{"Name":"Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome","DiseaseID__c":"GARD:0016553","id":16553,"encodedName":"alopecia-intellectual-disability-hypergonadotropic-hypogonadism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome","Xref_IDs__c":"720981000; C1832593; C563370; MEDGEN:321990; MONDO:0011019; OMIM:601217; ORPHA:1014","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011019","Disease_Description__c":"A rare multiple congential anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism.","GARD_Name__c":"Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome","GARD_Synonym__c":"devriendt-vandenberghe-fryns syndrome","Curated_Disease_Description_Source__c":"ORPHA:1014","Curated_Disease_Description__c":"A rare syndromic intellectual disability characterized by the association of total, congenital alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Reported electroencephalography findings were normal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1014","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011019","ORPHANET_ID__c":"ORPHA:1014","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de alopecia-discapacidad intelectual-hipogonadismo hipergonadotrópico","Spanish_Description_Source__c":"ORPHA:1014","Spanish_Description__c":"Es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado por la asociación de alopecia total congénita, déficit intelectual leve e hipogonadismo hipergonadotrópico.","Spanish_Disease_Name__c":"síndrome de alopecia-discapacidad intelectual-hipogonadismo hipergonadotrópico","Spanish_GARD_Synonym__c":"síndrome de devriendt-vandenberghe-fryns","Category_Linearization__c":"ORPHA:93890","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 syndromic intellectual disability characterized by the association of total, congenital alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Reported electroencephalography findings were normal.","Curated_Disease_Description_Source__c":"ORPHA:1014","GARD_Synonym__c":"devriendt-vandenberghe-fryns syndrome","Name":"Alopecia-intellectual disability-hypergonadotropic hypogonadism 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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1014"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832593","Source__c":"C1832593","Xref__c":"C1832593"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720981000","Source__c":"MONDO:0011019","Xref__c":"720981000"},{"URL__c":"https://www.orpha.net/en/disease/detail/1014","Source__c":"C1832593; MONDO:0011019","Xref__c":"ORPHA:1014"},{"URL__c":"https://www.omim.org/entry/601217","Source__c":"C1832593; MONDO:0011019; ORPHA:1014","Xref__c":"OMIM:601217"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=321990","Source__c":"C1832593","Xref__c":"MEDGEN:321990"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563370","Source__c":"MONDO:0011019","Xref__c":"C563370"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011019","Source__c":"GARD:0016553","Xref__c":"MONDO:0011019"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1014","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of all scalp hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007418","HPO_Name__c":"Alopecia totalis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1014","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1014","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000815","HPO_Synonym__c":"Hypergonadotrophic hypogonadism; Primary hypogonadism","HPO_Name__c":"Hypergonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Dermatology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology"]},"synonyms":["devriendt-vandenberghe-fryns syndrome"]}