Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 2
go back to main search page
Accession:DOID:9009003 term browser browse the term
Definition:An autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). (OMIM)
Synonyms:exact_synonym: EPP2
 broad_synonym: AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA
 primary_id: OMIM:618015

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Erythropoietic Protoporphyria 2 term browser
Symbol Object Name 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_004624781:7,320,647...7,362,403
Ensembl chrNW_004624781:7,320,604...7,362,403 		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_004624792:3,067,270...3,101,698
Ensembl chrNW_004624792:3,064,841...3,102,345 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14089
    disease of anatomical entity 13754
      endocrine system disease 5514
        liver disease 2515
          Hepatic Porphyrias 19
            erythropoietic protoporphyria 7
              Erythropoietic Protoporphyria 2 2
Path 2
Term Annotations click to browse term
  disease 14089
    disease of anatomical entity 13754
      nervous system disease 12030
        Neurologic Manifestations 8807
          sensory system disease 6154
            skin disease 3489
              Genetic Skin Diseases 1693
                Hepatic Porphyrias 19
                  erythropoietic protoporphyria 7
                    Erythropoietic Protoporphyria 2 2
paths to the root