| Metadata | |
|---|---|
| ID | DOID:0110941 |
| Name | autosomal recessive osteopetrosis 3 |
| Definition | An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. https://www.ncbi.nlm.nih.gov/pubmed/1928091 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive osteopetrosis 3 with renal tubular acidosis [EXACT] carbonic anhydrase II deficiency [EXACT] Guibaud-Vainsel syndrome [EXACT] marble brain disease [EXACT] OPTB3 [EXACT] osteopetrosis with renal tubular acidosis [EXACT] |
| Parent Relationships |
is_a osteopetrosis |