Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Familial partial lipodystrophy, Köbberling type
Autosomal dominant
Childhood
Familial patent arterial duct
Autosomal dominant
Familial peripheral male-limited precocious puberty
Autosomal dominant
Childhood
Familial platelet disorder with associated myeloid malignancy
Autosomal dominant
Familial porencephaly
Autosomal dominant
Infancy, Neonatal
Familial porphyria cutanea tarda
Autosomal dominant
Familial primary hyperparathyroidism
Autosomal dominant
Childhood
Familial primary localized cutaneous amyloidosis
Autosomal dominant
All ages
Familial progressive hyper- and hypopigmentation
Autosomal dominant
Infancy, Neonatal
Familial progressive hyperpigmentation
Autosomal dominant
Infancy, Neonatal
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Autosomal dominant
Childhood, Infancy
Familial prostate cancer
Not applicable
Adult
Familial pseudohyperkalemia
Autosomal dominant
All ages
Familial pterygium of the conjunctiva
Autosomal dominant
Adolescent, Adult
Familial reactive perforating collagenosis
Childhood
Familial recurrent peripheral facial palsy
Adolescent, Adult, Childhood
Familial renal glucosuria
Autosomal dominant, Autosomal recessive
All ages
Familial retinal arterial macroaneurysm
Autosomal recessive
Childhood
Familial scaphocephaly syndrome, McGillivray type
Autosomal dominant
Infancy, Neonatal
Familial schizencephaly
Autosomal recessive
Antenatal, Neonatal
Familial spontaneous pneumothorax
Autosomal dominant
Adolescent, Adult
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Autosomal recessive
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Autosomal recessive
Infancy, Neonatal
Familial supernumerary nipples
Infancy, Neonatal