| Metadata | |
|---|---|
| ID | DOID:0110946 |
| Name | autosomal recessive osteopetrosis 7 |
| Definition | An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. https://www.ncbi.nlm.nih.gov/pubmed/18606301 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia [EXACT] autosomal recessive osteopetrosis type 7 [EXACT] OPTB7 [EXACT] osteoclast-poor osteopetrosis with hypogammaglobulinemia [EXACT] osteopetrosis-hypogammaglobulinemia syndrome [EXACT] |
| Parent Relationships |
is_a osteopetrosis |