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Metadata
ID DOID:0110939
Name autosomal recessive osteopetrosis 5
Definition An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21.
https://www.ncbi.nlm.nih.gov/pubmed/12627228
Xrefs

GARD:4153

OMIM:259720

Synonyms

infantile malignant osteopetrosis 3 [EXACT]

OPTB5 [EXACT]

Parent Relationships

is_a osteopetrosis

is_a autosomal recessive disease

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