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loading...| Preferred Name |
Mevalonate Kinase Deficiency [Disease/Finding] |
|
| Synonyms |
Mevalonate Kinase Deficiency |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181132 |
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| altLabel |
Mevalonate Kinase Deficiency |
|
| cui |
C0342731 |
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| May be treated by | ||
| 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 name |
Mevalonate Kinase Deficiency |
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| MESH UI |
M0501212 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000181132 |
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| NUI |
N0000181132 |
|
| prefLabel |
Mevalonate Kinase Deficiency [Disease/Finding] |
|
| tui |
T047 |
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| subClassOf |
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