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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
 broad_synonym: ALAS2-RELATED CONDITION
 primary_id: MESH:C567464
 alt_id: MIM:300752
 xref: EFO:0009064


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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 DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)
ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant		 OMIM
ClinVar
RGD		 PMID:18760763 PMID:21653323 PMID:23263862 PMID:23409301 PMID:25741868 More... RGD:18337286, RGD:18337287 NCBI chr  X:19,463,146...19,486,526 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Nutritional and Metabolic Diseases 8543
      disease of metabolism 8543
        porphyria 26
          acute porphyria 22
            erythropoietic protoporphyria 8
              Erythropoietic Protoporphyria, X-Linked Dominant 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        Neurologic Manifestations 10448
          sensory system disease 7376
            skin disease 4320
              Genetic Skin Diseases 1889
                Hepatic Porphyrias 22
                  erythropoietic protoporphyria 8
                    Erythropoietic Protoporphyria, X-Linked Dominant 1
paths to the root