|
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: OPTB6, autosomal recessive osteopetrosis intermediate form,
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
MONDO:0012679 - autosomal recessive osteopetrosis 6 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee