{"Name":"Granulomatous slack skin disease","DiseaseID__c":"GARD:0010986","id":10986,"encodedName":"granulomatous-slack-skin-disease","IsDeleted":false,"Disease_Name_Full__c":"Granulomatous slack skin disease","Xref_IDs__c":"277796003; C0457002; C35464; MEDGEN:99139; MONDO:0018031; ORPHA:33111","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018031","Disease_Description__c":"Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.","GARD_Name__c":"Granulomatous slack skin disease","GARD_Synonym__c":"granulomatous slack skin","Curated_Disease_Description_Source__c":"GARD:0010986","Curated_Disease_Description__c":"Granulomatous slack skin disease (GSS) is a very rare cutaneous disorder and less than 50 cases have been reported so far. The cause of this condition is unknown but it is often associated with mycosis fungiodes and other lymphoproliferative disorders such as Hodgkin and non-Hodgkin lymphoma. Signs and symptoms include loose hanging skin and fine wrinkling of the skin or papules. These symptoms are most often located in the axilla, groin and stomach.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:33111","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018031","ORPHANET_ID__c":"ORPHA:33111","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Granuloma chalazodérmico","Spanish_Description_Source__c":"ORPHA:33111","Spanish_Description__c":"El granuloma chalazodérmico (GSS) es una variante de la micosis fungoide (MF; ver este término), un tipo de linfoma cutáneo de células T. Se caracteriza por la presencia de regiones circunscritas de piel laxa y colgante.","Spanish_Disease_Name__c":"granuloma chalazodérmico","Spanish_GARD_Synonym__c":"dermatocalasia granulomatosa","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":"Granulomatous slack skin disease (GSS) is a very rare cutaneous disorder and less than 50 cases have been reported so far. The cause of this condition is unknown but it is often associated with mycosis fungiodes and other lymphoproliferative disorders such as Hodgkin and non-Hodgkin lymphoma. Signs and symptoms include loose hanging skin and fine wrinkling of the skin or papules. These symptoms are most often located in the axilla, groin and stomach.","Curated_Disease_Description_Source__c":"GARD:0010986","GARD_Synonym__c":"granulomatous slack skin","Name":"Granulomatous slack skin disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Lymphoma Research Foundation","Website__c":"https://lymphoma.org/"}],"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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:33111"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=99139","Source__c":"C0457002","Xref__c":"MEDGEN:99139"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=277796003","Source__c":"C0457002; MONDO:0018031","Xref__c":"277796003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0457002","Source__c":"C0457002","Xref__c":"C0457002"},{"URL__c":"https://www.orpha.net/en/disease/detail/33111","Source__c":"C0457002; MONDO:0018031","Xref__c":"ORPHA:33111"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35464","Source__c":"C0457002; MONDO:0018031","Xref__c":"C35464"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018031","Source__c":"GARD:0010986","Xref__c":"MONDO:0018031"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:33111","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Wrinkled, redundant, inelastic and sagging skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000973","HPO_Synonym__c":"Chalazoderma; Cutaneous laxity; Dermatochalasia; Dermatomegaly; Elastolysis; Generalized elastolysis; Hypoelastic skin; Inelastic skin; Lax skin; Loose and inelastic skin; Loose skin; Skin laxity","HPO_Name__c":"Cutis laxa","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33111","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003072","HPO_Synonym__c":"High blood calcium levels; Hypercalcaemia; Increased calcium in blood","HPO_Name__c":"Hypercalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:33111","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33111","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural lymph node abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002733","HPO_Synonym__c":"Abnormal lymph node histology; Abnormality of the lymph nodes","HPO_Name__c":"Abnormal lymph node morphology","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33111","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001919","HPO_Synonym__c":"Acute kidney failure; Acute renal failure; AKI","HPO_Name__c":"Acute kidney injury","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33111","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An induration (hardening) of the skin","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030053","HPO_Synonym__c":"Indurated skin; Skin induration; Stiff skin","HPO_Name__c":"Stiff skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33111","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loose and sagging skin often associated with loss of skin elasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001582","HPO_Synonym__c":"Loose redundant skin; Redundant skin folds; Sagging, redundant skin","HPO_Name__c":"Redundant skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33111","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012189","HPO_Synonym__c":"Hodgkin disease; Hodgkin's lymphoma","HPO_Name__c":"Hodgkin lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33111","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002665","HPO_Synonym__c":"Cancer of lymphatic system","HPO_Name__c":"Lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33111","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Dermatology","Hematology"],"Disease Category":["Cancer","Dermatology","Hematology"],"Account":["Dermatology"]},"synonyms":["granulomatous slack skin"]}