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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;   XLEPP;   Xldpt
 primary_id: MESH:C567464
 alt_id: OMIM:300752;   RDO:0008649;   RDO:0015528
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
PMID:18760763, PMID:23263862, PMID:23263862, PMID:18760763 RGD:18337286, RGD:18337287 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      skin disease 2758
        Genetic Skin Diseases 890
          Hepatic Porphyrias 18
            erythropoietic protoporphyria 7
              Erythropoietic Protoporphyria, X-Linked Dominant 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          inherited metabolic disorder 2231
            porphyria 21
              Hepatic Porphyrias 18
                erythropoietic protoporphyria 7
                  Erythropoietic Protoporphyria, X-Linked Dominant 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.