{"Name":"Isolated congenital hypogonadotropic hypogonadism","DiseaseID__c":"GARD:0020643","id":20643,"encodedName":"isolated-congenital-hypogonadotropic-hypogonadism","IsDeleted":false,"Disease_Name_Full__c":"Isolated congenital hypogonadotropic hypogonadism","Xref_IDs__c":"C5679849; MEDGEN:1842176; MONDO:0016553; ORPHA:238666","USA_Estimate__c":null,"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":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":3,"Description_Source__c":"MONDO:0016553","Disease_Description__c":"A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.","GARD_Name__c":"Isolated congenital hypogonadotropic hypogonadism","GARD_Synonym__c":"idiopathic hypogonadotropic hypogonadism; isolated congenital gonadotropin deficiency; isolated gonadotropin-releasing hormone deficiency; nonsyndromic congenital hypogonadotropic hypogonadism","Curated_Disease_Description_Source__c":"ORPHA:238666","Curated_Disease_Description__c":"A rare, genetic pituitary hormone deficiency characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This disorder may be associated with a normal (normosmic) or impaired sense of smell (Kallmann syndrome).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:238666","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016553","ORPHANET_ID__c":"ORPHA:238666","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipogonadismo hipogonadotrópico congénito aislado","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipogonadismo hipogonadotrópico congénito aislado","Spanish_GARD_Synonym__c":"deficiencia de gonadotropina congénita aislada; deficiencia de hormona liberadora de gonadotropina aislada; deficiencia gonadotrópica","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":"A rare, genetic pituitary hormone deficiency characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This disorder may be associated with a normal (normosmic) or impaired sense of smell (Kallmann syndrome).","Curated_Disease_Description_Source__c":"ORPHA:238666","GARD_Synonym__c":"idiopathic hypogonadotropic hypogonadism; isolated congenital gonadotropin deficiency; isolated gonadotropin-releasing hormone deficiency; nonsyndromic congenital hypogonadotropic hypogonadism","Name":"Isolated congenital hypogonadotropic hypogonadism","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":"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":"Neonatal","Provided_By__c":"ORPHA:238666"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:238666"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:238666"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1842176","Source__c":"C5679849","Xref__c":"MEDGEN:1842176"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5679849","Source__c":"C5679849","Xref__c":"C5679849"},{"URL__c":"https://www.orpha.net/en/disease/detail/238666","Source__c":"C5679849; MONDO:0016553; ORPHA:238666","Xref__c":"ORPHA:238666"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016553","Source__c":"GARD:0020643","Xref__c":"MONDO:0016553"}],"Inheritance__c":["Autosomal dominant","X-linked recessive","Oligogenic","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility","Pituitary deficiency"]},"synonyms":["idiopathic hypogonadotropic hypogonadism"," isolated congenital gonadotropin deficiency"," isolated gonadotropin-releasing hormone deficiency"," nonsyndromic congenital hypogonadotropic hypogonadism"]}