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autosomal recessive osteopetrosis 6
Summary
- Synonym
-
- OPTB6
- autosomal recessive osteopetrosis intermediate form
- Definition
- An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.
- Super Class
- autosomal recessive disease osteopetrosis
External Links
- Disease Ontology
- DOID:0110945
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
