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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:Erythropoietic Protoporphyria, X-Linked Dominant
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Accession:DOID:9008396 term browser browse the term
Synonyms:exact_synonym: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED;   XLDPP;   XLDPT;   XLEPP
 primary_id: MESH:C567464
 alt_id: OMIM:300752
For additional species annotation, visit the Alliance of Genome Resources.



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Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 disease_progression ISO ClinVar Annotator: match by OMIM:300752
DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)
OMIM
ClinVar
RGD
PMID:18760763 PMID:23263862 PMID:23263862 PMID:18760763 RGD:18337286, RGD:18337287 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      skin disease 2993
        Genetic Skin Diseases 1051
          Hepatic Porphyrias 19
            erythropoietic protoporphyria 8
              Erythropoietic Protoporphyria, X-Linked Dominant 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
            porphyria 23
              Hepatic Porphyrias 19
                erythropoietic protoporphyria 8
                  Erythropoietic Protoporphyria, X-Linked Dominant 1
paths to the root