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Metadata
ID DOID:0110940
Name autosomal recessive osteopetrosis 8
Definition An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15.
https://www.ncbi.nlm.nih.gov/pubmed/22499339
Xrefs

OMIM:615085

Synonyms

OPTB8 [EXACT]

Parent Relationships

is_a osteopetrosis

is_a autosomal recessive disease

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