ONTOLOGY REPORT - ANNOTATIONS


Term:cutaneous porphyria
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Accession:DOID:13271 term browser browse the term
Definition:An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
Synonyms:exact_synonym: CEP;   Congenital Erythropoietic Porphyrias;   Deficiency of Uroporphyrinogen III Synthase;   Erythropoietic Porphyrias;   Gunther Disease;   Gunther's Disease;   Gunthers Disease;   Porphyria, Erythropoietic;   UROPORPHYRINOGEN III SYNTHASE DEFICIENCY;   UROS deficiency;   congenital erythropoietic porphyria
 primary_id: MESH:D017092
 alt_id: OMIM:263700;   RDO:0007025
 xref: GARD:4446
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cutaneous porphyria 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:11035240
G Fech ferrochelatase JBrowse link 18 59,941,992 59,975,192 RGD:1598932
RGD:4145285
G Uros uroporphyrinogen III synthase JBrowse link 1 205,755,766 205,778,170 RGD:1599715
RGD:7240710
RGD:8554872

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  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        porphyria 21
          cutaneous porphyria 3
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            porphyria 21
              cutaneous porphyria 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.