metachondromatosis
Information
- Disease name
- metachondromatosis
- Disease ID
- DOID:0111512
- Description
- "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/20577567]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:3560
- Cross Reference ID (Disease Ontology)
- MESH:C562938
- Cross Reference ID (Disease Ontology)
- MIM:156250
- Cross Reference ID (Disease Ontology)
- ORDO:2499
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:205481009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0410530
- Exact Synonym (Disease Ontology)
- METCDS
- OrphaNumber from OrphaNet (Orphanet)
- 2499