{"Name":"46,XY sex reversal 2","DiseaseID__c":"GARD:0009159","id":9159,"encodedName":"46xy-sex-reversal-2","IsDeleted":false,"Disease_Name_Full__c":"46,XY sex reversal 2","Xref_IDs__c":"C1848296; C202543; C535601; DOID:0111777; MEDGEN:341190; MONDO:0010226; OMIM:300018","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:300018","Disease_Description__c":"A number sign (#) is used with this entry because of evidence that dosage-sensitive sex reversal is due to duplication of the DAX1 gene (NR0B1; {300473}) on chromosome Xp21.3-p21.2.\\n\\nFor a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 ({400044}).","GARD_Name__c":"46,XY sex reversal 2","GARD_Synonym__c":"46,xy sex reversal type 2; 46,xy sex reversal, dax1-related; 46xy sex reversal 2, dosage-sensitive; dosage-sensitive sex reversal; nr0b1-related 46,xy cgd; nr0b1-related 46,xy complete gonadal dysgenesis","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"46,XY sex reversal 2 is a genetic condition where a person with XY chromosomes (typically male) has female physical characteristics. This happens because of a duplication of the NR0B1 gene on chromosome Xp21.3-p21.2. The duplication causes a dosage-sensitive male-to-female sex reversal. This means that the duplication of the NR0B1 gene on the X chromosome with normal sex determining region of Y (SRY) results in 46 XY sex reversal. The condition is inherited from the mother who has normal ovarian function. The duplication can cause growth failure, intellectual disability, and multiple physical or structural differences that are present at birth. The baby does not have a variation of DAX1, which would have caused lack of certain hormones. The condition is diagnosed through genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:300018","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010226","ORPHANET_ID__c":null,"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":null,"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":"46,XY sex reversal 2 is a genetic condition where a person with XY chromosomes (typically male) has female physical characteristics. This happens because of a duplication of the NR0B1 gene on chromosome Xp21.3-p21.2. The duplication causes a dosage-sensitive male-to-female sex reversal. This means that the duplication of the NR0B1 gene on the X chromosome with normal sex determining region of Y (SRY) results in 46 XY sex reversal. The condition is inherited from the mother who has normal ovarian function. The duplication can cause growth failure, intellectual disability, and multiple physical or structural differences that are present at birth. The baby does not have a variation of DAX1, which would have caused lack of certain hormones. The condition is diagnosed through genetic testing.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"46,xy sex reversal type 2; 46,xy sex reversal, dax1-related; 46xy sex reversal 2, dosage-sensitive; dosage-sensitive sex reversal; nr0b1-related 46,xy cgd; nr0b1-related 46,xy complete gonadal dysgenesis","Name":"46,XY sex reversal 2","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009159","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341190","Source__c":"C1848296","Xref__c":"MEDGEN:341190"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535601","Source__c":"MONDO:0010226","Xref__c":"C535601"},{"URL__c":"https://www.omim.org/entry/300018","Source__c":"C1848296; MONDO:0010226","Xref__c":"OMIM:300018"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848296","Source__c":"C1848296","Xref__c":"C1848296"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111777","Source__c":"MONDO:0010226","Xref__c":"DOID:0111777"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C202543","Source__c":"C1848296","Xref__c":"C202543"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010226","Source__c":"GARD:0009159","Xref__c":"MONDO:0010226"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NR0B1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nr0b1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300018","Feature__r":{"HPO_Description__c":"Development of the reproductive system is inconsistent with the chromosomal sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012245","HPO_Name__c":"Sex reversal","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["46,xy sex reversal type 2"," 46,xy sex reversal, dax1-related"," 46xy sex reversal 2, dosage-sensitive"," dosage-sensitive sex reversal"," nr0b1-related 46,xy cgd"," nr0b1-related 46,xy complete gonadal dysgenesis"]}