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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:histidinemia
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Accession:DOID:0060168 term browser browse the term
Definition:A histidine metabolism disease characterized by a deficiency of the enzyme histidase. (DO)
Synonyms:exact_synonym: Deficiency in Histidase;   HAL Deficiency;   HIS DEFICIENCY;   Histidase deficiency;   Histidine ammonia-lyase deficiency;   Hyperhistidinemia;   histidinuria;   increased histidine
 primary_id: MESH:C538320
 alt_id: OMIM:235800;   RDO:0004282
 xref: GARD:6661
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:235800
ClinVar Annotator: match by term: Increased histidine
ClinVar Annotator: match by term: Histidinemia
OMIM
ClinVar
PMID:15173056, PMID:15806399, PMID:23361591, PMID:23806086, PMID:24088041, PMID:24725463, PMID:25575548, PMID:27453504, PMID:28492532 NCBI chr 7:34,326,087...34,356,413
Ensembl chr 7:34,326,087...34,356,413
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            histidinemia 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              histidine metabolism disease 1
                histidinemia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.