Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. [ Orphanet:87 ]
Synonyms: acrocephalosyndactyly type I Apert syndrome acrocephalosyndactyly type 1 type I Acrocephalosyndactyly ACS1
Term information
- MedDRA:10002943 (Orphanet:87/e)
- UMLS:C0001193 (Orphanet:87/e)
- SCTID:205258009 (MONDO:equivalentTo)
- NCIT:C99099 (MONDO:equivalentTo)
- NORD:793 (MONDO:NORD)
- GARD:5833 (Orphanet:87)
- Orphanet:87 (OMIM:101200)
- OMIM:101200 (Orphanet:87/e)
- MESH:D000168 (Orphanet:87/e)
gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/4948
https://github.com/monarch-initiative/mondo/issues/6332
http://purl.obolibrary.org/obo/NCIT_C99099
http://identifiers.org/mesh/D000168
http://www.orpha.net/ORDO/Orphanet_87
http://identifiers.org/snomedct/205258009
http://linkedlifedata.com/resource/umls/id/C0001193
https://omim.org/entry/101200
ACS 2
ACS 1
acrocephalosyndactyly, type 1
acrocephalosyndactyly, type 2
Vogt Cephalodactyly
acrocephalo-syndactyly type 1
Apert-Crouzon disease
syndactylic oxycephaly