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Metadata
ID DOID:0090027
Name split hand-foot malformation 2
Definition A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26.
https://www.ncbi.nlm.nih.gov/pubmed/15617554
Xrefs

MESH:C574275

NCI:C75000

OMIM:313350

ORDO:2440

SNOMEDCT_US_2023_03_01:81208006

UMLS_CUI:C0265554

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

SHFM2 [EXACT]

Parent Relationships

is_a split hand-foot malformation

is_a X-linked monogenic disease

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