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Echinobase
Summary Literature (0)
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,

Echinobase Genes :


OMIM:
MIM:611497 - osteopetrosis, autosomal recessive 6; optb6

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): osteopetrosis (is_a)