loading...| Preferred Name |
mevalonic aciduria |
|
| Synonyms |
Mevalonate Kinase Deficiency |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0050452 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
UMLS_CUI:C0398691 UMLS_CUI:C0342731 OMIM:610377 MESH:D054078 SNOMEDCT_US_2023_03_01:234538002 ICD10CM:M04.1 SNOMEDCT_US_2023_03_01:124327008 UMLS_CUI:C1959626 GARD:3588 NCI:C84890 ORDO:29 |
|
| definition |
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. |
|
| disease has basis in | ||
| has exact synonym |
Mevalonate Kinase Deficiency |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050452 |
|
| in_subset | ||
| label |
mevalonic aciduria |
|
| notation |
DOID:0050452 |
|
| prefLabel |
mevalonic aciduria |
|
| subClassOf |