Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
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

http://purl.obolibrary.org/obo/OGMS_0000031

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