{"Name":"Erythropoietic protoporphyria","DiseaseID__c":"GARD:0007476","id":7476,"encodedName":"erythropoietic-protoporphyria","IsDeleted":false,"Disease_Name_Full__c":"Erythropoietic protoporphyria","Xref_IDs__c":"51022005; C0162568; C84698; D046351; DOID:13270; MEDGEN:56455; MONDO:0001676; OMIMPS:177000; ORPHA:659681","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0001676","Disease_Description__c":"A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.","GARD_Name__c":"Erythropoietic protoporphyria","GARD_Synonym__c":"epp; epp - erythropoietic protoporphyria; epp (erythropoietic protoporphyria porphyria); erythrohepatic protoporphyria; magnus syndrome; protoporphyria","Curated_Disease_Description_Source__c":"MONDO:0001676","Curated_Disease_Description__c":"A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0001676","ORPHANET_ID__c":"ORPHA:659681","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Porfiria eritropoyética","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"porfiria eritropoyética","Spanish_GARD_Synonym__c":"pep","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.","Curated_Disease_Description_Source__c":"MONDO:0001676","GARD_Synonym__c":"epp; epp - erythropoietic protoporphyria; epp (erythropoietic protoporphyria porphyria); erythrohepatic protoporphyria; magnus syndrome; protoporphyria","Name":"Erythropoietic protoporphyria","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"},{"Account_Name__c":"American Porphyria Foundation","Website__c":"https://porphyriafoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=51022005","Source__c":"C0162568; MONDO:0001676","Xref__c":"51022005"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13270","Source__c":"MONDO:0001676","Xref__c":"DOID:13270"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS177000","Source__c":"MONDO:0001676","Xref__c":"OMIMPS:177000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C046351","Source__c":"C0162568; MONDO:0001676","Xref__c":"D046351"},{"URL__c":"https://www.orpha.net/en/disease/detail/659681","Source__c":"MONDO:0001676","Xref__c":"ORPHA:659681"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0162568","Source__c":"C0162568","Xref__c":"C0162568"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=56455","Source__c":"C0162568","Xref__c":"MEDGEN:56455"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84698","Source__c":"C0162568","Xref__c":"C84698"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0001676","Source__c":"GARD:0007476","Xref__c":"MONDO:0001676"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Dermatology"],"Account":["Nephrology","Dermatology"]},"synonyms":["epp"," epp - erythropoietic protoporphyria"," epp (erythropoietic protoporphyria porphyria)"," erythrohepatic protoporphyria"," magnus syndrome"," protoporphyria"]}