loading...| Preferred Name |
mevalonic aciduria |
|
| Synonyms |
MVA mevalonic aciduria hyperimmunoglobulin D with periodic fever syndrome HIDS MKD complete mevalonate kinase deficiency Mevalonicaciduria MEVA |
|
| Definitions |
Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0012481 |
|
| has_exact_synonym |
MVA mevalonic aciduria hyperimmunoglobulin D with periodic fever syndrome HIDS MKD complete mevalonate kinase deficiency |
|
| has_related_synonym |
Mevalonicaciduria MEVA |
|
| label |
mevalonic aciduria |
|
| prefixIRI |
MONDO:0012481 |
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| prefLabel |
mevalonic aciduria |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria |
|
| textual definition |
Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. |
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| subClassOf |