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Metadata
ID DOID:0090025
Name split hand-foot malformation 3
Definition A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24.
https://www.ncbi.nlm.nih.gov/pubmed/14699611
Xrefs

MESH:C574275

NCI:C75000

OMIM:246560

ORDO:2440

SNOMEDCT_US_2023_03_01:81208006

UMLS_CUI:C0265554

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

chromosome 10q24 duplication syndrome [EXACT]

distal limb deficiencies with micrognathia [EXACT]

SHFM3 [EXACT]

Parent Relationships

is_a split hand-foot malformation

is_a chromosomal duplication syndrome

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