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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.


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 (Langereis blood group) IAGP ClinVar Annotator: match by term: Ferrochelatase deficiency ClinVar PMID:22958180 PMID:28492532 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994 		JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) ISS OMIM:177000 | OMIM:300752 MouseDO NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 IEA OMIM:177000 | OMIM:300752 MouseDO NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977 		JBrowse link
G AREG amphiregulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr 4:74,445,136...74,455,005
Ensembl chr 4:74,445,136...74,455,005 		JBrowse link
G BTC betacellulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr 4:74,744,759...74,794,523
Ensembl chr 4:74,744,759...74,794,523 		JBrowse link
G EREG epiregulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr 4:74,365,145...74,388,749
Ensembl chr 4:74,365,145...74,388,749 		JBrowse link
G FECH ferrochelatase EXP
ISO
IAGP		 CTD Direct Evidence: marker/mechanism|therapeutic
DNA:mutations:exons:
DNA:mutation:introns:IVS3-48C(human)
DNA:mutations:introns:IVS-48C,IVS1-23T(human) 		CTD
RGD		 PMID:10464147 PMID:12950064 PMID:15284838 PMID:15793285 PMID:17600043 More... RGD:14700889, RGD:14700886, RGD:14700883, RGD:11556165 NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732 		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) IAGP ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994 		JBrowse link
G FECH ferrochelatase IAGP ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 OMIM
ClinVar		 PMID:1376018 PMID:1729699 PMID:1755842 PMID:3047929 PMID:3940245 More... NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732 		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 IAGP ClinVar Annotator: match by term: PROTOPORPHYRIA, ERYTHROPOIETIC, 2
ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28874591 NCBI chr15:65,148,219...65,185,342
Ensembl chr15:65,148,219...65,185,342 		JBrowse link
G FECH ferrochelatase IAGP ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria ClinVar PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:16958804 More... NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732 		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 IAGP ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant
DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)
ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED		 ClinVar
OMIM
RGD		 PMID:18760763 PMID:23263862 PMID:18760763 PMID:23263862 RGD:18337287, RGD:18337286 NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21668
    Nutritional and Metabolic Diseases 7358
      disease of metabolism 7358
        porphyria 24
          acute porphyria 19
            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 21668
    Developmental Disease 16083
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13666
        genetic disease 13210
          inherited metabolic disorder 4926
            porphyria 24
              acute porphyria 19
                erythropoietic protoporphyria 8
                  Erythropoietic Protoporphyria 1 2
                  Erythropoietic Protoporphyria 2 2
                  Erythropoietic Protoporphyria, X-Linked Dominant 1
paths to the root