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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
 related_synonym: HFE POLYMORPHISM
 primary_id: MESH:D011164;   RDO:0001887
 xref: GARD:10353;   ICD10CM:E80.20;   ICD9CM:277.1;   NCI:C97096
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
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:8554872
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:21081511
acute intermittent 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:18337288
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:19165346
RGD:21079461
RGD:19165358
RGD:21079460
RGD:21079459
RGD:21079458
RGD:21079457
RGD:21079456
RGD:21079455
RGD:21079454
RGD:21079453
RGD:19165351
RGD:21079452
RGD:19165352
RGD:19165353
RGD:21079451
RGD:21079450
RGD:21079449
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
RGD:19165350
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:18937001
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:11554173
RGD:14700889
RGD:14700886
RGD:14700883
RGD:11556165
Erythropoietic Protoporphyria 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fech ferrochelatase JBrowse link 18 59,941,992 59,975,192 RGD:7240710
RGD:8554872
Erythropoietic Protoporphyria 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X JBrowse link 8 70,789,137 70,843,133 RGD:8554872
RGD:7240710
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:18337287
RGD:18337286
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
RGD:7240710
RGD:25671431
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:25671430
RGD:25671429
RGD:25671428
RGD:21079461
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:8554872
RGD:11554173
RGD:14701050
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
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
RGD:8554872
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 16021
    Nutritional and Metabolic Diseases 4644
      disease of metabolism 4644
        porphyria 21
          Hepatic Porphyrias + 18
          Yusho Disease 0
          acute porphyria + 18
          cutaneous porphyria 3
Path 2
Term Annotations click to browse term
  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        genetic disease 7689
          inherited metabolic disorder 2179
            porphyria 21
              Hepatic Porphyrias + 18
              Yusho Disease 0
              acute porphyria + 18
              cutaneous porphyria 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.