{"Name":"46,XX ovotesticular disorder of sex development","DiseaseID__c":"GARD:0016585","id":16585,"encodedName":"46xx-ovotesticular-disorder-of-sex-development","IsDeleted":false,"Disease_Name_Full__c":"46,XX ovotesticular disorder of sex development","Xref_IDs__c":"1234906009; 18978002; C127167; C127172; C5679613; D050090; MEDGEN:1814438; MONDO:0016281; ORPHA:2138","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0016281","Disease_Description__c":"A rare difference of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.","GARD_Name__c":"46,XX ovotesticular disorder of sex development","GARD_Synonym__c":"46,xx ovotesticular dsd; ovotesticular differences of sex development; ovotesticular disorders of sex development; ovotesticular dsd","Curated_Disease_Description_Source__c":"ORPHA:2138","Curated_Disease_Description__c":"A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2138","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016281","ORPHANET_ID__c":"ORPHA:2138","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Desarrollo sexual diferente 46,xx ovotesticular","Spanish_Description_Source__c":"ORPHA:2138","Spanish_Description__c":"Es una forma poco frecuente de desarrollo sexual diferente (DSD) poco frecuente caracterizado por la presencia de tejido testicular y ovárico, histológicamente confirmado, en un individuo con un cariotipo 46,XX.","Spanish_Disease_Name__c":"desarrollo sexual diferente 46,xx ovotesticular","Spanish_GARD_Synonym__c":"dsd 46,xx ovotesticular; trastorno del desarrollo sexual 46,xx ovotesticular","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 disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.","Curated_Disease_Description_Source__c":"ORPHA:2138","GARD_Synonym__c":"46,xx ovotesticular dsd; ovotesticular differences of sex development; ovotesticular disorders of sex development; ovotesticular dsd","Name":"46,XX ovotesticular disorder of sex development","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2138"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2138"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2138"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1416","Source__c":"Gene Review","Xref__c":"NBK1416"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C050090","Source__c":"MONDO:0016281","Xref__c":"D050090"},{"URL__c":"https://www.orpha.net/en/disease/detail/2138","Source__c":"C5679613; MONDO:0016281; ORPHA:2138","Xref__c":"ORPHA:2138"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5679613","Source__c":"C5679613","Xref__c":"C5679613"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1814438","Source__c":"C5679613","Xref__c":"MEDGEN:1814438"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=18978002","Source__c":"MONDO:0016281","Xref__c":"18978002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C127167","Source__c":"MONDO:0016281","Xref__c":"C127167"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1234906009","Source__c":"C5679613","Xref__c":"1234906009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016281","Source__c":"GARD:0016585","Xref__c":"MONDO:0016281"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C127172","Source__c":"C5679613","Xref__c":"C127172"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SRY","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sry","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SOX9","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sox9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NR5A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nr5a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000062","HPO_Synonym__c":"Ambiguous external genitalia; Ambiguous external genitalia at birth; Intersex genitalia","HPO_Name__c":"Ambiguous genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the male internal genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000022","HPO_Name__c":"Abnormal male internal genitalia morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000144","HPO_Synonym__c":"Abnormal fertility; Decreased fertility","HPO_Name__c":"Decreased fertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anomaly of the folded ridges (wrinkles) of skin of the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012856","HPO_Name__c":"Abnormal scrotal rugation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the female internal genitalia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000008","HPO_Synonym__c":"Abnormality of female internal genitalia","HPO_Name__c":"Abnormal morphology of female internal genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000130","HPO_Synonym__c":"Abnormality of the uterus; Uterine abnormalities; Uterine malformations","HPO_Name__c":"Abnormality of the uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008736","HPO_Synonym__c":"Underdeveloped penis","HPO_Name__c":"Hypoplasia of penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000147","HPO_Synonym__c":"Polycystic ovary; Sclerocystic ovaries","HPO_Name__c":"Polycystic ovaries","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A rare birth defect in women where the urethra and vagina both open into a common channel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100779","HPO_Name__c":"Urogenital sinus anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010459","HPO_Synonym__c":"Testicular and ovarian tissue present","HPO_Name__c":"True hermaphroditism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Apparently small scrotum for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000046","HPO_Synonym__c":"Hypoplastic scrotum; Scrotal hypoplasia; Smaller than typical growth of scrotum; Underdeveloped scrotum","HPO_Name__c":"Small scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2138","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Midline indentation or cleft of the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000048","HPO_Synonym__c":"Cleft of scrotum; Scrotal cleft","HPO_Name__c":"Bifid scrotum","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["46,xx ovotesticular dsd"," ovotesticular differences of sex development"," ovotesticular disorders of sex development"," ovotesticular dsd"]}