{"Name":"IFAP syndrome","DiseaseID__c":"GARD:0002952","id":2952,"encodedName":"ifap-syndrome","IsDeleted":false,"Disease_Name_Full__c":"IFAP syndrome","Xref_IDs__c":"C1839988; MEDGEN:327007; MONDO:0100212; OMIMPS:308205","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:2273","Disease_Description__c":"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.","GARD_Name__c":"IFAP syndrome","GARD_Synonym__c":"ichthyosis follicularis-alopecia-photophobia syndrome; ichthyosis follicularis-atrichia-photophobia syndrome; ichthyosis follicularis, atrichia, and photophobia syndrome","Curated_Disease_Description_Source__c":"ORPHA:2273","Curated_Disease_Description__c":"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2273","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100212","ORPHANET_ID__c":"ORPHA:2273","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"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":"Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.","Curated_Disease_Description_Source__c":"ORPHA:2273","GARD_Synonym__c":"ichthyosis follicularis-alopecia-photophobia syndrome; ichthyosis follicularis-atrichia-photophobia syndrome; ichthyosis follicularis, atrichia, and photophobia syndrome","Name":"IFAP syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1839988"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002952","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=327007","Source__c":"C1839988","Xref__c":"MEDGEN:327007"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS308205","Source__c":"MONDO:0100212","Xref__c":"OMIMPS:308205"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839988","Source__c":"C1839988","Xref__c":"C1839988"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100212","Source__c":"GARD:0002952","Xref__c":"MONDO:0100212"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["ichthyosis follicularis-alopecia-photophobia syndrome"," ichthyosis follicularis-atrichia-photophobia syndrome"," ichthyosis follicularis, atrichia, and photophobia syndrome"]}