JSON

acrocephalosyndactyly

^ 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 ]

Term info

database cross reference
  • DOID:12960 (MONDO:equivalentTo)
  • GARD:0000486 (MONDO:equivalentTo)
  • NCIT:C34348 (MONDO:exact-label-match)
  • SCTID:268262006 (MONDO:equivalentTo)
  • Orphanet:946 (MONDO:equivalentObsolete)
  • MedDRA:10000590 (Orphanet:946/e)
  • ICD9:755.55 (MONDO:i2s)
  • EFO:0004123 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

abbreviation
ACS [ Orphanet:946 ]

closeMatch

http://identifiers.org/meddra/10000590

definition

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.

exactMatch

http://identifiers.org/snomedct/268262006, http://purl.obolibrary.org/obo/NCIT_C34348, http://purl.obolibrary.org/obo/DOID_12960

has exact synonym

acrocephalosyndactylia, ACS, acrocephalosyndactyly

id

MONDO:0019796