Congenital hypothyroidism due to maternal intake of antithyroid drugs
ORPHA:226313DiseaseInfancy, Neonatal
Фенотипы (HPO)26
Очень частый (80–99%)5
HP:0000851Congenital hypothyroidism
HP:0000853Goiter
HP:0002925Elevated circulating thyroid-stimulating hormone concentration
HP:0003270Abdominal distention
HP:0031507Decreased circulating thyroxine level
Частый (30–79%)17
HP:0000158Macroglossia
HP:0001070Mottled pigmentation
HP:0001265Hyporeflexia
HP:0001319Neonatal hypotonia
HP:0001520Large for gestational age
HP:0001537Umbilical hernia
HP:0001538Protuberant abdomen
HP:0002019Constipation
HP:0002045Hypothermia
HP:0002663Delayed epiphyseal ossification
HP:0005280Depressed nasal bridge
HP:0005930Abnormality of epiphysis morphology
HP:0006579Prolonged neonatal jaundice
HP:0008820Absent ossification of capital femoral epiphysis
HP:0008872Feeding difficulties in infancy
HP:0100786Hypersomnia
HP:0500011Moon facies
Периодический (5–29%)4
HP:0000958Dry skin
HP:0001662Bradycardia
HP:0002098Respiratory distress
HP:0004491Large posterior fontanelle
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)