{"Name":"Pemphigus foliaceus","DiseaseID__c":"GARD:0007354","id":7354,"encodedName":"pemphigus-foliaceus","IsDeleted":false,"Disease_Name_Full__c":"Pemphigus foliaceus","Xref_IDs__c":"35154004; C0263313; DOID:0080850; MEDGEN:75513; MONDO:0019324; ORPHA:79481","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","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":"MONDO:0019324","Disease_Description__c":"A rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.","GARD_Name__c":"Pemphigus foliaceus","GARD_Synonym__c":"pemphigus foliaceous; pf - pemphigus foliaceous","Curated_Disease_Description_Source__c":"MONDO:0019324","Curated_Disease_Description__c":"A rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:79481","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019324","ORPHANET_ID__c":"ORPHA:79481","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pénfigo foliáceo","Spanish_Description_Source__c":"ORPHA:79481","Spanish_Description__c":"Es un tipo de pénfigo superficial poco frecuente caracterizado por múltiples erosiones cutáneas descamativas, costrosas y pruriginosas, y placas descamativas circunscritas, localizadas principalmente en la cara, cuero cabelludo, tronco y extremidades, que con frecuencia presentan una base eritematosa. Excepcionalmente se observa afectación de las mucosas.","Spanish_Disease_Name__c":"pénfigo foliáceo","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 superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.","Curated_Disease_Description_Source__c":"MONDO:0019324","GARD_Synonym__c":"pemphigus foliaceous; pf - pemphigus foliaceous","Name":"Pemphigus foliaceus","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Skin Disease Foundation","Website__c":"https://www.csdf.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"International Pemphigus & Pemphigoid Foundation","Website__c":"https://www.pemphigus.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:79481"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=35154004","Source__c":"C0263313; MONDO:0019324","Xref__c":"35154004"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080850","Source__c":"MONDO:0019324","Xref__c":"DOID:0080850"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75513","Source__c":"C0263313","Xref__c":"MEDGEN:75513"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0263313","Source__c":"C0263313","Xref__c":"C0263313"},{"URL__c":"https://www.orpha.net/en/disease/detail/79481","Source__c":"C0263313; MONDO:0019324; ORPHA:79481","Xref__c":"ORPHA:79481"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019324","Source__c":"GARD:0007354","Xref__c":"MONDO:0019324"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79481","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:79481","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the oral mucosa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011830","HPO_Synonym__c":"Abnormality of lining of mouth; Abnormality of mucosa of mouth; Abnormality of oral mucosa; Abnormality of oral mucous membrane","HPO_Name__c":"Abnormal oral mucosa morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001965","HPO_Synonym__c":"Abnormality of the scalp; Anomaly of scalp","HPO_Name__c":"Abnormal scalp morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Frequent (30-79%)","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:79481","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A lesion of the skin with a ring-like distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025528","HPO_Name__c":"Annular cutaneous lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200041","HPO_Name__c":"Skin erosion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000155","HPO_Synonym__c":"Mouth ulcer; Oral mucosal ulceration","HPO_Name__c":"Oral ulcer","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A skin lesion with a snake- or serpent-like distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025527","HPO_Synonym__c":"Serpiginous eruption","HPO_Name__c":"Serpiginous cutaneous lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100792","HPO_Name__c":"Acantholysis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Uncommon (<1-4%)","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:79481","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"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001019","HPO_Synonym__c":"Exfoliative dermititis; Generalized erythroderma; Generalized erythrodermia","HPO_Name__c":"Erythroderma","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Frequent (30-79%)","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:79481","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007473","HPO_Name__c":"Crusting erythematous dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003765","HPO_Synonym__c":"Psoriasis","HPO_Name__c":"Psoriasiform dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040189","HPO_Synonym__c":"Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin","HPO_Name__c":"Scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79481","HPO_Frequency__c":"Uncommon (<1-4%)","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:79481","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology","Pediatrics"]},"synonyms":["pemphigus foliaceous"," pf - pemphigus foliaceous"]}