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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000181132
http://purl.bioontology.org/ontology/NDFRT/N0000181132
|
|---|---|
| Preferred Name | Mevalonate Kinase Deficiency [Disease/Finding] |
| Synonyms |
Mevalonate Kinase Deficiency
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | Mevalonate Kinase Deficiency
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|---|---|
| prefLabel | Mevalonate Kinase Deficiency [Disease/Finding]
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| MESH DEFINITION | Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.
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| MESH DUI | D054078
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| MESH UI | M0501212
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| MeSH name | Mevalonate Kinase Deficiency
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| type | |
| tui | T047
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| May be treated by | |
| notation | N0000181132
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| Semantic type UMLS property | |
| NUI | N0000181132
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| cui | C0342731
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| NDFRT kind | DISEASE_KIND
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |