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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:histidine metabolism disease
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Accession:DOID:9265 term browser browse the term
Definition:An amino acid metabolic disorder that involves deficiency in histidine. (DO)
Synonyms:exact_synonym: disturbances of histidine metabolism
 xref: ICD10CM:E70.4;   ICD9CM:270.5



show annotations for term's descendants           Sort by:
histidinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hal histidine ammonia lyase ISO ClinVar Annotator: match by term: Histidinemia | ClinVar Annotator: match by term: Increased histidine
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15173056 PMID:15806399 PMID:23361591 PMID:23806086 PMID:24088041 More... NCBI chr 7:28,007,449...28,037,701
Ensembl chr 7:28,006,972...28,037,701
JBrowse link
urocanase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uroc1 urocanate hydratase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Urocanate hydratase deficiency
OMIM
CTD
ClinVar
PMID:18414213 PMID:19304569 PMID:25741868 PMID:28492532 NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591
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
          amino acid metabolic disorder 1524
            histidine metabolism disease 2
              histidinemia 1
              urocanase deficiency 1
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          inherited metabolic disorder 6208
            amino acid metabolic disorder 1524
              histidine metabolism disease 2
                histidinemia 1
                urocanase deficiency 1
paths to the root