autosomal recessive osteopetrosis 5

Term ID

DOID:0110939

Synonyms

• infantile malignant osteopetrosis 3
• OPTB5

Definition

An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/12627228

References

• GARD:4153
• OMIM:259720

Ontology

Human Disease   ( DOID:0110939 )