| Metadata | |
|---|---|
| ID | DOID:0111534 |
| Name | multicentric carpotarsal osteolysis syndrome |
| Definition | A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. https://www.ncbi.nlm.nih.gov/pubmed/3041835, https://www.ncbi.nlm.nih.gov/pubmed/22387013 |
| Xrefs |
SNOMEDCT_US_2023_03_01:766992008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
autosomal dominant multicentric osteolysis [EXACT] hereditary osteolysis of carpal bones with or without nephropathy [EXACT] idiopathic multicentric osteolysis with or without nephropathy [EXACT] MCTO [EXACT] multicentric carpo-tarsal osteolysis with or without nephropathy [EXACT] multicentric osteolysis nephropathy [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |