{"Name":"Syringocystadenoma papilliferum","DiseaseID__c":"GARD:0005100","id":5100,"encodedName":"syringocystadenoma-papilliferum","IsDeleted":false,"Disease_Name_Full__c":"Syringocystadenoma papilliferum","Xref_IDs__c":"239121009; C0406803; C4172; DOID:5445; MEDGEN:98362; MONDO:0019392; ORPHA:840","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0019392","Disease_Description__c":"A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative.","GARD_Name__c":"Syringocystadenoma papilliferum","GARD_Synonym__c":"fistulous vegetative verrucous hydradenoma; naevus syringocystadenomatosus papilliferus; nevus syringocystadenomatosus papilliferus; papillary syringadenoma; papillary syringadenoma (morphologic abnormality); papillary syringadenoma (syringocystadenoma papilliferum); papillary syringocystadenoma; scap; syringadenoma; syringadenoma papilliferum","Curated_Disease_Description_Source__c":"MONDO:0019392","Curated_Disease_Description__c":"A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:840","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019392","ORPHANET_ID__c":"ORPHA:840","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Siringocistoadenoma papilífero","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"siringocistoadenoma papilífero","Spanish_GARD_Synonym__c":"hidradenoma verrugoso fístulo-vegetativo; nevo siringocistoadenomatoso papilífero; scap; siringoadenoma papilífero; siringocistoadenoma papilar","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 benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative.","Curated_Disease_Description_Source__c":"MONDO:0019392","GARD_Synonym__c":"fistulous vegetative verrucous hydradenoma; naevus syringocystadenomatosus papilliferus; nevus syringocystadenomatosus papilliferus; papillary syringadenoma; papillary syringadenoma (morphologic abnormality); papillary syringadenoma (syringocystadenoma papilliferum); papillary syringocystadenoma; scap; syringadenoma; syringadenoma papilliferum","Name":"Syringocystadenoma papilliferum","estimateUsa":""}],"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":"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":"Infancy","Provided_By__c":"ORPHA:840"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:840"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:840"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:840"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005100","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5445","Source__c":"MONDO:0019392","Xref__c":"DOID:5445"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4172","Source__c":"C0406803; MONDO:0019392","Xref__c":"C4172"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98362","Source__c":"C0406803","Xref__c":"MEDGEN:98362"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239121009","Source__c":"C0406803; MONDO:0019392","Xref__c":"239121009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406803","Source__c":"C0406803","Xref__c":"C0406803"},{"URL__c":"https://www.orpha.net/en/disease/detail/840","Source__c":"C0406803; MONDO:0019392; ORPHA:840","Xref__c":"ORPHA:840"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=8934006","Source__c":"C0406803","Xref__c":"8934006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019392","Source__c":"GARD:0005100","Xref__c":"MONDO:0019392"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BRAF","GHR_URL__c":"https://medlineplus.gov/genetics/gene/braf","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:840","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:840","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased number of hairs per unit area of skin of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002209","HPO_Synonym__c":"Decreased number of scalp follicles; Hypotrichosis on scalp; Reduced amount of scalp hair; Reduced/lack of hair on scalp; Reduction in the number of scalp follicles; Scalp hypotrichosis; Sparse scalp hair; Thinning scalp hair","HPO_Name__c":"Sparse scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:840","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010815","HPO_Synonym__c":"Naevus sebaceous; Organoid nevus; Sebaceous mole; Sebaceous naevus; Sebaceous nevus","HPO_Name__c":"Nevus sebaceous","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:840","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:840","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology","Pediatrics"],"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["fistulous vegetative verrucous hydradenoma"," naevus syringocystadenomatosus papilliferus"," nevus syringocystadenomatosus papilliferus"," papillary syringadenoma"," papillary syringadenoma (morphologic abnormality)"," papillary syringadenoma (syringocystadenoma papilliferum)"," papillary syringocystadenoma"," scap"," syringadenoma"," syringadenoma papilliferum"]}