{"Name":"Seborrhea-like dermatitis with psoriasiform elements","DiseaseID__c":"GARD:0017039","id":17039,"encodedName":"seborrhea-like-dermatitis-with-psoriasiform-elements","IsDeleted":false,"Disease_Name_Full__c":"Seborrhea-like dermatitis with psoriasiform elements","Xref_IDs__c":"782910009; C1853258; C565217; MEDGEN:342832; MONDO:0012446; OMIM:610227; ORPHA:168606","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:168606","Disease_Description__c":"Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.","GARD_Name__c":"Seborrhea-like dermatitis with psoriasiform elements","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:168606","Curated_Disease_Description__c":"A rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:168606","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012446","ORPHANET_ID__c":"ORPHA:168606","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Dermatitis tipo seborreica con elementos psoriasiformes","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"dermatitis tipo seborreica con elementos psoriasiformes","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, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.","Curated_Disease_Description_Source__c":"ORPHA:168606","Name":"Seborrhea-like dermatitis with psoriasiform elements","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Childhood","Provided_By__c":"ORPHA:168606"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565217","Source__c":"MONDO:0012446","Xref__c":"C565217"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853258","Source__c":"C1853258","Xref__c":"C1853258"},{"URL__c":"https://www.omim.org/entry/610227","Source__c":"C1853258; MONDO:0012446; ORPHA:168606","Xref__c":"OMIM:610227"},{"URL__c":"https://www.orpha.net/en/disease/detail/168606","Source__c":"C1853258; MONDO:0012446; ORPHA:168606","Xref__c":"ORPHA:168606"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342832","Source__c":"C1853258","Xref__c":"MEDGEN:342832"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012446","Source__c":"GARD:0017039","Xref__c":"MONDO:0012446"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782910009","Source__c":"C1853258","Xref__c":"782910009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ZNF750","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610227","Feature__r":{"HPO_Description__c":"Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001051","HPO_Synonym__c":"Seborrhea; Seborrheic eczema","HPO_Name__c":"Seborrheic dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610227","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610227","Feature__r":{"HPO_Description__c":"An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032152","HPO_Synonym__c":"Carpet tack sign; Chicken skin; Follicular keratosis; Follicular keratotic plug; Follicular plugging; Hyperkeratosis pilaris; Lichen pilaris","HPO_Name__c":"Keratosis pilaris","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610227","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":[""]}