autosomal recessive osteopetrosis 6

Summary

DOID:0110945 - autosomal recessive osteopetrosis 6

Disease Ontology Definition:An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.

Synonyms: autosomal recessive osteopetrosis intermediate form, OPTB6

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

: clcn7, tcirg1, plekhm1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012679 - autosomal recessive osteopetrosis 6

MONDO:0012679 - autosomal recessive osteopetrosis 6

MIM:

MIM:611497 - OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6

MIM:611497 - OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6

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)