Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Intermediate generalized junctional epidermolysis bullosa
Autosomal recessive
Neonatal
Intermediate maple syrup urine disease
Autosomal recessive
Infancy, Neonatal
Intermediate nemaline myopathy
Autosomal dominant, Autosomal recessive
Neonatal
Intermediate osteopetrosis
Autosomal recessive
Childhood
Intermediate severe Salla disease
Autosomal recessive
Intermediate uveitis
Not applicable
Childhood
Intermittent hydrarthrosis
Adult
Intermittent maple syrup urine disease
Autosomal recessive
Childhood, Infancy, Neonatal
Internal carotid absence
Not applicable
All ages
Interstitial cystitis
Unknown
All ages
Interstitial granulomatous dermatitis with arthritis
Not applicable
Adult
Interstitial lung disease
Interstitial lung disease due to ABCA3 deficiency
Autosomal recessive
Childhood, Infancy, Neonatal
Interstitial lung disease due to SP-C deficiency
Autosomal dominant
Adolescent, Adult, Childhood, Infancy, Neonatal
Interstitial lung disease-brain calcification syndrome
Autosomal recessive
Adolescent, Adult, Childhood, Elderly
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Autosomal recessive
Infancy, Neonatal
Intestinal botulism
All ages
Intestinal lymphangiectasia
Not applicable
All ages
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Autosomal recessive
Neonatal
Intractable diarrhea of infancy
Childhood
Intractable diarrhea-choanal atresia-eye anomalies syndrome
Infancy, Neonatal
Intraductal papillary mucinous carcinoma of pancreas
Not applicable
Adult
Intraductal tubulopapillary neoplasm of pancreas
Adult, Elderly
Intrahepatic cholestasis of pregnancy
Multigenic/multifactorial, Not applicable
Adult