MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Reis-Bücklers corneal dystrophy

ORPHA:98961Disease
Autosomal dominant

Relapsing fever

ORPHA:91547Disease
Not applicable

Relapsing polychondritis

ORPHA:728Disease
Unknown

Renal medullary carcinoma

ORPHA:319319Disease

Renal nutcracker syndrome

ORPHA:71273Disease
Unknown

Renal tubulopathy-encephalopathy-liver failure syndrome

ORPHA:254902Disease
Autosomal recessive

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ORPHA:100057Disease
Multigenic/multifactorial, Not applicable

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 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 macular dystrophy type 2

ORPHA:319640Disease
Autosomal dominant

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

ORPHA:247691Disease
Autosomal dominant

Retinitis pigmentosa

ORPHA:791Disease
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

ORPHA:436245Disease
Autosomal recessive