Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Renal nutcracker syndrome
Unknown
Adult
Renal pseudohypoaldosteronism type 1
Autosomal dominant
Infancy, Neonatal
Renal tubular dysgenesis
Autosomal recessive, Not applicable
Antenatal
Renal tubular dysgenesis due to twin-twin transfusion
Not applicable
Renal tubular dysgenesis of genetic origin
Autosomal recessive
Renal tubulopathy-encephalopathy-liver failure syndrome
Autosomal recessive
Infancy, Neonatal
Renal-hepatic-pancreatic dysplasia
Autosomal recessive
Antenatal, Neonatal
Renin-angiotensin-aldosterone system-blocker-induced angioedema
Multigenic/multifactorial, Not applicable
Adult
Renpenning syndrome
X-linked recessive
Infancy, Neonatal
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
Autosomal dominant
All ages
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
Autosomal recessive
All ages
Resistance to thyrotropin-releasing hormone syndrome
Autosomal recessive
Infancy
Respiratory bronchiolitis-interstitial lung disease syndrome
Not applicable
Adult
Restrictive dermopathy
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Reticular dysgenesis
Autosomal recessive
Infancy, Neonatal
Reticular dysgenesis-like severe combined immunodeficiency
Autosomal dominant
Reticular dystrophy of the retinal pigment epithelium
Autosomal recessive, Unknown
Adult
Reticulate acropigmentation of Kitamura
Autosomal dominant
Adolescent, Adult, Childhood
Retiform hemangioendothelioma
Not applicable
Adolescent, Adult
Retinal capillary malformation
Autosomal dominant
All ages
Retinal degeneration-nanophthalmos-glaucoma syndrome
Autosomal recessive
Adult
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Autosomal dominant
Adult
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
Autosomal dominant
Childhood
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
Unknown
Infancy, Neonatal