{"Name":"Pili bifurcati","DiseaseID__c":"GARD:0018703","id":18703,"encodedName":"pili-bifurcati","IsDeleted":false,"Disease_Name_Full__c":"Pili bifurcati","Xref_IDs__c":"717360009; C5574653; MEDGEN:1812698; MONDO:0019120; ORPHA:720","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019120","Disease_Description__c":"An uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.","GARD_Name__c":"Pili bifurcati","GARD_Synonym__c":"compound hairs; pili multigemini","Curated_Disease_Description_Source__c":"MONDO:0019120","Curated_Disease_Description__c":"An uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:720","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019120","ORPHANET_ID__c":"ORPHA:720","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pili bifurcati","Spanish_Description_Source__c":"ORPHA:720","Spanish_Description__c":"Es una displasia transitoria poco frecuente del eje del cabello caracterizada por una duplicación segmentaria del mismo: una ramificación genera dos ramas paralelas que se fusionan distalmente para formar un solo eje de nuevo. Cada rama está cubierta por su propia cutícula.","Spanish_Disease_Name__c":"pili bifurcati","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":"An uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.","Curated_Disease_Description_Source__c":"MONDO:0019120","GARD_Synonym__c":"compound hairs; pili multigemini","Name":"Pili bifurcati","estimateUsa":""}],"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:720"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1812698","Source__c":"C5574653","Xref__c":"MEDGEN:1812698"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5574653","Source__c":"C5574653","Xref__c":"C5574653"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717360009","Source__c":"C5574653; MONDO:0019120","Xref__c":"717360009"},{"URL__c":"https://www.orpha.net/en/disease/detail/720","Source__c":"C5574653; MONDO:0019120; ORPHA:720","Xref__c":"ORPHA:720"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019120","Source__c":"GARD:0018703","Xref__c":"MONDO:0019120"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:720","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the texture of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010719","HPO_Synonym__c":"Abnormality of hair texture","HPO_Name__c":"Abnormality of hair texture","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:720","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001595","HPO_Synonym__c":"Abnormality of the hair; Hair abnormality","HPO_Name__c":"Abnormal hair 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":["compound hairs"," pili multigemini"]}