autosomal recessive osteopetrosis 8

Term ID

DOID:0110940

Synonyms

• OPTB8

Definition

An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. https://www.ncbi.nlm.nih.gov/pubmed/22499339

References

• OMIM:615085

Ontology

Human Disease   ( DOID:0110940 )