{"Name":"Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome","DiseaseID__c":"GARD:0000324","id":324,"encodedName":"hypogonadotropic-hypogonadism-frontoparietal-alopecia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome","Xref_IDs__c":"721842008; C4303079; MEDGEN:928748; MONDO:0016384; ORPHA:2230","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016384","Disease_Description__c":"This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.","GARD_Name__c":"Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome","GARD_Synonym__c":"hypogonadotropic hypogonadism with frontoparietal alopecia syndrome; salti salem syndrome; salti-salem syndrome","Curated_Disease_Description_Source__c":"MONDO:0016384","Curated_Disease_Description__c":"This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2230","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016384","ORPHANET_ID__c":"ORPHA:2230","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipogonadismo hipogonadotrópico-alopecia fronto parietal","Spanish_Description_Source__c":"ORPHA:2230","Spanish_Description__c":"El síndrome se caracteriza por la asociación de hipogonadismo hipogonadotrópico y alopecia frontoparietal.","Spanish_Disease_Name__c":"síndrome de hipogonadismo hipogonadotrópico-alopecia fronto parietal","Spanish_GARD_Synonym__c":"síndrome de salti-salem","Category_Linearization__c":"ORPHA:97978","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":"This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.","Curated_Disease_Description_Source__c":"MONDO:0016384","GARD_Synonym__c":"hypogonadotropic hypogonadism with frontoparietal alopecia syndrome; salti salem syndrome; salti-salem syndrome","Name":"Hypogonadotropic hypogonadism-frontoparietal alopecia 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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2230"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=928748","Source__c":"C4303079","Xref__c":"MEDGEN:928748"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721842008","Source__c":"C4303079; MONDO:0016384","Xref__c":"721842008"},{"URL__c":"https://www.orpha.net/en/disease/detail/2230","Source__c":"C4303079; MONDO:0016384; ORPHA:2230","Xref__c":"ORPHA:2230"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303079","Source__c":"C4303079","Xref__c":"C4303079"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016384","Source__c":"GARD:0000324","Xref__c":"MONDO:0016384"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility","Pituitary deficiency"]},"synonyms":["hypogonadotropic hypogonadism with frontoparietal alopecia syndrome"," salti salem syndrome"," salti-salem syndrome"]}