ONTOLOGY REPORT - ANNOTATIONS

Term:Porphyrias
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Accession:RDO:0001887 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: Porphyria
 primary_id: MESH:D011164

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Porphyrias term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alas1 aminolevulinate, delta-, synthase 1 IEP RGD:4145274 RGD
G Epo erythropoietin GBrowse link ISS 12 19,551,768 19,555,208 RGD:2313839 RGD
Coproporphyria, Hereditary term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cpox coproporphyrinogen oxidase GBrowse link ISS 11 42,748,703 42,758,686 RGD:7240710 OMIM
Porphyria Cutanea Tarda term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hfe hemochromatosis GBrowse link ISS 17 48,469,927 48,478,502 RGD:7207253 RGD
G Hfe hemochromatosis GBrowse link ISS 17 48,469,927 48,478,502 RGD:7240710 OMIM
G Urod uroporphyrinogen decarboxylase GBrowse link ISS 5 137,296,410 137,300,496 RGD:1599713 RGD
G Urod uroporphyrinogen decarboxylase GBrowse link IEP 5 137,296,410 137,300,496 RGD:4144182 RGD
G Urod uroporphyrinogen decarboxylase GBrowse link ISS 5 137,296,410 137,300,496 RGD:4145077 RGD
G Urod uroporphyrinogen decarboxylase GBrowse link ISS 5 137,296,410 137,300,496 RGD:7240710 OMIM
Porphyria, Acute Hepatic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alad aminolevulinate dehydratase GBrowse link ISS 5 79,505,645 79,515,983 RGD:7240710 OMIM
Porphyria, Acute Intermittent term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hmbs hydroxymethylbilane synthase GBrowse link ISS 8 47,314,235 47,321,604 RGD:4145271 RGD
G Hmbs hydroxymethylbilane synthase GBrowse link ISS 8 47,314,235 47,321,604 RGD:4144787 RGD
G Hmbs hydroxymethylbilane synthase GBrowse link ISS 8 47,314,235 47,321,604 RGD:7240710 OMIM
G Ppox protoporphyrinogen oxidase GBrowse link ISS 13 87,170,602 87,174,740 RGD:4145363 RGD
Porphyria, Erythropoietic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fech ferrochelatase GBrowse link ISS 18 60,675,217 60,708,418 RGD:4145285 RGD
G Fech ferrochelatase GBrowse link ISS 18 60,675,217 60,708,418 RGD:1598932 RGD
G Uros uroporphyrinogen III synthase GBrowse link ISS 1 193,184,946 193,205,475 RGD:1599715 RGD
G Uros uroporphyrinogen III synthase GBrowse link ISS 1 193,184,946 193,205,475 RGD:7240710 OMIM
Porphyria, South African type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hfe hemochromatosis GBrowse link ISS 17 48,469,927 48,478,502 RGD:7240710 OMIM
G Ppox protoporphyrinogen oxidase GBrowse link ISS 13 87,170,602 87,174,740 RGD:7240710 OMIM
Porphyria, Variegate term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hfe hemochromatosis GBrowse link ISS 17 48,469,927 48,478,502 RGD:7240710 OMIM
G Ppox protoporphyrinogen oxidase GBrowse link ISS 13 87,170,602 87,174,740 RGD:7240710 OMIM
Porphyrias, Hepatic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alad aminolevulinate dehydratase GBrowse link Susceptibility ISS 5 79,505,645 79,515,983 RGD:1599011 RGD
G Alad aminolevulinate dehydratase GBrowse link IEP 5 79,505,645 79,515,983 RGD:4144806 RGD
G Cpox coproporphyrinogen oxidase GBrowse link IEP 11 42,748,703 42,758,686 RGD:4144824 RGD
G Fech ferrochelatase GBrowse link IEP 18 60,675,217 60,708,418 RGD:4144806 RGD
G Hmbs hydroxymethylbilane synthase GBrowse link IEP 8 47,314,235 47,321,604 RGD:4144806 RGD
G Ppox protoporphyrinogen oxidase GBrowse link ISS 13 87,170,602 87,174,740 RGD:1599174 RGD
G Ppox protoporphyrinogen oxidase GBrowse link ISS 13 87,170,602 87,174,740 RGD:1599176 RGD
G Ppox protoporphyrinogen oxidase GBrowse link ISS 13 87,170,602 87,174,740 RGD:4145281 RGD
G Ppox protoporphyrinogen oxidase GBrowse link ISS 13 87,170,602 87,174,740 RGD:1599172 RGD
G Urod uroporphyrinogen decarboxylase GBrowse link ISS 5 137,296,410 137,300,496 RGD:4145290 RGD
G Urod uroporphyrinogen decarboxylase GBrowse link IEP 5 137,296,410 137,300,496 RGD:4144806 RGD
Protoporphyria, Erythropoietic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fech ferrochelatase GBrowse link ISS 18 60,675,217 60,708,418 RGD:7240710 OMIM
PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alas2 aminolevulinate, delta-, synthase 2 ISS RGD:7240710 OMIM
Term paths to the root
Path 1
Term Annotations click to browse term
  Diseases 30477
    Nutritional and Metabolic Diseases 5272
      Metabolic Diseases 4653
        Porphyrias 35
          Porphyria, Chester type 0
          Porphyria, Erythropoietic 4
          Porphyrias, Hepatic + 29
          Yusho Disease 0
Path 2
Term Annotations click to browse term
  Diseases 30477
    Nutritional and Metabolic Diseases 5272
      Metabolic Diseases 4653
        Metabolism, Inborn Errors 999
          Porphyrias 35
            Porphyria, Chester type 0
            Porphyria, Erythropoietic 4
            Porphyrias, Hepatic + 29
            Yusho Disease 0
paths to the root

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