{"Name":"Acute febrile neutrophilic dermatosis","DiseaseID__c":"GARD:0000521","id":521,"encodedName":"acute-febrile-neutrophilic-dermatosis","IsDeleted":false,"Disease_Name_Full__c":"Acute febrile neutrophilic dermatosis","Xref_IDs__c":"84625002; C0085077; C85177; D016463; DOID:0080746; MEDGEN:43097; MONDO:0011959; OMIM:608068; ORPHA:3243","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011959","Disease_Description__c":"A rare inflammatory disease characterized by abrupt appearance of painful, edematous and erythematous papules, plaques and nodules on the skin, and frequently accompanied by fever and neutrophilia with a dense infiltration of mature neutrophils that are typically located in the upper dermis. The disease is classically associated with inflammatory disease, pregnancy, infection (mostly of the upper respiratory tract), or vaccination but may be idiopathic, associated with a hematological or visceral malignancy, or drug-induced.","GARD_Name__c":"Acute febrile neutrophilic dermatosis","GARD_Synonym__c":"afnd; febrile neutrophilic dermatosis; gomm button disease; sweet disease; sweet syndrome","Curated_Disease_Description_Source__c":"GARD:0000521","Curated_Disease_Description__c":"Sweet syndrome is a skin condition characterized by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, older adults and even infants. The exact cause of Sweet syndrome often isn't known. It is suspected that it can be a reaction of the body to certain exposures (sun), infections (Streptococcus bacteria, Campylobacter), or medications (azathioprine, nonsteroidal anti-inflammatory medications). This condition can also occur with some types of cancer and other serious health problems.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:3243","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011959","ORPHANET_ID__c":"ORPHA:3243","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sweet","Spanish_Description_Source__c":"ORPHA:3243","Spanish_Description__c":"Es una enfermedad inflamatoria poco frecuente caracterizada por la aparición repentina de pápulas, placas y nódulos dolorosos, edematosos y eritematosos en la piel, y frecuentemente acompañada de fiebre y neutrofilia, con un denso inflitrado de neutrófilos maduros que se localizan típicamente en la dermis superior. El síndrome se asocia clásicamente con enfermedad inflamatoria, embarazo, infección (principalmente de las vías respiratorias superiores) o vacunación, pero puede ser idiopático, estar asociado a una neoplasia maligna hematológica o visceral o haber sido inducido por fármacos.","Spanish_Disease_Name__c":"síndrome de sweet","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":"Sweet syndrome is a skin condition characterized by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, older adults and even infants. The exact cause of Sweet syndrome often isn't known. It is suspected that it can be a reaction of the body to certain exposures (sun), infections (Streptococcus bacteria, Campylobacter), or medications (azathioprine, nonsteroidal anti-inflammatory medications). This condition can also occur with some types of cancer and other serious health problems.","Curated_Disease_Description_Source__c":"GARD:0000521","GARD_Synonym__c":"afnd; febrile neutrophilic dermatosis; gomm button disease; sweet disease; sweet syndrome","Name":"Acute febrile neutrophilic dermatosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Sweet's Syndrome UK","Website__c":"https://helpforsweetssyndromeuk.wordpress.com/"},{"Account_Name__c":"Rare Autoinflammatory Conditions Community - UK","Website__c":"https://www.raccuk.com/"}],"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":"Rheumatology","Tag_Category__c":"Specialist"},{"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:3243"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0085077"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000521","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=43097","Source__c":"C0085077","Xref__c":"MEDGEN:43097"},{"URL__c":"https://www.orpha.net/en/disease/detail/3243","Source__c":"C0085077; MONDO:0011959; ORPHA:3243","Xref__c":"ORPHA:3243"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0085077","Source__c":"C0085077","Xref__c":"C0085077"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080746","Source__c":"MONDO:0011959","Xref__c":"DOID:0080746"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016463","Source__c":"C0085077; MONDO:0011959","Xref__c":"D016463"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85177","Source__c":"C0085077; MONDO:0011959","Xref__c":"C85177"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=84625002","Source__c":"C0085077; MONDO:0011959","Xref__c":"84625002"},{"URL__c":"https://www.omim.org/entry/608068","Source__c":"C0085077; MONDO:0011959; ORPHA:3243","Xref__c":"OMIM:608068"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011959","Source__c":"GARD:0000521","Xref__c":"MONDO:0011959"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MEFV","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mefv","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Collection of neutrophils in the dermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031236","HPO_Name__c":"Predominantly dermal neutrophilic infiltrate","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of an interleukin (a class of cytokines) is outside the limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011117","HPO_Synonym__c":"Abnormal serum IL level; Abnormal serum interleukin level; Abnormality of IL secretion; Abnormality of interleukin secretion","HPO_Name__c":"Abnormal circulating interleukin concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A general term for inflammation of the muscles without respect to the underlying cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100614","HPO_Synonym__c":"Muscle inflammation","HPO_Name__c":"Myositis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200037","HPO_Name__c":"Skin vesicle","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030783","HPO_Synonym__c":"Increased serum IL-6; Increased serum interleukin-6","HPO_Name__c":"Increased circulating interleukin 6 concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020169","HPO_Name__c":"Abnormal drug response","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation, or an inflammatory state in the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002037","HPO_Synonym__c":"Inflammation of the large intestine","HPO_Name__c":"Inflammation of the large intestine","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Occasional (5-29%)","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:3243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004377","HPO_Name__c":"Hematological neoplasm","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025452","HPO_Name__c":"Pyoderma gangrenosum","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030350","HPO_Name__c":"Erythematous papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Episodic fever that recurs at irregular intervals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032324","HPO_Name__c":"Non-periodic recurrent fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000464","HPO_Synonym__c":"Abnormality of the neck; Anomaly of the neck","HPO_Name__c":"Abnormality of the neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the C-reactive protein level in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011227","HPO_Synonym__c":"Elevated C-reactive protein level","HPO_Name__c":"Elevated circulating C-reactive protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011897","HPO_Synonym__c":"Increased blood neutrophil counts; Neutrophilia","HPO_Name__c":"Increased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025474","HPO_Name__c":"Erythematous plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200036","HPO_Synonym__c":"Growth of abnormal tissue on or under the skin","HPO_Name__c":"Skin nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality affecting one or both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001155","HPO_Synonym__c":"Abnormal hands; Abnormality of the hand; Hand anomalies; Hand deformities","HPO_Name__c":"Abnormality of the hand","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000271","HPO_Synonym__c":"Abnormal face; Abnormality of the face; Facial abnormality","HPO_Name__c":"Abnormality of the face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001061","HPO_Synonym__c":"Acne","HPO_Name__c":"Acne","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of leukemia characterized by overproduction of an early myeloid cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004808","HPO_Synonym__c":"Acute myeloblastic leukemia; Acute myelocytic leukemia; Acute myelogenous leukemia; AML","HPO_Name__c":"Acute myeloid leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025616","HPO_Name__c":"Sterile abscess","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040154","HPO_Synonym__c":"Hidradenitis suppurativa; Pyoderma fistulans significa; Smoker's boils; Verneuil's disease","HPO_Name__c":"Acne inversa","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","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:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011944","HPO_Name__c":"Small vessel vasculitis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","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:3243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of arthritis that affects up to four joints in the first six months of disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040313","HPO_Name__c":"Oligoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003002","HPO_Synonym__c":"Breast cancer","HPO_Name__c":"Breast carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in the production or cellular release of tumor necrosis factor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011118","HPO_Synonym__c":"Abnormality of cachectin secretion; Abnormality of cachexin secretion","HPO_Name__c":"Abnormality of tumor necrosis factor secretion","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200039","HPO_Synonym__c":"Pimple; Pustula; Pustular lesion; Pustules; Skin pustule; Skin pustules","HPO_Name__c":"Pustule","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005550","HPO_Synonym__c":"Chronic lymphocytic leukemia","HPO_Name__c":"Chronic lymphatic leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3243","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003565","HPO_Synonym__c":"Elevated ESR; Elevated sedimentation rate; High erythrocyte sedimentation rate; High ESR; Increased erythrocyte sedimentation rate; Raised erythrocyte sedimentation rate","HPO_Name__c":"Elevated erythrocyte sedimentation rate","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Rheumatology","Dermatology"],"Account":["Dermatology"]},"synonyms":["afnd"," febrile neutrophilic dermatosis"," gomm button disease"," sweet disease"," sweet syndrome"]}