{"disease":{"id":"ORPHA:251510","name":"46,XY partial gonadal dysgenesis","mondoId":"MONDO:0016674","description":"46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype."},"categories":{"Neoplasm":[{"id":"HP:0000030","name":"Testicular gonadoblastoma","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["ORPHA:251510"]},"category":"Neoplasm"},{"id":"HP:0000149","name":"Ovarian gonadoblastoma","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["ORPHA:251510"]},"category":"Neoplasm"},{"id":"HP:0000150","name":"Gonadoblastoma","metadata":{"sex":"","onset":"","frequency":"Frequent","sources":["ORPHA:251510"]},"category":"Neoplasm"},{"id":"HP:0002667","name":"Nephroblastoma","metadata":{"sex":"","onset":"","frequency":"Very rare","sources":["ORPHA:251510"]},"category":"Neoplasm"}],"Cardiovascular":[{"id":"HP:0030680","name":"Abnormal cardiovascular system morphology","metadata":{"sex":"","onset":"","frequency":"Very rare","sources":["ORPHA:251510"]},"category":"Cardiovascular"}],"Genitourinary system":[{"id":"HP:0008734","name":"Decreased testicular size","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0000027","name":"Azoospermia","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0000812","name":"Abnormal internal genitalia","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0000047","name":"Hypospadias","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0000133","name":"Gonadal dysgenesis","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0000054","name":"Micropenis","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0012244","name":"Abnormal sex determination","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0008736","name":"Hypoplasia of penis","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0000100","name":"Nephrotic syndrome","metadata":{"sex":"","onset":"","frequency":"Very rare","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0000786","name":"Primary amenorrhea","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0000142","name":"Abnormal vagina morphology","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0012870","name":"Vanishing testis","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0008730","name":"Female external genitalia in individual with 46,XY karyotype","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0000062","name":"Ambiguous genitalia","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0000045","name":"Abnormal scrotum morphology","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0000868","name":"Decreased fertility in females","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0008665","name":"Clitoral hypertrophy","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0000058","name":"Abnormal labia morphology","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0010464","name":"Streak ovary","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0008726","name":"Hypoplasia of the vagina","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0100779","name":"Urogenital sinus anomaly","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0000028","name":"Cryptorchidism","metadata":{"sex":"","onset":"","frequency":"Frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"},{"id":"HP:0003251","name":"Male infertility","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Genitourinary system"}],"Breast":[{"id":"HP:0000771","name":"Gynecomastia","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Breast"}],"Endocrine":[{"id":"HP:0008214","name":"Decreased serum estradiol","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Endocrine"},{"id":"HP:0000837","name":"Increased circulating gonadotropin level","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Endocrine"},{"id":"HP:0008193","name":"Primary gonadal insufficiency","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["ORPHA:251510"]},"category":"Endocrine"},{"id":"HP:0000823","name":"Delayed puberty","metadata":{"sex":"","onset":"","frequency":"Frequent","sources":["ORPHA:251510"]},"category":"Endocrine"},{"id":"HP:0000815","name":"Hypergonadotropic hypogonadism","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Endocrine"},{"id":"HP:0008187","name":"Absence of secondary sex characteristics","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["ORPHA:251510"]},"category":"Endocrine"},{"id":"HP:0011969","name":"Elevated circulating luteinizing hormone level","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Endocrine"},{"id":"HP:0000846","name":"Adrenal insufficiency","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["ORPHA:251510"]},"category":"Endocrine"},{"id":"HP:0040171","name":"Decreased serum testosterone concentration","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Endocrine"},{"id":"HP:0008232","name":"Elevated circulating follicle stimulating hormone level","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Endocrine"}],"Skeletal system":[{"id":"HP:0000939","name":"Osteoporosis","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Skeletal system"}],"Skin, Hair, and Nails":[{"id":"HP:0002225","name":"Sparse pubic hair","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Skin, Hair, and Nails"},{"id":"HP:0002215","name":"Sparse axillary hair","metadata":{"sex":"","onset":"","frequency":"Very frequent","sources":["ORPHA:251510"]},"category":"Skin, Hair, and Nails"}],"Other":[{"id":"HP:0002750","name":"Delayed skeletal maturation","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["ORPHA:251510"]},"category":"Other"}]},"genes":[{"id":"NCBIGene:51741","name":"WWOX"},{"id":"NCBIGene:23414","name":"ZFPM2"},{"id":"NCBIGene:6662","name":"SOX9"},{"id":"NCBIGene:6736","name":"SRY"},{"id":"NCBIGene:190","name":"NR0B1"},{"id":"NCBIGene:2516","name":"NR5A1"},{"id":"NCBIGene:57647","name":"DHX37"},{"id":"NCBIGene:6845","name":"VAMP7"},{"id":"NCBIGene:2626","name":"GATA4"},{"id":"NCBIGene:4214","name":"MAP3K1"},{"id":"NCBIGene:7490","name":"WT1"}],"medicalActions":[]}