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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 ClinVar Annotator: match by OMIM:615011 OMIM
ClinVar
PMID:23242558 NCBI chr10:35,839,965...35,863,631
Ensembl chr10:35,839,983...35,859,508
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          Phosphohydroxylysinuria 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            Phosphohydroxylysinuria 1
paths to the root