Term Name: | autosomal recessive osteopetrosis 6 |
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Synonyms: | autosomal recessive osteopetrosis intermediate form, OPTB6 |
Definition: | An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. |
Ontology: | Human Disease [DOID:0110945] ( DOID:0110945 ) |