46,XY ovotesticular difference of sex development
ORPHA:325345DiseaseAntenatal, Neonatal
Фенотипы (HPO)19
Очень частый (80–99%)14
HP:0000048Bifid scrotum
HP:0000051Perineal hypospadias
HP:0000054Micropenis
HP:0000056Abnormality of the clitoris
HP:0000058Abnormality of the labia
HP:0000062Ambiguous genitalia
HP:0000063Fused labia minora
HP:0001197Abnormality of prenatal development or birth
HP:0010459True hermaphroditism
HP:0010460Abnormality of the female genitalia
HP:0010461Abnormality of the male genitalia
HP:0012244Abnormal sex determination
HP:0012861Ovotestis
HP:0100779Urogenital sinus anomaly
Частый (30–79%)3
HP:0000041Chordee
HP:0000150Gonadoblastoma
HP:0030258Hyperpigmented genitalia
Периодический (5–29%)2
HP:0000023Inguinal hernia
HP:0000039Epispadias
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.3 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)