JSON

Aase-Smith syndrome

^ http://purl.obolibrary.org/obo/MONDO_0007839

Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. [ Orphanet:916 ]

Term info

database cross reference
  • MESH:C535332 (Orphanet:916/e)
  • MedDRA:10063429 (Orphanet:916/e)
  • SCTID:718576001 (MONDO:equivalentTo)
  • UMLS:C0220686 (Orphanet:916/e)
  • OMIM:147800 (Orphanet:916/e)
  • GARD:0005642 (MONDO:equivalentTo)
  • Orphanet:916 (OMIM:147800)
Subsets

ordo_malformation_syndrome

closeMatch

http://identifiers.org/meddra/10063429

definition

Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0220686, http://identifiers.org/snomedct/718576001, http://purl.obolibrary.org/obo/Orphanet_916, https://omim.org/entry/147800, http://identifiers.org/mesh/C535332

has exact synonym

Aase-Smith I syndrome, Aase-Smith syndrome type 1, hydrocephalus-cleft palate-joint contractures syndrome, Aase-Smith syndrome

has related synonym

Aase-Smith syndrome 1, Aase-Smith syndrome I, Joint contractures with Other abnormalities

id

MONDO:0007839