Satoyoshi syndrome
ORPHA:3130DiseaseNot applicableAdolescent, Adult, Childhood
Фенотипы (HPO)24
Очень частый (80–99%)24
HP:0031095Abnormal humerus morphology
HP:0000013Hypoplasia of the uterus
HP:0000130Abnormality of the uterus
HP:0000137Abnormality of the ovary
HP:0000141Amenorrhea
HP:0000252Microcephaly
HP:0000924Abnormality of the skeletal system
HP:0000944Abnormal metaphysis morphology
HP:0001182Tapered finger
HP:0001367Abnormal joint morphology
HP:0001595Abnormality of the hair
HP:0002289Alopecia universalis
HP:0002815Abnormality of the knee
HP:0002823Abnormality of femur morphology
HP:0002970Genu varum
HP:0003019Abnormality of the wrist
HP:0003272Abnormality of the hip bone
HP:0003307Hyperlordosis
HP:0004322Short stature
HP:0005930Abnormality of epiphysis morphology
HP:0008724Hypoplasia of the ovary
HP:0009806Nephrogenic diabetes insipidus
HP:0011964Intermittent painful muscle spasms
HP:0200102Sparse or absent eyelashes
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)