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loading...| Preferred Name |
mevalonic aciduria |
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| Synonyms |
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| Definitions |
A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050452 |
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| definition |
A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. |
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| imported from | ||
| label |
mevalonic aciduria |
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| prefixIRI |
DOID:0050452 |
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| prefLabel |
mevalonic aciduria |
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| subClassOf |
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