JSON

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

Go to external page http://purl.obolibrary.org/obo/MONDO_0009074

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized 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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:1970 (OMIM:220219)
  • GARD:2222 (MONDO:GARD)
  • MEDGEN:341752 (MONDO:equivalentTo)
  • MESH:C535985 (MONDO:equivalentTo)
  • OMIM:220219 (Orphanet:1970/e)
  • UMLS:C1857352 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, orphanet_rare

A synonym that is historic and discouraged
Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY [ https://omim.org/entry/220219 ]

exactMatch

http://linkedlifedata.com/resource/umls/id/C1857352

http://identifiers.org/mesh/C535985

https://omim.org/entry/220219

http://www.orpha.net/ORDO/Orphanet_1970

http://identifiers.org/medgen/341752

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

term tracker item

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