Mulibrey Nanism
Disease ID: disease_node_11448
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:95, MESH:D050336, MIM:253250, NCI:C84906, ORDO:2576, SNOMEDCT_US_2023_03_01:81604003, UMLS_CUI:C0524582 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | MUL, Mulibrey growth disorder, Muscle-Liver-Brain-Eye Nanism, PERICARDIAL CONSTRICTION AND GROWTH FAILURE, Perheentupa Syndrome |
| Mesh Id | D050336 |
| Mesh Label | Mulibrey Nanism |
| Mesh Subclassof | D004392 |
| Doid Label | mulibrey ism |
| Doid Description | A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_11448 |
| Doid Id | DOID_0050436 |
| Label | Mulibrey Nanism |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)