Term Name: | autosomal recessive osteopetrosis 8 |
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Synonyms: | OPTB8 |
Definition: | An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. |
Ontology: | Human Disease [DOID:0110940] ( DOID:0110940 ) |