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Metadata
ID DOID:0110943
Name autosomal recessive osteopetrosis 2
Definition An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.
https://www.ncbi.nlm.nih.gov/pubmed/17632511
Xrefs

GARD:4157

OMIM:259710

Synonyms

mild autosomal recessive form osteopetrosis [EXACT]

OPTB2 [EXACT]

osteoclast-poor osteopetrosis [EXACT]

Parent Relationships

is_a osteopetrosis

is_a autosomal recessive disease

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