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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: OMIM: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
RGD
ClinVar		 PMID:18760763 PMID:21653323 PMID:23263862 PMID:23409301 PMID:25741868 More... RGD:18337287 NCBI chrNW_004936751:1,818,255...1,841,028
Ensembl chrNW_004936751:1,814,446...1,841,531 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        porphyria 24
          acute porphyria 20
            erythropoietic protoporphyria 7
              Erythropoietic Protoporphyria, X-Linked Dominant 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sensory system disease 6281
            skin disease 3576
              Genetic Skin Diseases 1737
                Hepatic Porphyrias 20
                  erythropoietic protoporphyria 7
                    Erythropoietic Protoporphyria, X-Linked Dominant 1
paths to the root