autosomal recessive osteopetrosis 5

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Summary

Literature (0)

DOID:0110939 - autosomal recessive osteopetrosis 5

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

Synonyms: OPTB5, infantile malignant osteopetrosis 3,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

OMIM:

MIM:259720 - osteopetrosis, autosomal recessive 5; optb5

MIM:259720 - osteopetrosis, autosomal recessive 5; optb5

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), osteopetrosis (is_a)