Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


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 OMIM:235800
ClinVar Annotator: match by term: Increased histidine
OMIM
ClinVar
PMID:15173056 PMID:15806399 PMID:23361591 PMID:23806086 PMID:24088041 PMID:24725463 PMID:25575548 PMID:25741868 PMID:27453504 PMID:28492532 NCBI chr 7:34,326,087...34,356,413
Ensembl chr 7:34,326,087...34,356,413
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 4:122,244,744...122,276,357
Ensembl chr 4:122,244,711...122,276,361
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2358
          amino acid metabolic disorder 448
            histidine metabolism disease 2
              histidinemia 1
              urocanase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          inherited metabolic disorder 2358
            amino acid metabolic disorder 448
              histidine metabolism disease 2
                histidinemia 1
                urocanase deficiency 1
paths to the root