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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:mevalonic aciduria
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Accession:DOID:0050452 term browser browse the term
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. (DO)
Synonyms:exact_synonym: HIDS;   MEVA;   hyper IgD syndrome;   hyper IgD syndromes;   hyperimmunoglobulinemia D;   hyperimmunoglobulinemia D and periodic fever syndrome;   mevalonate kinase deficiencies;   mevalonate kinase deficiency;   mevalonicaciduria;   mevalonicacidurias;   periodic fever, Dutch type
 primary_id: MESH:D054078
 alt_id: OMIM:260920;   OMIM:610377
 xref: GARD:3588;   NCI:C84890;   ORDO:29

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mevalonic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein disease_progression ISO RGD PMID:7780142 RGD:9585642 NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chrNW_004936549:1,378,536...1,400,501
Ensembl chrNW_004936549:1,378,736...1,400,532 		JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Mevalonic aciduria ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936769:1,261,553...1,274,353
Ensembl chrNW_004936769:1,259,703...1,274,396 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Mevalonic aciduria | ClinVar Annotator: match by term: Periodic fever Dutch type OMIM
ClinVar		 PMID:1377680 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 More... NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Mevalonic aciduria ClinVar PMID:28492532 NCBI chrNW_004936769:1,197,596...1,248,173
Ensembl chrNW_004936769:1,197,588...1,248,200 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Hypergammaglobulinemia 17
          mevalonic aciduria 6
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6281
            skin disease 3576
              Genetic Skin Diseases 1737
                Hereditary Autoinflammatory Diseases 323
                  mevalonic aciduria 6
paths to the root