebellar-facial-dental syndrome, Cerebellofaciodental syndrome

has related synonym

CFDS, CEREBELLOFACIODENTAL syndrome

id

MONDO:0014529