{"Name":"46,XY disorder of sex development","DiseaseID__c":"GARD:0008538","id":8538,"encodedName":"46xy-disorder-of-sex-development","IsDeleted":false,"Disease_Name_Full__c":"46,XY disorder of sex development","Xref_IDs__c":"8234004; 880094008; C127171; C2751824; D058490; MEDGEN:414114; MONDO:0020040; ORPHA:98085","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020040","Disease_Description__c":"Differences of sex development in individuals with 46,XY karyotype.","GARD_Name__c":"46,XY disorder of sex development","GARD_Synonym__c":"46, xy disorder of sex development (dsd); 46,xy differences of sex development; 46,xy disorders of sex development; 46,xy dsd","Curated_Disease_Description_Source__c":"GARD:0008538","Curated_Disease_Description__c":"A 46, XY disorders of sexual development (DSD) is a condition in which an individual with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have genitalia that is not clearly male or female. Infants with this condition tend to have penoscrotal hypospadias, abnormal development of the testes, and reduced to no sperm production. Some individuals with 46, XY DSD have fully to underdeveloped female reproductive organs (e.g., uterus and fallopian tubes), while others do not. People with with 46, XY DSD may be raised as males or females.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98085","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020040","ORPHANET_ID__c":"ORPHA:98085","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Desarrollo sexual diferente 46,xy","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"desarrollo sexual diferente 46,xy","Spanish_GARD_Synonym__c":"dsd 46,xy; trastorno del desarrollo sexual 46,xy","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 46, XY disorders of sexual development (DSD) is a condition in which an individual with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have genitalia that is not clearly male or female. Infants with this condition tend to have penoscrotal hypospadias, abnormal development of the testes, and reduced to no sperm production. Some individuals with 46, XY DSD have fully to underdeveloped female reproductive organs (e.g., uterus and fallopian tubes), while others do not. People with with 46, XY DSD may be raised as males or females.","Curated_Disease_Description_Source__c":"GARD:0008538","GARD_Synonym__c":"46, xy disorder of sex development (dsd); 46,xy differences of sex development; 46,xy disorders of sex development; 46,xy dsd","Name":"46,XY disorder of sex development","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"InterConnect","Website__c":"https://interconnect.support/"},{"Account_Name__c":"Accord Alliance","Website__c":"http://www.accordalliance.org/"}],"GARD_Disease_Tag__c":[{"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":"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":"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":"Urologist","Tag_Category__c":"Specialist"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2751824"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2751824","Source__c":"C2751824","Xref__c":"C2751824"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=8234004","Source__c":"MONDO:0020040","Xref__c":"8234004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=414114","Source__c":"C2751824","Xref__c":"MEDGEN:414114"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C058490","Source__c":"C2751824; MONDO:0020040","Xref__c":"D058490"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C127171","Source__c":"C2751824; MONDO:0020040","Xref__c":"C127171"},{"URL__c":"https://www.orpha.net/en/disease/detail/98085","Source__c":"C2751824; MONDO:0020040; ORPHA:98085","Xref__c":"ORPHA:98085"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=880094008","Source__c":"C2751824","Xref__c":"880094008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020040","Source__c":"GARD:0008538","Xref__c":"MONDO:0020040"}],"tags":{"Disease Category":["Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Endocrine","Urologist"]},"synonyms":["46, xy disorder of sex development (dsd)"," 46,xy differences of sex development"," 46,xy disorders of sex development"," 46,xy dsd"]}