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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0012481 |
|
| closeMatch | ||
| database_cross_reference |
NCIT:C84890 MedDRA:10072219 UMLS:C1959626 SCTID:718558008 GARD:3588 DOID:0050452 Orphanet:29 OMIM:610377 UMLS:C0398691 |
|
| 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. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0050452 http://purl.obolibrary.org/obo/Orphanet_29 http://linkedlifedata.com/resource/umls/id/C1959626 |
|
| has_exact_synonym |
MVA mevalonic aciduria hyperimmunoglobulin D with periodic fever syndrome HIDS MKD complete mevalonate kinase deficiency |
|
| has_related_synonym |
Mevalonicaciduria MEVA |
|
| id |
MONDO:0012481 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar |
|
| label |
mevalonic aciduria |
|
| notation |
MONDO:0012481 |
|
| prefLabel |
mevalonic aciduria |
|
| see also |
https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria |
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| excluded_subClassOf | ||
| subClassOf |