Visualize Submit Comment

Metadata
ID	DOID:0110945
Name	autosomal recessive osteopetrosis 6
Definition	An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. https://www.ncbi.nlm.nih.gov/pubmed/17404618
Xrefs	GARD:4156 OMIM:611497
Subsets	DO_rare_slim
Synonyms	autosomal recessive osteopetrosis intermediate form [EXACT] OPTB6 [EXACT]
Parent Relationships	is_a osteopetrosis is_a autosomal recessive disease