{"Name":"Extramammary Paget disease","DiseaseID__c":"GARD:0004192","id":4192,"encodedName":"extramammary-paget-disease","IsDeleted":false,"Disease_Name_Full__c":"Extramammary Paget disease","Xref_IDs__c":"C0030186; C3302; D010145; MEDGEN:45280; MONDO:0008177; OMIM:167300; ORPHA:2800","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008177","Disease_Description__c":"A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.","GARD_Name__c":"Extramammary Paget disease","GARD_Synonym__c":"extramammary paget's disease; paget disease extramammary; paget disease of skin; paget disease, extramammary (except paget disease of bone); paget's disease of skin; paget's disease of the skin; paget's disease, extramammary (except paget's disease of bone); paget's skin disease","Curated_Disease_Description_Source__c":"GARD:0004192","Curated_Disease_Description__c":"Extramammary Paget disease (EMPD) is characterized by a chronic eczema-like rash of the skin around the genital regions of males and females. Under the microscope, this condition looks very similar to a condition that occurs on the breast called mammary Paget disease. The primary difference between the two is the location of the rash. While the location of the rash for individuals with mammary Paget disease is around the nipple and areolar skin, EMPD may occur in the vulva, perianal region, scrotum, penis, and axilla. About 25 percent of Extramammary Paget disease is associated with an underlying cancer.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:2800","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008177","ORPHANET_ID__c":"ORPHA:2800","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de paget extramamaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de paget extramamaria","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","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":"Extramammary Paget disease (EMPD) is characterized by a chronic eczema-like rash of the skin around the genital regions of males and females. Under the microscope, this condition looks very similar to a condition that occurs on the breast called mammary Paget disease. The primary difference between the two is the location of the rash. While the location of the rash for individuals with mammary Paget disease is around the nipple and areolar skin, EMPD may occur in the vulva, perianal region, scrotum, penis, and axilla. About 25 percent of Extramammary Paget disease is associated with an underlying cancer.","Curated_Disease_Description_Source__c":"GARD:0004192","GARD_Synonym__c":"extramammary paget's disease; paget disease extramammary; paget disease of skin; paget disease, extramammary (except paget disease of bone); paget's disease of skin; paget's disease of the skin; paget's disease, extramammary (except paget's disease of bone); paget's skin disease","Name":"Extramammary Paget disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Skin Cancer Foundation","Website__c":"https://www.skincancer.org/"},{"Account_Name__c":"MyEMPD","Website__c":"https://www.myempd.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:2800"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2800"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C010145","Source__c":"C0030186; MONDO:0008177","Xref__c":"D010145"},{"URL__c":"https://www.orpha.net/en/disease/detail/2800","Source__c":"C0030186; MONDO:0008177; ORPHA:2800","Xref__c":"ORPHA:2800"},{"URL__c":"https://www.omim.org/entry/167300","Source__c":"C0030186; MONDO:0008177; ORPHA:2800","Xref__c":"OMIM:167300"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0030186","Source__c":"C0030186","Xref__c":"C0030186"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=45280","Source__c":"C0030186","Xref__c":"MEDGEN:45280"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3302","Source__c":"C0030186; MONDO:0008177","Xref__c":"C3302"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=71447003","Source__c":"C0030186","Xref__c":"71447003"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=232336001","Source__c":"C0030186","Xref__c":"232336001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008177","Source__c":"GARD:0004192","Xref__c":"MONDO:0008177"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ERBB2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:167300","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:167300","Feature__r":{"HPO_Description__c":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000964","HPO_Synonym__c":"Eczema","HPO_Name__c":"Eczematoid dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Dermatology","Obstetrics / Gynecology"],"Disease Category":["Cancer","Dermatology","Urogenital Disorders"],"Account":["Dermatology"]},"synonyms":["extramammary paget's disease"," paget disease extramammary"," paget disease of skin"," paget disease, extramammary (except paget disease of bone)"," paget's disease of skin"," paget's disease of the skin"," paget's disease, extramammary (except paget's disease of bone)"," paget's skin disease"]}