MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Renal nutcracker syndrome

ORPHA:71273Заболевание
Unknown

Renal pseudohypoaldosteronism type 1

ORPHA:171871Клин. подтип
Autosomal dominant

Renal tubular dysgenesis

ORPHA:3033Мальформация
Autosomal recessive, Not applicable

Renal tubular dysgenesis due to twin-twin transfusion

ORPHA:97367Этиол. подтип
Not applicable

Renal tubular dysgenesis of genetic origin

ORPHA:97369Этиол. подтип
Autosomal recessive

Renal tubulopathy-encephalopathy-liver failure syndrome

ORPHA:254902Заболевание
Autosomal recessive

Renal-hepatic-pancreatic dysplasia

ORPHA:294415Мальформация
Autosomal recessive

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ORPHA:100057Заболевание
Multigenic/multifactorial, Not applicable

Renpenning syndrome

ORPHA:3242Мальформация
X-linked recessive

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha

ORPHA:566231Заболевание
Autosomal dominant

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta

ORPHA:566243Заболевание
Autosomal recessive

Resistance to thyrotropin-releasing hormone syndrome

ORPHA:99832Заболевание
Autosomal recessive

Respiratory bronchiolitis-interstitial lung disease syndrome

ORPHA:79127Заболевание
Not applicable

Restrictive dermopathy

ORPHA:1662Заболевание
Autosomal dominant, Autosomal recessive

Reticular dysgenesis

ORPHA:33355Заболевание
Autosomal recessive

Reticular dysgenesis-like severe combined immunodeficiency

ORPHA:688543Заболевание
Autosomal dominant

Reticular dystrophy of the retinal pigment epithelium

ORPHA:99002Заболевание
Autosomal recessive, Unknown

Reticulate acropigmentation of Kitamura

ORPHA:178307Заболевание
Autosomal dominant

Retiform hemangioendothelioma

ORPHA:458763Заболевание
Not applicable

Retinal capillary malformation

ORPHA:71213Заболевание
Autosomal dominant

Retinal degeneration-nanophthalmos-glaucoma syndrome

ORPHA:1574Мальформация
Autosomal recessive

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

ORPHA:397758Заболевание
Autosomal dominant

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ORPHA:313800Заболевание
Autosomal dominant

Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome

ORPHA:3018Мальформация
Unknown