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DO Term : autosomal dominant spondyloepiphyseal dysplasia tarda [DOID:0112285] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13.

synonyms:
OMIM:184100,
GARD:10624,
184100

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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