ONTOLOGY REPORT - ANNOTATIONS


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
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Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    sensory system disease 4270
      skin disease 2272
        Genetic Skin Diseases 584
          Hepatic Porphyrias 17
            erythropoietic protoporphyria 7
              Erythropoietic Protoporphyria, X-Linked Dominant 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        genetic disease 6469
          inherited metabolic disorder 1829
            porphyria 21
              Hepatic Porphyrias 17
                erythropoietic protoporphyria 7
                  Erythropoietic Protoporphyria, X-Linked Dominant 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.