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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;   Hyperimmunoglobulinemia D And Periodic Fever Syndrome;   MEVA;   hyper IgD syndrome;   hyper IgD syndromes;   hyperimmunoglobulinemia D;   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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 chr13:85,131,635...85,175,179 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 2:27,997,523...28,018,983 JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Mevalonic aciduria
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D
ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,496 JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Periodic fever Dutch type
ClinVar Annotator: match by term: Mevalonic aciduria
ClinVar Annotator: match by term: Mevalonate kinase deficiency
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610377
ClinVar Annotator: match by OMIM:260920
OMIM
ClinVar
CTD
PMID:1377680 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313768 PMID:11313769 PMID:12387810 PMID:12444096 PMID:12477733 PMID:12563048 PMID:12634869 PMID:13130485 PMID:15188372 PMID:15457465 PMID:15536479 PMID:15804303 PMID:16197847 PMID:16199547 PMID:16255052 PMID:16435210 PMID:16707534 PMID:16835861 PMID:17105862 PMID:17576681 PMID:17596604 PMID:18008182 PMID:18414213 PMID:19011501 PMID:19786432 PMID:19877056 PMID:20194276 PMID:21225694 PMID:21228398 PMID:21399979 PMID:21425920 PMID:21478439 PMID:21548022 PMID:21708801 PMID:22038276 PMID:22246419 PMID:22566169 PMID:22983302 PMID:23006543 PMID:23146290 PMID:23692791 PMID:23707710 PMID:23834120 PMID:23979089 PMID:23998246 PMID:24033266 PMID:24073415 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24531851 PMID:24561416 PMID:25708585 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26202976 PMID:26299986 PMID:26386126 PMID:26409462 PMID:26633545 PMID:26935981 PMID:26977311 PMID:27012807 PMID:27142780 PMID:27213830 PMID:27377765 PMID:28095071 PMID:28492532 PMID:28501347 PMID:28814775 PMID:29047407 PMID:30148429 PMID:31096039 PMID:31474985 NCBI chr12:42,141,391...42,158,858 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chr20:3,622,011...3,624,629 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    Pathological Conditions, Signs and Symptoms 10225
      Signs and Symptoms 6480
        Hypergammaglobulinemia 17
          mevalonic aciduria 5
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      nervous system disease 12095
        central nervous system disease 10374
          brain disease 9732
            Metabolic Brain Diseases 610
              Metabolic Brain Diseases, Inborn 540
                mevalonic aciduria 5
paths to the root