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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;   mevalonate kinase deficiencies;   mevalonate kinase deficiency;   mevalonicaciduria;   mevalonicacidurias
 xref: GARD:3588;   MESH:D054078;   MIM:610377;   MONDO:0012481;   NCI:C84890;   ORDO:29


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 chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		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
Ensembl chr 2:27,997,525...28,019,703 		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 chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Mvk mevalonate kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mevalonic aciduria		 OMIM
CTD
ClinVar		 PMID:1377680 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 More... NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		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
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Mevalonic aciduria ClinVar PMID:28492532 NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Pathological Conditions, Signs and Symptoms 13511
      Signs and Symptoms 11070
        Hypergammaglobulinemia 20
          mevalonic aciduria 6
Path 2
Term Annotations click to browse term
  disease 19065
    Pathological Conditions, Signs and Symptoms 13511
      Signs and Symptoms 11070
        Neurologic Manifestations 10322
          sensory system disease 7235
            skin disease 4183
              Genetic Skin Diseases 1882
                Hereditary Autoinflammatory Diseases 362
                  mevalonic aciduria 6
paths to the root