MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Rare ovarian cancer

ORPHA:213500Kat.

Rare pulmonary hypertension

ORPHA:71198Kat.

Rare surgically correctable form of primary aldosteronism

ORPHA:231637Kat.
Not applicable

Rare thyroid carcinoma

ORPHA:100088Kat.

Rare thyroid tumor

ORPHA:100087Kat.

Rare urogenital tumor

ORPHA:182114Kat.

Rasmussen subacute encephalitis

ORPHA:1929Kr.
Not applicable

Rat-bite fever

ORPHA:31205Kr.

Rauch-Steindl syndrome

ORPHA:659642Malf.

Ravine syndrome

ORPHA:99852Kr.
Autosomal recessive

Reactive arthritis

ORPHA:29207Kr.
Multigenic/multifactorial, Not applicable

Recessive KLHL7-related disorder

ORPHA:603699Kl. gruppe
Autosomal recessive

Recessive X-linked ichthyosis

ORPHA:461Kr.
X-linked recessive

Recessive dystrophic epidermolysis bullosa inversa

ORPHA:79409Kr.
Autosomal recessive

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

ORPHA:280384Kr.
Autosomal recessive

Recessive mitochondrial ataxia syndrome

ORPHA:94125Kr.
Autosomal recessive

Recombinant 8 syndrome

ORPHA:96167Malf.
Unknown

Recurrent Neisseria infections due to factor D deficiency

ORPHA:169467Kr.
Autosomal recessive

Recurrent hepatitis C virus induced liver disease in liver transplant recipients

ORPHA:90052spez. Sit.
Not applicable

Recurrent infections associated with rare immunoglobulin isotypes deficiency

ORPHA:183675Kr.
Unknown

Recurrent infections due to specific granule deficiency

ORPHA:169142Kr.
Autosomal recessive

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

ORPHA:480864Kr.
Autosomal recessive

Recurrent respiratory papillomatosis

ORPHA:60032Kr.
Not applicable

Reducing body myopathy

ORPHA:97239Kr.
Not applicable, X-linked dominant