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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:hyperlysinemia
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Accession:DOID:9274 term browser browse the term
Definition:An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. (DO)
Synonyms:exact_synonym: Familial Hyperlysinemia;   HYPERLYSINEMIA, TYPE I;   Hyperlysinuria With Hyperammonemia;   L Lysine:NAD Oxido Reductase Deficiency;   L-Lysine:NAD-oxido-reductase deficiencies;   Lysine Alpha Ketoglutarate Reductase Deficiency Disease;   Lysine:Alpha Ketoglutarate Reductase Deficiency;   familial hyperlysinemias;   hyperlysinemias;   lysine intolerance;   lysine:alpha-ketoglutarate reductase deficiencies;   periodic hyperlysinemia;   periodic hyperlysinemias
 primary_id: MESH:D020167
 alt_id: OMIM:238700;   OMIM:238750
 xref: GARD:2828;   ICD10CM:E72.3;   NCI:C123433;   ORDO:2203



show annotations for term's descendants           Sort by:
hyperlysinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperlysinemia
OMIM
CTD
ClinVar
PMID:934735 PMID:10775527 PMID:23570448 PMID:23890588 PMID:25741868 More... NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136
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Saccharopinuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aass aminoadipate-semialdehyde synthase ISO ClinVar Annotator: match by term: Saccharopinuria ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        inherited metabolic disorder 6208
          Metabolic Brain Diseases, Inborn 1323
            hyperlysinemia 1
              Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 0
              Lysine Intolerance 0
              Saccharopinuria 1
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            Metabolic Brain Diseases 1455
              Metabolic Brain Diseases, Inborn 1323
                hyperlysinemia 1
                  Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 0
                  Lysine Intolerance 0
                  Saccharopinuria 1
paths to the root