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Metadata
ID DOID:0090020
Name split hand-foot malformation
Definition A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
https://www.ncbi.nlm.nih.gov/pubmed/7802032, https://www.ncbi.nlm.nih.gov/pubmed/12668597
Xrefs

GARD:6319

MESH:C574275

MIM:PS183600

NCI:C75000

ORDO:2440

SNOMEDCT_US_2023_03_01:81208006

UMLS_CUI:C0265554

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

lobster-claw deformity [EXACT]

split-hand deformity [EXACT]

Parent Relationships

is_a bone development disease

Subclass Logical Relationships

disease has location some (foot and hand)

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