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autosomal recessive osteopetrosis 4

^ http://purl.obolibrary.org/obo/DOID_0110944


An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. [ url:https://www.ncbi.nlm.nih.gov/pubmed/11207362 ]

Synonyms: infantile malignant osteopetrosis 2, OPTB4