Mevalonate Kinase Deficiency
Disease ID: disease_node_11830
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:3588, ICD10CM:M04.1, MESH:D054078, MIM:610377, NCI:C84890, ORDO:29, SNOMEDCT_US_2023_03_01:124327008, SNOMEDCT_US_2023_03_01:234538002, UMLS_CUI:C0342731, UMLS_CUI:C0398691, UMLS_CUI:C1959626 |
|---|---|
| Subclassof | DOID_906 |
| Data Source | DOID, MESH |
| Synonyms | Mevalonate Kinase Deficiency |
| Mesh Id | D054078 |
| Mesh Label | Mevalonate Kinase Deficiency |
| Mesh Subclassof | D006942, D020739, D056660, D018901 |
| Doid Label | mevalonic aciduria |
| Doid Description | A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_11830 |
| Doid Id | DOID_0050452 |
| Disease Has Basis In | SO_0001537 |
| Label | Mevalonate Kinase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Peroxisomal Disorders(ID:disease_node_9830) (Disease)