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Metadata
ID DOID:0110946
Name autosomal recessive osteopetrosis 7
Definition An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.
https://www.ncbi.nlm.nih.gov/pubmed/18606301
Xrefs

GARD:10106

ICD10CM:Q78.2

OMIM:612301

ORDO:178389

Synonyms

autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia [EXACT]

autosomal recessive osteopetrosis type 7 [EXACT]

OPTB7 [EXACT]

osteoclast-poor osteopetrosis with hypogammaglobulinemia [EXACT]

osteopetrosis-hypogammaglobulinemia syndrome [EXACT]

Parent Relationships

is_a osteopetrosis

is_a autosomal recessive disease

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