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DO Term : autosomal recessive osteopetrosis 4 [DOID:0110944] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.

synonyms:
OPTB4,
611490,
GARD:5993,
infantile malignant osteopetrosis 2,
OMIM:611490

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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