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 SNOMEDCT_US_2020_03_01:124327008 UMLS_CUI:C0342731 OMIM:610377 MESH:D054078 ICD10CM:M04.1 UMLS_CUI:C1959626 SNOMEDCT_US_2020_03_01:234538002 GARD:3588 NCI:C84890 ORDO:29 |
|
| has exact synonym |
Mevalonate Kinase Deficiency |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050452 |
|
| imported from | ||
| in_subset | ||
| label |
mevalonic aciduria |
|
| notation |
DOID:0050452 |
|
| prefLabel |
mevalonic aciduria |
|
| textual 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. |
|
| subClassOf |
The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.
Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format
Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.
Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format
References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.
Justification (optional)
Provide any additional information about the requested term here.