autosomal recessive osteopetrosis 5

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

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: infantile malignant osteopetrosis 3, OPTB5

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

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

: ostm1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009817 - autosomal recessive osteopetrosis 5

MONDO:0009817 - autosomal recessive osteopetrosis 5

Other Model Organisms: Alliance, 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)