Axial mesodermal dysplasia spectrum
ORPHA:1834Malformation syndromeAntenatal
Фенотипы (HPO)42
Очень частый (80–99%)37
HP:0000008Abnormal morphology of female internal genitalia
HP:0000069Abnormality of the ureter
HP:0000078Abnormality of the genital system
HP:0000079Abnormality of the urinary system
HP:0000107Renal cyst
HP:0000212Gingival overgrowth
HP:0000238Hydrocephalus
HP:0000316Hypertelorism
HP:0000324Facial asymmetry
HP:0000347Micrognathia
HP:0000384Preauricular skin tag
HP:0000470Short neck
HP:0000772Abnormal rib morphology
HP:0000776Congenital diaphragmatic hernia
HP:0000921Missing ribs
HP:0000924Abnormality of the skeletal system
HP:0001140Limbal dermoid
HP:0001392Abnormality of the liver
HP:0001539Omphalocele
HP:0001562Oligohydramnios
HP:0001622Premature birth
HP:0001743Abnormality of the spleen
HP:0002020Gastroesophageal reflux
HP:0002023Anal atresia
HP:0002120Cerebral cortical atrophy
HP:0002242Abnormal intestine morphology
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002650Scoliosis
HP:0002815Abnormality of the knee
HP:0003312Abnormal form of the vertebral bodies
HP:0003422Vertebral segmentation defect
HP:0004322Short stature
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0008551Microtia
HP:0008678Renal hypoplasia/aplasia
HP:0012718Morphological abnormality of the gastrointestinal tract
HP:0012732Anorectal anomaly
Частый (30–79%)5
HP:0000126Hydronephrosis
HP:0000707Abnormality of the nervous system
HP:0002019Constipation
HP:0002575Tracheoesophageal fistula
HP:0100542Abnormal localization of kidney
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)