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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:Phosphohydroxylysinuria
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Accession:DOID:9003537 term browser browse the term
Synonyms:exact_synonym: PHLU
 primary_id: OMIM:615011;   RDO:9001104
For additional species annotation, visit the Alliance of Genome Resources.


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Phosphohydroxylysinuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phykpl 5-phosphohydroxy-L-lysine phospho-lyase ISO OMIM NCBI chrNW_004955408:2,038,168...2,062,681
Ensembl chrNW_004955408:2,038,169...2,060,570
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12762
    Nutritional and Metabolic Diseases 4181
      disease of metabolism 4181
        inherited metabolic disorder 2255
          Phosphohydroxylysinuria 1
Path 2
Term Annotations click to browse term
  disease 12762
    Developmental Disease 9675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8432
        genetic disease 8008
          inherited metabolic disorder 2255
            Phosphohydroxylysinuria 1
paths to the root