JSON

facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

^ http://purl.obolibrary.org/obo/MONDO_0009074

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive. [ Orphanet:1970 ]

Term info

database cross reference
  • MESH:C535985 (MONDO:equivalentTo)
  • OMIM:220219 (Orphanet:1970/e)
  • Orphanet:1970 (OMIM:220219)
  • UMLS:C1857352 (Orphanet:1970)
Subsets

ordo_malformation_syndrome

A synonym that is historic and discouraged
Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY [ OMIM:220219 ]

IAO 0000233

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

definition

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1857352, http://identifiers.org/mesh/C535985, http://purl.obolibrary.org/obo/Orphanet_1970, https://omim.org/entry/220219

excluded subClassOf

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

has related synonym

Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY, Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY

id

MONDO:0009074