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DO Term : autosomal dominant craniometaphyseal dysplasia [DOID:0080801] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15.

synonyms:
OMIM:123000,
123000

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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