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ONTOLOGY REPORT - ANNOTATIONS


Term:mevalonic aciduria
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Accession:DOID:0050452 term browser browse the term
Definition:Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.
Synonyms:exact_synonym: HIDS;   Hyper IgD Syndrome;   Hyper IgD Syndromes;   Hyperimmunoglobulinemia D;   Hyperimmunoglobulinemia D And Periodic Fever Syndrome;   MEVA;   Mevalonate Kinase Deficiencies;   Mevalonate Kinase Deficiency;   Mevalonicaciduria;   Mevalonicacidurias;   Periodic Fever, Dutch Type
 primary_id: MESH:D054078;   RDO:0007652
 alt_id: OMIM:260920;   OMIM:610377
 xref: GARD:3588;   NCI:C84890;   ORDO:29
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mevalonic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9585642
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase JBrowse link 2 27,480,224 27,500,654 RGD:11554173
G Mmab metabolism of cobalamin associated B JBrowse link 12 47,920,712 47,935,438 RGD:8554872
G Mvk mevalonate kinase JBrowse link 12 47,904,266 47,920,457 RGD:7240710
RGD:11554173
RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:9585642

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  disease 15553
    Pathological Conditions, Signs and Symptoms 8019
      Signs and Symptoms 4646
        Hypergammaglobulinemia 13
          mevalonic aciduria 5
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        sensory system disease 4596
          skin disease 2462
            Genetic Skin Diseases 760
              Hereditary Autoinflammatory Diseases 94
                mevalonic aciduria 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.