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ONTOLOGY REPORT - ANNOTATIONS


Term:porphyria
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Accession:DOID:13268 term browser browse the term
Definition:A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.
Synonyms:exact_synonym: Hematoporphyria;   Porphyrin Disorder;   Porphyrin Disorders;   Porphyrinopathy;   disorder of porphyrin and hem metabolism;   disorder of porphyrin metabolism;   porphyrias
 primary_id: MESH:D011164;   RDO:0001887
 xref: GARD:10353
For additional species annotation, visit the Alliance of Genome Resources.


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porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alas1 5'-aminolevulinate synthase 1 JBrowse link 8 114,927,704 114,941,038 RGD:4145274
RGD:11554173
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:2313839
acute intermittent porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 JBrowse link 8 48,657,779 48,664,531 RGD:8554872
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:4145271
RGD:8554872
RGD:11554173
RGD:7240710
RGD:4144787
G Ppox protoporphyrinogen oxidase JBrowse link 13 89,650,094 89,654,998 RGD:4145363
Acute Intermittent Porphyria, Nonerythroid Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:8554872
acute porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:13592920
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:8554872
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:8554872
ALAD-Deficiency Porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:7240710
RGD:8554872
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449130
Coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:8554872
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:8554872
RGD:7240710
erythropoietic protoporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg2 ATP binding cassette subfamily G member 2 JBrowse link 4 88,765,441 88,890,268 RGD:13592920
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:13592920
G Areg amphiregulin JBrowse link 14 18,521,921 18,531,179 RGD:11554173
G Btc betacellulin JBrowse link 14 18,231,854 18,270,621 RGD:11554173
G Ereg epiregulin JBrowse link 14 18,577,620 18,591,395 RGD:11554173
G Fech ferrochelatase JBrowse link 18 59,941,992 59,975,192 RGD:7240710
RGD:8554872
RGD:11554173
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
Harderoporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:8554872
Hepatic Porphyrias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:4144806
RGD:11554173
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:4144824
G Fech ferrochelatase JBrowse link 18 59,941,992 59,975,192 RGD:4144806
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:4144806
G Ppox protoporphyrinogen oxidase JBrowse link 13 89,650,094 89,654,998 RGD:1599174
RGD:1599172
RGD:4145281
RGD:1599176
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:4145290
RGD:8554872
RGD:4144806
hepatoerythropoietic porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:8554872
hereditary coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:7240710
RGD:8554872
RGD:11554173
porphyria cutanea tarda term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:12904671
RGD:12904682
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:11554173
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:11576310
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 JBrowse link 8 62,451,360 62,458,244 RGD:11554173
RGD:11576316
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:11576316
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:7207253
RGD:8694367
RGD:8694347
RGD:7240710
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:1599713
RGD:8554872
RGD:11554173
RGD:7240710
RGD:4145077
RGD:4144182
Porphyria Cutanea Tarda, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:8554872
PROTOPORPHYRIA, ERYTHROPOIETIC, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit JBrowse link 8 70,789,137 70,843,133 RGD:8554872
RGD:7240710
variegate porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:7240710
G Ppox protoporphyrinogen oxidase JBrowse link 13 89,650,094 89,654,998 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Nutritional and Metabolic Diseases 4150
      disease of metabolism 4150
        porphyria 21
          Hepatic Porphyrias + 17
          Yusho Disease 0
          acute porphyria + 18
          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
              Hepatic Porphyrias + 17
              Yusho Disease 0
              acute porphyria + 18
              cutaneous porphyria 3
paths to the root