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DO Term : syndactyly type 8 [DOID:0111813] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1.

synonyms:
MESH:C564100,
SNOMEDCT_US_2023_03_01:715442006,
fusion of metacarpals 4 and 5,
metacarpal 4-5 fusion,
UMLS_CUI:C1839728,
GARD:3559,
ORDO:2498,
OMIM:309630,
309630

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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