{"Name":"Erythropoietic uroporphyria associated with myeloid malignancy","DiseaseID__c":"GARD:0010948","id":10948,"encodedName":"erythropoietic-uroporphyria-associated-with-myeloid-malignancy","IsDeleted":false,"Disease_Name_Full__c":"Erythropoietic uroporphyria associated with myeloid malignancy","Xref_IDs__c":"783615009; C5191004; MEDGEN:1679887; MONDO:0017231; ORPHA:280379","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:280379","Disease_Description__c":"A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.","GARD_Name__c":"Erythropoietic uroporphyria associated with myeloid malignancy","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:280379","Curated_Disease_Description__c":"A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:280379","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017231","ORPHANET_ID__c":"ORPHA:280379","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Uroporfiria eritropoyética asociada a neoplasias mieloides","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"uroporfiria eritropoyética asociada a neoplasias mieloides","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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 porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.","Curated_Disease_Description_Source__c":"ORPHA:280379","Name":"Erythropoietic uroporphyria associated with myeloid malignancy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:280379"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5191004","Source__c":"C5191004","Xref__c":"C5191004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1679887","Source__c":"C5191004","Xref__c":"MEDGEN:1679887"},{"URL__c":"https://www.orpha.net/en/disease/detail/280379","Source__c":"C5191004; MONDO:0017231; ORPHA:280379","Xref__c":"ORPHA:280379"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017231","Source__c":"GARD:0010948","Xref__c":"MONDO:0017231"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783615009","Source__c":"C5191004","Xref__c":"783615009"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Dermatology"],"Account":["Nephrology","Dermatology"]},"synonyms":[""]}