MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Renal nutcracker syndrome

ORPHA:71273Kr.
Unknown

Renal pseudohypoaldosteronism type 1

ORPHA:171871Kl. subt.
Autosomal dominant

Renal tubular dysgenesis

ORPHA:3033Malf.
Autosomal recessive, Not applicable

Renal tubular dysgenesis due to twin-twin transfusion

ORPHA:97367Ätl. subt.
Not applicable

Renal tubular dysgenesis of genetic origin

ORPHA:97369Ätl. subt.
Autosomal recessive

Renal tubulopathy-encephalopathy-liver failure syndrome

ORPHA:254902Kr.
Autosomal recessive

Renal-hepatic-pancreatic dysplasia

ORPHA:294415Malf.
Autosomal recessive

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ORPHA:100057Kr.
Multigenic/multifactorial, Not applicable

Renpenning syndrome

ORPHA:3242Malf.
X-linked recessive

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

ORPHA:566231Kr.
Autosomal dominant

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

ORPHA:566243Kr.
Autosomal recessive

Resistance to thyrotropin-releasing hormone syndrome

ORPHA:99832Kr.
Autosomal recessive

Respiratory bronchiolitis-interstitial lung disease syndrome

ORPHA:79127Kr.
Not applicable

Restrictive dermopathy

ORPHA:1662Kr.
Autosomal dominant, Autosomal recessive

Reticular dysgenesis

ORPHA:33355Kr.
Autosomal recessive

Reticular dysgenesis-like severe combined immunodeficiency

ORPHA:688543Kr.
Autosomal dominant

Reticular dystrophy of the retinal pigment epithelium

ORPHA:99002Kr.
Autosomal recessive, Unknown

Reticulate acropigmentation of Kitamura

ORPHA:178307Kr.
Autosomal dominant

Retiform hemangioendothelioma

ORPHA:458763Kr.
Not applicable

Retinal capillary malformation

ORPHA:71213Kr.
Autosomal dominant

Retinal degeneration-nanophthalmos-glaucoma syndrome

ORPHA:1574Malf.
Autosomal recessive

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

ORPHA:397758Kr.
Autosomal dominant

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

ORPHA:313800Kr.
Autosomal dominant

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

ORPHA:3018Malf.
Unknown