| Metadata | |
|---|---|
| ID | DOID:0110945 |
| Name | autosomal recessive osteopetrosis 6 |
| Definition | An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. https://www.ncbi.nlm.nih.gov/pubmed/17404618 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive osteopetrosis intermediate form [EXACT] OPTB6 [EXACT] |
| Parent Relationships |
is_a osteopetrosis |