{"Name":"FLOTCH syndrome","DiseaseID__c":"GARD:0002346","id":2346,"encodedName":"flotch-syndrome","IsDeleted":false,"Disease_Name_Full__c":"FLOTCH syndrome","Xref_IDs__c":"774065001; C2931411; C537065; MEDGEN:419074; MONDO:0016083; ORPHA:2045","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016083","Disease_Description__c":"FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.","GARD_Name__c":"FLOTCH syndrome","GARD_Synonym__c":"friedel heid grosshans syndrome; leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome; leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome","Curated_Disease_Description_Source__c":"MONDO:0016083","Curated_Disease_Description__c":"FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:2045","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016083","ORPHANET_ID__c":"ORPHA:2045","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome flotch","Spanish_Description_Source__c":"ORPHA:2045","Spanish_Description__c":"Es un trastorno cutáneo, genético y poco frecuente, caracterizado por leuconiquia y múltiples quistes pilares recurrentes, asociados o no a distrofia ciliar y/o coiloniquia. También se han descrito cálculos renales.","Spanish_Disease_Name__c":"síndrome flotch","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":"FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0016083","GARD_Synonym__c":"friedel heid grosshans syndrome; leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome; leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome","Name":"FLOTCH syndrome","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:2045"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2045"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537065","Source__c":"MONDO:0016083","Xref__c":"C537065"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931411","Source__c":"C2931411","Xref__c":"C2931411"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419074","Source__c":"C2931411","Xref__c":"MEDGEN:419074"},{"URL__c":"https://www.orpha.net/en/disease/detail/2045","Source__c":"C2931411; MONDO:0016083; ORPHA:2045","Xref__c":"ORPHA:2045"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016083","Source__c":"GARD:0002346","Xref__c":"MONDO:0016083"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=774065001","Source__c":"C2931411","Xref__c":"774065001"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2045","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2045","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000499","HPO_Synonym__c":"Abnormal eyelashes; Abnormality of the eyelashes; Eyelash abnormality","HPO_Name__c":"Abnormal eyelash morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2045","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the eye, parts of the eye or the periorbital region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100533","HPO_Synonym__c":"Inflammatory abnormality of the eye; Ocular inflammation","HPO_Name__c":"Inflammatory abnormality of the eye","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2045","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2045","HPO_Frequency__c":"Very frequent (80-99%)","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:2045","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000653","HPO_Synonym__c":"Hypotrichosis of eyelashes; Partial absence of eyelashes; Scant eyelashes; Scanty eyelashes; Sparse eyelashes; Thin eyelashes","HPO_Name__c":"Sparse eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2045","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000492","HPO_Synonym__c":"Abnormality of the eyelid; Abnormality of the eyelids","HPO_Name__c":"Abnormal eyelid morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2045","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000498","HPO_Synonym__c":"Cellulitis of eyelids; Inflammation of eyelids","HPO_Name__c":"Blepharitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2045","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["friedel heid grosshans syndrome"," leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome"," leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome"]}