| Metadata | |
|---|---|
| ID | DOID:0110939 |
| Name | autosomal recessive osteopetrosis 5 |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
infantile malignant osteopetrosis 3 [EXACT] OPTB5 [EXACT] |
| Parent Relationships |
is_a osteopetrosis |