Term Name: | autosomal recessive osteopetrosis 5 |
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Synonyms: | infantile malignant osteopetrosis 3, OPTB5 |
Definition: | An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. |
Ontology: | Human Disease [DOID:0110939] ( DOID:0110939 ) |