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Metadata
DOID DOID:0110944
Name autosomal recessive osteopetrosis 4
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.
https://www.ncbi.nlm.nih.gov/pubmed/11207362
Synonyms

infantile malignant osteopetrosis 2 [EXACT]

OPTB4 [EXACT]

Xrefs

GARD:5993

OMIM:611490

Relationships

is_a osteopetrosis

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