Term Name: | autosomal recessive osteopetrosis 4 |
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Synonyms: | infantile malignant osteopetrosis 2, OPTB4 |
Definition: | An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. |
Ontology: | Human Disease [DOID:0110944] ( DOID:0110944 ) |