Carpenter syndrome
http://purl.obolibrary.org/obo/MONDO_0019012
An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation. [ NCIT:C98873 ]
Term info
- NCIT:C98873 (MONDO:equivalentTo)
- GARD:0006003 (MONDO:equivalentTo)
- UMLS:CN229565 (MONDO:equivalentTo)
- Orphanet:65759 (MONDO:equivalentTo)
- SCTID:83728000 (MONDO:relatedTo)
- DOID:0060234 (MONDO:equivalentTo)
- OMIMPS:201000 (MONDO:equivalentTo)
- SCTID:403767009 (MONDO:equivalentTo)
- UMLS:C1275078 (Orphanet:65759/e)
ordo_malformation_syndrome
An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.
https://omim.org/phenotypicSeries/PS201000, http://identifiers.org/snomedct/403767009, http://purl.obolibrary.org/obo/DOID_0060234, http://purl.obolibrary.org/obo/Orphanet_65759, http://linkedlifedata.com/resource/umls/id/C1275078, http://purl.obolibrary.org/obo/NCIT_C98873, http://linkedlifedata.com/resource/umls/id/CN229565
Carpenter 's syndrome, acrocephalopolysyndactyly type 2, type II Acrocephalopolysyndactyly, Carpenter syndrome, acrocephalopolysyndactyly type II, ACPS2
acrocephalosyndactyly, type II
MONDO:0019012