{"Name":"46,XY ovotesticular disorder of sex development","DiseaseID__c":"GARD:0021469","id":21469,"encodedName":"46xy-ovotesticular-disorder-of-sex-development","IsDeleted":false,"Disease_Name_Full__c":"46,XY ovotesticular disorder of sex development","Xref_IDs__c":"763683004; C127173; C2697358; MEDGEN:394582; MONDO:0017968; ORPHA:325345","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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017968","Disease_Description__c":"46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.","GARD_Name__c":"46,XY ovotesticular disorder of sex development","GARD_Synonym__c":"46,xy ovotesticular dsd","Curated_Disease_Description_Source__c":"MONDO:0017968","Curated_Disease_Description__c":"46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:325345","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017968","ORPHANET_ID__c":"ORPHA:325345","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Desarrollo sexual diferente 46,xy ovotesticular","Spanish_Description_Source__c":"ORPHA:325345","Spanish_Description__c":"El trastorno ovotesticular del desarrollo sexual 46 XY es un trastorno genético poco frecuente del desarrollo sexual caracterizado por la coexistencia de gónadas reproductivas masculinas y femeninas o, más frecuentemente, por la presencia de una o ambas gónadas que contienen una mezcla de tejido ovárico y testicular (ovotestes) en un individuo con un cariotipo 46 XY masculino normal. Los genitales externos suelen ser ambiguos, pero pueden variar desde masculinos a femeninos y, si hay útero y / o trompas de Falopio, generalmente éstos son hipoplásicos. Se asocian con frecuencia criptorquidia, hipospadias, infertilidad y mayor riesgo de tumores gonadales.","Spanish_Disease_Name__c":"desarrollo sexual diferente 46,xy ovotesticular","Spanish_GARD_Synonym__c":"dsd ovotesticular 46,xy; trastorno ovotesticular 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":"46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.","Curated_Disease_Description_Source__c":"MONDO:0017968","GARD_Synonym__c":"46,xy ovotesticular dsd","Name":"46,XY ovotesticular disorder of sex development","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Accord Alliance","Website__c":"http://www.accordalliance.org/"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:325345"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:325345"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/325345","Source__c":"C2697358; MONDO:0017968; ORPHA:325345","Xref__c":"ORPHA:325345"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2697358","Source__c":"C2697358","Xref__c":"C2697358"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763683004","Source__c":"C2697358; MONDO:0017968","Xref__c":"763683004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=394582","Source__c":"C2697358","Xref__c":"MEDGEN:394582"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C127173","Source__c":"C2697358","Xref__c":"C127173"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017968","Source__c":"GARD:0021469","Xref__c":"MONDO:0017968"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:325345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000039","HPO_Name__c":"Epispadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Localized or generalized increased genital pigmentation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030258","HPO_Synonym__c":"Increased genital pigmentation","HPO_Name__c":"Hyperpigmented genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A gonad that contains both ovarian follicles and testicular tubular elements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012861","HPO_Name__c":"Ovotestis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","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:325345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000054","HPO_Synonym__c":"Short penis; Small penis","HPO_Name__c":"Micropenis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000063","HPO_Synonym__c":"Fused inner lips","HPO_Name__c":"Fused labia minora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the male genital system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010461","HPO_Synonym__c":"Abnormal male genitals; Abnormality of the male genitalia","HPO_Name__c":"Abnormality of the male genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","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"}},{"Provided_By__c":"ORPHA:325345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anomaly of primary or secondary sexual development or characteristics.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012244","HPO_Name__c":"Abnormal sex determination","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the female genital system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010460","HPO_Name__c":"Abnormality of the female genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","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:325345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000150","HPO_Name__c":"Gonadoblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypospadias with location of the urethral meatus in the perineal region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000051","HPO_Name__c":"Perineal hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the labia, the externally visible portions of the vulva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000058","HPO_Synonym__c":"Abnormality of the labia","HPO_Name__c":"Abnormal labia morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the clitoris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000056","HPO_Synonym__c":"Abnormality of the clit; Abnormality of the clitoris","HPO_Name__c":"Abnormal clitoris morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","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:325345","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital anomaly of the penis characterized by ventral (i.e., downward), lateral, or ventrolateral curvature of the shaft and glans penis of more than 30 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000041","HPO_Name__c":"Chordee","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:325345","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001197","HPO_Synonym__c":"Abnormality of prenatal development or birth","HPO_Name__c":"Abnormality of prenatal development or birth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"]},"synonyms":["46,xy ovotesticular dsd"]}