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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:HRPT-related hyperuricemia
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Accession:DOID:0112127 term browser browse the term
Definition:A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in HPRT1 on chromosome Xq26.2-q26.3. (DO)
Synonyms:exact_synonym: Gout, HPRT-Related;   HPRT deficiency, grade I;   HPRT-related hyperuricemia;   Kelley-Seegmiller syndrome;   hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial;   hypoxanthine guanine phosphoribosyltransferase deficiency, grade I;   hypoxanthine guanine phosphoribosyltransferase partial deficiency;   partial HPRT deficiency;   partial HPRT1 deficiency
 primary_id: MESH:C562583
 alt_id: OMIM:300323
 xref: ORDO:79233
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
HRPT-related hyperuricemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr 1:95,626,727...95,639,808
Ensembl chr 1:95,613,558...95,640,131
JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431
JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:131,868,983...132,236,837
Ensembl chr  X:131,868,990...132,236,798
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
ClinVar Annotator: match by term: HPRT-related hyperuricemia
ClinVar Annotator: match by term: KELLEY-SEEGMILLER SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300323
OMIM
ClinVar
CTD
PMID:1301916 PMID:1551676 PMID:1934271 PMID:1937471 PMID:2071157 More... NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Mir106a microRNA 106a ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,422,584...132,422,661
Ensembl chr  X:132,422,584...132,422,661
JBrowse link
G Mir19b2 microRNA 19b-2 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,422,072...132,422,167
Ensembl chr  X:132,422,072...132,422,167
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Pathological Conditions, Signs and Symptoms 10235
      Pathologic Processes 6699
        hyperuricemia 27
          HRPT-related hyperuricemia 7
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          bone disease 3106
            bone inflammation disease 962
              arthritis 934
                gout 27
                  HRPT-related hyperuricemia 7
paths to the root