Preferred Label : Type II Acrocephalopolysyndactyly;
NCIt synonyms : Acrocephalopolysyndactyly Type II; Carpenter Syndrome;
NCIt related terms : Carpenter's Syndrome;
NCIt definition : 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.;
Alternative definition : NICHD: An autosomal recessive syndrome due to mutation(s) in the RAB23 gene, encoding
Ras-related protein RAB23, a member of the RAS oncogene family and the MEGF8 gene,
encoding multiple epidermal growth factor-like domains protein 8. This condition is
characterized by growth failure and craniosynostosis leading to acrocephaly, brachydactyly
with syndactly, congenital heart defects, hypogonadism, and obesity.;
Origin ID : C98873;
UMLS CUI : C1275078;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to BTNT
Validated automatic mappings to NTBT
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disease_has_finding
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