MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Renal nutcracker syndrome

ORPHA:71273Disease
Unknown

Renal pseudohypoaldosteronism type 1

ORPHA:171871Clin. sub.
Autosomal dominant

Renal tubular dysgenesis

ORPHA:3033Malform.
Autosomal recessive, Not applicable

Renal tubular dysgenesis due to twin-twin transfusion

ORPHA:97367Etio. sub.
Not applicable

Renal tubular dysgenesis of genetic origin

ORPHA:97369Etio. sub.
Autosomal recessive

Renal tubulopathy-encephalopathy-liver failure syndrome

ORPHA:254902Disease
Autosomal recessive

Renal-hepatic-pancreatic dysplasia

ORPHA:294415Malform.
Autosomal recessive

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ORPHA:100057Disease
Multigenic/multifactorial, Not applicable

Renpenning syndrome

ORPHA:3242Malform.
X-linked recessive

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

ORPHA:566231Disease
Autosomal dominant

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

ORPHA:566243Disease
Autosomal recessive

Resistance to thyrotropin-releasing hormone syndrome

ORPHA:99832Disease
Autosomal recessive

Respiratory bronchiolitis-interstitial lung disease syndrome

ORPHA:79127Disease
Not applicable

Restrictive dermopathy

ORPHA:1662Disease
Autosomal dominant, Autosomal recessive

Reticular dysgenesis

ORPHA:33355Disease
Autosomal recessive

Reticular dysgenesis-like severe combined immunodeficiency

ORPHA:688543Disease
Autosomal dominant

Reticular dystrophy of the retinal pigment epithelium

ORPHA:99002Disease
Autosomal recessive, Unknown

Reticulate acropigmentation of Kitamura

ORPHA:178307Disease
Autosomal dominant

Retiform hemangioendothelioma

ORPHA:458763Disease
Not applicable

Retinal capillary malformation

ORPHA:71213Disease
Autosomal dominant

Retinal degeneration-nanophthalmos-glaucoma syndrome

ORPHA:1574Malform.
Autosomal recessive

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

ORPHA:397758Disease
Autosomal dominant

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

ORPHA:313800Disease
Autosomal dominant

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

ORPHA:3018Malform.
Unknown