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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
For additional species annotation, visit the Alliance of Genome Resources.


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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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Term Annotations click to browse term
  disease 14759
    Nutritional and Metabolic Diseases 4150
      disease of metabolism 4150
        porphyria 21
          cutaneous porphyria 3
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          inherited metabolic disorder 1807
            porphyria 21
              cutaneous porphyria 3
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