autosomal recessive osteopetrosis 7

Term ID

DOID:0110946

Synonyms

• autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
• autosomal recessive osteopetrosis type 7
• OPTB7
• osteoclast-poor osteopetrosis with hypogammaglobulinemia
• osteopetrosis-hypogammaglobulinemia syndrome

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

References

• GARD:10106
• ICD10CM:Q78.2
• OMIM:612301
• ORDO:178389

Ontology

Human Disease   ( DOID:0110946 )