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Metadata
ID DOID:0090023
Name split hand-foot malformation 4
Definition A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.
https://www.ncbi.nlm.nih.gov/pubmed/10839977
Xrefs

MESH:C574275

MIM:605289

NCI:C75000

ORDO:2440

SNOMEDCT_US_2023_03_01:81208006

UMLS_CUI:C0265554

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

SHFM4 [EXACT]

Parent Relationships

is_a split hand-foot malformation

is_a autosomal dominant disease

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