| Metadata | |
|---|---|
| ID | DOID:0110943 |
| Name | autosomal recessive osteopetrosis 2 |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
mild autosomal recessive form osteopetrosis [EXACT] OPTB2 [EXACT] osteoclast-poor osteopetrosis [EXACT] |
| Parent Relationships |
is_a osteopetrosis |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |