{"Name":"Familial isolated trichomegaly","DiseaseID__c":"GARD:0013167","id":13167,"encodedName":"familial-isolated-trichomegaly","IsDeleted":false,"Disease_Name_Full__c":"Familial isolated trichomegaly","Xref_IDs__c":"764523004; C4706941; DOID:0111566; MEDGEN:1639703; MONDO:0018472; ORPHA:411788","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":1,"Description_Source__c":"MONDO:0018472","Disease_Description__c":"Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.","GARD_Name__c":"Familial isolated trichomegaly","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0018472","Curated_Disease_Description__c":"Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:411788","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018472","ORPHANET_ID__c":"ORPHA:411788","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tricomegalia familiar aislada","Spanish_Description_Source__c":"ORPHA:411788","Spanish_Description__c":"Es una anomalía genética poco frecuente del cabello, caracterizada por una fase anágena prolongada de las pestañas, que conduce a un crecimiento extremado de las pestañas que puede provocar irritación de la córnea. Puede estar asociado un aumento de crecimiento de vello en otras zonas del rostro (cejas, mejillas, frente) y/o del cuerpo (pecho, brazos, piernas).","Spanish_Disease_Name__c":"tricomegalia familiar aislada","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":"Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.","Curated_Disease_Description_Source__c":"MONDO:0018472","Name":"Familial isolated trichomegaly","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":"Neonatal","Provided_By__c":"ORPHA:411788"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1639703","Source__c":"C4706941","Xref__c":"MEDGEN:1639703"},{"URL__c":"https://www.orpha.net/en/disease/detail/411788","Source__c":"C4706941; MONDO:0018472; ORPHA:411788","Xref__c":"ORPHA:411788"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111566","Source__c":"MONDO:0018472","Xref__c":"DOID:0111566"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706941","Source__c":"C4706941","Xref__c":"C4706941"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764523004","Source__c":"C4706941; MONDO:0018472","Xref__c":"764523004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018472","Source__c":"GARD:0013167","Xref__c":"MONDO:0018472"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FGF5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":[""]}