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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:erythropoietic protoporphyria
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Accession:DOID:13270 term browser browse the term
Definition:An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. (DO)
Synonyms:exact_synonym: EPP;   Erythropoietic Protoporphyrias;   Ferrochelatase Deficiencies;   Ferrochelatase Deficiency;   Heme Synthetase Deficiencies;   Heme Synthetase Deficiency;   erythrohepatic protoporphyria;   protoporphyria
 primary_id: MESH:D046351
 xref: GARD:4527;   NCI:C84698;   OMIM:PS177000;   ORDO:79278
For additional species annotation, visit the Alliance of Genome Resources.


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erythropoietic protoporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 (Langereis blood group) ISO ClinVar Annotator: match by term: Ferrochelatase deficiency ClinVar PMID:22958180 PMID:28492532 NCBI chrNW_004955453:14,215,104...14,222,338
Ensembl chrNW_004955453:14,215,408...14,222,172
JBrowse link
G Areg amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chrNW_004955474:680,212...689,021
Ensembl chrNW_004955474:680,204...689,088
JBrowse link
G Btc betacellulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chrNW_004955474:895,573...946,152
Ensembl chrNW_004955474:895,573...946,894
JBrowse link
G Ereg epiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chrNW_004955474:612,440...627,606
Ensembl chrNW_004955474:612,440...627,606
JBrowse link
G Fech ferrochelatase ISO DNA:mutations:introns:IVS-48C,IVS1-23T(human)
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:mutation:introns:IVS3-48C(human)
DNA:mutations:exons:
RGD
CTD
PMID:10464147 PMID:10942404 PMID:12950064 PMID:15284838 PMID:15793285 More... RGD:11556165 RGD:14700883 RGD:14700886 RGD:14700889 NCBI chrNW_004955402:41,902,868...41,938,099
Ensembl chrNW_004955402:41,902,868...41,938,174
JBrowse link
Erythropoietic Protoporphyria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 (Langereis blood group) ISO ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chrNW_004955453:14,215,104...14,222,338
Ensembl chrNW_004955453:14,215,408...14,222,172
JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 OMIM
ClinVar
PMID:1376018 PMID:1729699 PMID:1755842 PMID:3047929 PMID:3940245 More... NCBI chrNW_004955402:41,902,868...41,938,099
Ensembl chrNW_004955402:41,902,868...41,938,174
JBrowse link
Erythropoietic Protoporphyria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28874591 NCBI chrNW_004955450:10,256,124...10,289,832
Ensembl chrNW_004955450:10,256,124...10,289,832
JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria ClinVar PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:16958804 More... NCBI chrNW_004955402:41,902,868...41,938,099
Ensembl chrNW_004955402:41,902,868...41,938,174
JBrowse link
Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 disease_progression ISO ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant
DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)
OMIM
ClinVar
RGD
PMID:18760763 PMID:23263862 RGD:18337287 NCBI chrNW_004955475:2,362,368...2,382,680
Ensembl chrNW_004955475:2,362,118...2,377,864
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13345
    Nutritional and Metabolic Diseases 5276
      disease of metabolism 5276
        porphyria 21
          acute porphyria 17
            erythropoietic protoporphyria 7
              Erythropoietic Protoporphyria 1 2
              Erythropoietic Protoporphyria 2 2
              Erythropoietic Protoporphyria, X-Linked Dominant 1
Path 2
Term Annotations click to browse term
  disease 13345
    Developmental Disease 10857
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9742
        genetic disease 9396
          inherited metabolic disorder 3663
            porphyria 21
              acute porphyria 17
                erythropoietic protoporphyria 7
                  Erythropoietic Protoporphyria 1 2
                  Erythropoietic Protoporphyria 2 2
                  Erythropoietic Protoporphyria, X-Linked Dominant 1
paths to the root