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DO Term : autosomal recessive osteopetrosis 5 [DOID:0110939] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21.

synonyms:
GARD:4153,
259720,
OMIM:259720,
infantile malignant osteopetrosis 3,
OPTB5

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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