JSON

acrocephalosyndactyly

Go to external page http://purl.obolibrary.org/obo/MONDO_0019796

Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations. [ Orphanet:946 ]

Synonyms: acrocephalosyndactylia ACS acrocephalosyndactyly

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:755.55 (MONDO:i2s)
  • MedDRA:10000590 (Orphanet:946/e)
  • EFO:0004123 (MONDO:equivalentTo)
  • DOID:12960 (MONDO:equivalentTo)
  • NCIT:C34348 (MONDO:exact-label-match)
  • Orphanet:946 (MONDO:equivalentObsolete)
  • SCTID:268262006 (MONDO:equivalentTo)
Subsets

disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6751

closeMatch

http://identifiers.org/meddra/10000590

exactMatch

http://purl.obolibrary.org/obo/NCIT_C34348

http://identifiers.org/snomedct/268262006

http://purl.obolibrary.org/obo/DOID_12960

id

MONDO:0019796