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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Renal nutcracker syndrome

ORPHA:71273Ауру
Unknown

Renal pseudohypoaldosteronism type 1

ORPHA:171871Клин. под.
Autosomal dominant

Renal tubular dysgenesis

ORPHA:3033Мальф.
Autosomal recessive, Not applicable

Renal tubular dysgenesis due to twin-twin transfusion

ORPHA:97367Этио. под.
Not applicable

Renal tubular dysgenesis of genetic origin

ORPHA:97369Этио. под.
Autosomal recessive

Renal tubulopathy-encephalopathy-liver failure syndrome

ORPHA:254902Ауру
Autosomal recessive

Renal-hepatic-pancreatic dysplasia

ORPHA:294415Мальф.
Autosomal recessive

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ORPHA:100057Ауру
Multigenic/multifactorial, Not applicable

Renpenning syndrome

ORPHA:3242Мальф.
X-linked recessive

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

ORPHA:566231Ауру
Autosomal dominant

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

ORPHA:566243Ауру
Autosomal recessive

Resistance to thyrotropin-releasing hormone syndrome

ORPHA:99832Ауру
Autosomal recessive

Respiratory bronchiolitis-interstitial lung disease syndrome

ORPHA:79127Ауру
Not applicable

Restrictive dermopathy

ORPHA:1662Ауру
Autosomal dominant, Autosomal recessive

Reticular dysgenesis

ORPHA:33355Ауру
Autosomal recessive

Reticular dysgenesis-like severe combined immunodeficiency

ORPHA:688543Ауру
Autosomal dominant

Reticular dystrophy of the retinal pigment epithelium

ORPHA:99002Ауру
Autosomal recessive, Unknown

Reticulate acropigmentation of Kitamura

ORPHA:178307Ауру
Autosomal dominant

Retiform hemangioendothelioma

ORPHA:458763Ауру
Not applicable

Retinal capillary malformation

ORPHA:71213Ауру
Autosomal dominant

Retinal degeneration-nanophthalmos-glaucoma syndrome

ORPHA:1574Мальф.
Autosomal recessive

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

ORPHA:397758Ауру
Autosomal dominant

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

ORPHA:313800Ауру
Autosomal dominant

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

ORPHA:3018Мальф.
Unknown