| Metadata | |
|---|---|
| ID | DOID:0110938 |
| Name | autosomal dominant osteopetrosis 2 |
| Definition | An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/11741829, https://www.ncbi.nlm.nih.gov/pubmed/3588909 |
| Xrefs |
SNOMEDCT_US_2023_03_01:725050005 |
| Subsets |
DO_rare_slim |
| Synonyms |
Albers-Schonberg osteopetrosis [EXACT] autosomal dominant Albers-Schonberg disease [EXACT] autosomal dominant osteopetrosis type II [EXACT] OPTA2 [EXACT] osteopetrosis autosomal dominant type 2 [EXACT] |
| Parent Relationships |
is_a osteopetrosis is_a spinal disease |