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Carpenter syndrome

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description 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.
Disease Ontology Description An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
Mondo Term and Equivalent IDs
MONDO:0019012:  Carpenter syndrome
GARD:0006003: 
NCIT:C98873: 
OMIMPS:201000: 
Orphanet:65759: 
SCTID:403767009: 
UMLS:C1275078: 
UMLS:CN229565: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)