{"Name":"Nodular non-suppurative panniculitis","DiseaseID__c":"GARD:0007879","id":7879,"encodedName":"nodular-non-suppurative-panniculitis","IsDeleted":false,"Disease_Name_Full__c":"Nodular non-suppurative panniculitis","Xref_IDs__c":"33760009; C0030328; C197537; D010201; DOID:1525; MEDGEN:10559; MONDO:0018063; ORPHA:33577","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018063","Disease_Description__c":"A rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.","GARD_Name__c":"Nodular non-suppurative panniculitis","GARD_Synonym__c":"idiopathic lobular panniculitis; idiopathic nodular panniculitis; nodular non-suppurative febrile panniculitis; nodular nonsuppurative panniculitis; panniculitis nodular nonsuppurative; pfeiffer-weber-christian syndrome; relapsing febrile nodular nonsuppurative panniculitis; relapsing febrile nodular panniculitis; relapsing panniculitis; systemic nodular panniculitis; wcd; weber - christian disease; weber christian panniculitis; weber-christian disease; weber-christian panniculitis; weber-kindler syndrome","Curated_Disease_Description_Source__c":"GARD:0007879","Curated_Disease_Description__c":"Nodular nonsuppurative panniculitis describes a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet. In most people, this condition is associated with fever, a general feeling of ill health (malaise), muscle pain, and/or abdominal pain. The exact cause of Nodular nonsuppurative panniculitis is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:33577","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018063","ORPHANET_ID__c":"ORPHA:33577","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paniculitis nodular no supurativa","Spanish_Description_Source__c":"ORPHA:33577","Spanish_Description__c":"Es un trastorno cutáneo poco frecuente caracterizado por una inflamación recurrente en la capa de grasa subcutánea.","Spanish_Disease_Name__c":"paniculitis nodular no supurativa","Spanish_GARD_Synonym__c":"enfermedad de weber-christian (wcd); paniculitis febril nodular recurrente; paniculitis febril nodular recurrente no supurativa; paniculitis idiopática lobular; paniculitis idiopática nodular; síndrome de pfeiffer-weber-christian","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":"Nodular nonsuppurative panniculitis describes a rare group of skin disorders characterized by tender, painful bumps below the surface of the skin (subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters in length and most often affect the legs and feet. In most people, this condition is associated with fever, a general feeling of ill health (malaise), muscle pain, and/or abdominal pain. The exact cause of Nodular nonsuppurative panniculitis is unknown.","Curated_Disease_Description_Source__c":"GARD:0007879","GARD_Synonym__c":"idiopathic lobular panniculitis; idiopathic nodular panniculitis; nodular non-suppurative febrile panniculitis; nodular nonsuppurative panniculitis; panniculitis nodular nonsuppurative; pfeiffer-weber-christian syndrome; relapsing febrile nodular nonsuppurative panniculitis; relapsing febrile nodular panniculitis; relapsing panniculitis; systemic nodular panniculitis; wcd; weber - christian disease; weber christian panniculitis; weber-christian disease; weber-christian panniculitis; weber-kindler syndrome","Name":"Nodular non-suppurative panniculitis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.org/"}],"GARD_Disease_Tag__c":[{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:33577"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1525","Source__c":"MONDO:0018063","Xref__c":"DOID:1525"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=10559","Source__c":"C0030328","Xref__c":"MEDGEN:10559"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0030328","Source__c":"C0030328","Xref__c":"C0030328"},{"URL__c":"https://www.orpha.net/en/disease/detail/33577","Source__c":"C0030328; MONDO:0018063; ORPHA:33577","Xref__c":"ORPHA:33577"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C010201","Source__c":"C0030328; MONDO:0018063","Xref__c":"D010201"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=33760009","Source__c":"C0030328; MONDO:0018063","Xref__c":"33760009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018063","Source__c":"GARD:0007879","Xref__c":"MONDO:0018063"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C197537","Source__c":"C0030328","Xref__c":"C197537"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008065","HPO_Synonym__c":"Absent/small skin; Absent/underdeveloped skin","HPO_Name__c":"Aplasia/Hypoplasia of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of subcutaneous adipose tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012490","HPO_Synonym__c":"Inflammation of adipose tissue; Inflammation of fat tissue","HPO_Name__c":"Panniculitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the eye, parts of the eye or the periorbital region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100533","HPO_Synonym__c":"Inflammatory abnormality of the eye; Ocular inflammation","HPO_Name__c":"Inflammatory abnormality of the eye","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33577","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology"]},"synonyms":["idiopathic lobular panniculitis"," idiopathic nodular panniculitis"," nodular non-suppurative febrile panniculitis"," nodular nonsuppurative panniculitis"," panniculitis nodular nonsuppurative"," pfeiffer-weber-christian syndrome"," relapsing febrile nodular nonsuppurative panniculitis"," relapsing febrile nodular panniculitis"," relapsing panniculitis"," systemic nodular panniculitis"," wcd"," weber - christian disease"," weber christian panniculitis"," weber-christian disease"," weber-christian panniculitis"," weber-kindler syndrome"]}