{"Name":"Generalized basaloid follicular hamartoma syndrome","DiseaseID__c":"GARD:0017042","id":17042,"encodedName":"generalized-basaloid-follicular-hamartoma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Generalized basaloid follicular hamartoma syndrome","Xref_IDs__c":"766928004; C1853919; C565284; MEDGEN:343009; MONDO:0011605; OMIM:605827; ORPHA:168632","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011605","Disease_Description__c":"Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.","GARD_Name__c":"Generalized basaloid follicular hamartoma syndrome","GARD_Synonym__c":"basaloid follicular hamartoma syndrome, generalized, autosomal dominant","Curated_Disease_Description_Source__c":"MONDO:0011605","Curated_Disease_Description__c":"Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:168632","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011605","ORPHANET_ID__c":"ORPHA:168632","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hamartoma folicular basaloide generalizado","Spanish_Description_Source__c":"ORPHA:168632","Spanish_Description__c":"Es una enfermedad cutánea genéticapoco frecuente caracterizada por múltiples lesiones similares a milium y/o comedones, y pápulas de 1 a 2 mm de diámetro, de color piel o hiperpigmentadas, asociadas a hipotricosis y depresiones puntiformes palmares / plantares. Las lesiones suelen aparecer en las mejillas o en el cuello y aumentan gradualmente en tamaño y número hasta afectar el cuero cabelludo, cara, pabellones auriculares, hombros, pecho, axilas y tercio superior de brazos. En los casos graves también puede afectarse, la región inferior de la espalda, tercio distal de brazos y la cara posterior de las piernas. También se ha descrito su asociacion con una discreta hipohidrosis.","Spanish_Disease_Name__c":"síndrome de hamartoma folicular basaloide generalizado","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":"Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.","Curated_Disease_Description_Source__c":"MONDO:0011605","GARD_Synonym__c":"basaloid follicular hamartoma syndrome, generalized, autosomal dominant","Name":"Generalized basaloid follicular hamartoma syndrome","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766928004","Source__c":"MONDO:0011605","Xref__c":"766928004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343009","Source__c":"C1853919","Xref__c":"MEDGEN:343009"},{"URL__c":"https://www.orpha.net/en/disease/detail/168632","Source__c":"C1853919; MONDO:0011605","Xref__c":"ORPHA:168632"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853919","Source__c":"C1853919","Xref__c":"C1853919"},{"URL__c":"https://www.omim.org/entry/605827","Source__c":"C1853919; MONDO:0011605; ORPHA:168632","Xref__c":"OMIM:605827"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565284","Source__c":"MONDO:0011605","Xref__c":"C565284"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011605","Source__c":"GARD:0017042","Xref__c":"MONDO:0011605"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:605827","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"}},{"Provided_By__c":"OMIM:605827","Feature__r":{"HPO_Description__c":"A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010566","HPO_Name__c":"Hamartoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605827","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010610","HPO_Name__c":"Palmar pits","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605827","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":"OMIM:605827","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605827","Feature__r":{"HPO_Description__c":"A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025249","HPO_Name__c":"Comedo","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology"],"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["basaloid follicular hamartoma syndrome, generalized, autosomal dominant"]}