Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Reis-Bücklers corneal dystrophy
Autosomal dominant
Childhood
Relapsing fever
Not applicable
All ages
Relapsing polychondritis
Unknown
All ages
Renal medullary carcinoma
Adult
Renal nutcracker syndrome
Unknown
Adult
Renal tubulopathy-encephalopathy-liver failure syndrome
Autosomal recessive
Infancy, Neonatal
Renin-angiotensin-aldosterone system-blocker-induced angioedema
Multigenic/multifactorial, Not applicable
Adult
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 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 macular dystrophy type 2
Autosomal dominant
Adolescent, Adult
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Autosomal dominant
Adult, Elderly
Retinitis pigmentosa
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
Adolescent, Adult, Childhood
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Autosomal recessive
Childhood