MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Reis-Bücklers corneal dystrophy

ORPHA:98961Kr.
Autosomal dominant

Relapsing fever

ORPHA:91547Kr.
Not applicable

Relapsing polychondritis

ORPHA:728Kr.
Unknown

Renal medullary carcinoma

ORPHA:319319Kr.

Renal nutcracker syndrome

ORPHA:71273Kr.
Unknown

Renal tubulopathy-encephalopathy-liver failure syndrome

ORPHA:254902Kr.
Autosomal recessive

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ORPHA:100057Kr.
Multigenic/multifactorial, Not applicable

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 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 macular dystrophy type 2

ORPHA:319640Kr.
Autosomal dominant

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

ORPHA:247691Kr.
Autosomal dominant

Retinitis pigmentosa

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

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

ORPHA:436245Kr.
Autosomal recessive