Preferred Name |
Mevalonic aciduria |
|
Synonyms |
MEVA |
|
Definitions |
(MEVA) - Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia. |
|
ID |
http://identifiers.org/omim/610377 |
|
altLabel |
MEVA |
|
definition |
(MEVA) - Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia. |
|
id |
OMIM:610377 |
|
notation |
OMIM:610377 |
|
prefLabel |
Mevalonic aciduria |
|
subClassOf |
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