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DO Term : split hand-foot malformation 1 with sensorineural hearing loss [DOID:0090024] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21.

synonyms:
ORDO:71271,
SHFM1D,
ICD10CM:Q87.2,
220600,
congenital deafness with split hands and feet,
OMIM:220600

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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