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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;   Ferrochelatase Deficiencies;   Ferrochelatase Deficiency;   Heme Synthetase Deficiencies;   erythrohepatic protoporphyria;   erythropoietic protoporphyrias;   heme synthetase deficiency;   protoporphyria
 primary_id: MESH:D046351
 xref: GARD:4527;   NCI:C84698;   OMIM:PS177000;   ORDO:79278
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 ISO ClinVar Annotator: match by term: Ferrochelatase deficiency | ClinVar Annotator: match by term: Heme synthetase deficiency ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
G ABCG2A ATP binding cassette subfamily G member 2A ISO OMIM:177000 | OMIM:300752 MouseDO NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,889,684...130,945,393 		JBrowse link
G AREG amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102 		JBrowse link
G BTC betacellulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr 8:70,645,721...70,697,538
Ensembl chr 8:70,649,317...70,697,420 		JBrowse link
G EREG epiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569 		JBrowse link
G FECH ferrochelatase ISO ClinVar Annotator: match by term: Ferrochelatase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:106,861,628...106,898,407
Ensembl chr 1:106,854,011...106,898,591 		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 ISO ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
G FECH ferrochelatase ISO ClinVar Annotator: match by term: Increased erythrocyte protoporphyrin concentration | ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 OMIM
ClinVar		 PMID:1376018 PMID:1729699 PMID:1755842 PMID:3047929 PMID:3940245 More... NCBI chr 1:106,861,628...106,898,407
Ensembl chr 1:106,854,011...106,898,591 		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 chr 1:163,173,887...163,222,067
Ensembl chr 1:163,173,891...163,222,031 		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 chr 1:106,861,628...106,898,407
Ensembl chr 1:106,854,011...106,898,591 		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 DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)
ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant		 OMIM
RGD
ClinVar		 PMID:18760763 PMID:21653323 PMID:23263862 PMID:23409301 PMID:25741868 More... RGD:18337287 NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,523...47,896,000 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      endocrine system disease 5955
        liver disease 2762
          Hepatic Porphyrias 21
            erythropoietic protoporphyria 8
              Erythropoietic Protoporphyria 1 2
              Erythropoietic Protoporphyria 2 2
              Erythropoietic Protoporphyria, X-Linked Dominant 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            skin disease 3703
              Genetic Skin Diseases 1778
                Hepatic Porphyrias 21
                  erythropoietic protoporphyria 8
                    Erythropoietic Protoporphyria 1 2
                    Erythropoietic Protoporphyria 2 2
                    Erythropoietic Protoporphyria, X-Linked Dominant 1
paths to the root