autosomal recessive osteopetrosis 2

Term ID

DOID:0110943

Synonyms

• mild autosomal recessive form osteopetrosis
• OPTB2
• osteoclast-poor osteopetrosis

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

References

• GARD:4157
• OMIM:259710

Ontology

Human Disease   ( DOID:0110943 )