MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Preeclampsia

ORPHA:275555Kr.
Not applicable

Prenatal benign hypophosphatasia

ORPHA:247638Kl. subt.
Autosomal dominant, Autosomal recessive

Prenatal-onset spinal muscular atrophy with congenital bone fractures

ORPHA:486811Kr.
Autosomal recessive

Pressure-induced localized lipoatrophy

ORPHA:90160Kr.

Presumed ocular histoplasmosis syndrome

ORPHA:714160Kr.
Not applicable

Presynaptic congenital myasthenic syndromes

ORPHA:98914Ätl. subt.
Autosomal dominant, Autosomal recessive

Primary CD59 deficiency

ORPHA:169464Kr.
Autosomal recessive

Primary Fanconi renotubular syndrome

ORPHA:3337Kr.
Autosomal dominant, Autosomal recessive

Primary Sjögren disease

ORPHA:289390Kr.
Not applicable

Primary adult heart tumor

ORPHA:874Kr.
Not applicable

Primary anetoderma

ORPHA:228272Kr.
Not applicable

Primary angiitis of the central nervous system

ORPHA:140989Kr.
Not applicable

Primary basilar invagination

ORPHA:2285Morph.
Autosomal dominant

Primary biliary cholangitis

ORPHA:186Kr.
Multigenic/multifactorial, Unknown

Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

ORPHA:562639Kr.

Primary bone lymphoma

ORPHA:314684Kr.

Primary central nervous system lymphoma

ORPHA:46135Kr.
Not applicable

Primary choroidal lymphoma

ORPHA:714046Kr.
Not applicable

Primary ciliary dyskinesia

ORPHA:244Kr.
Autosomal dominant, Autosomal recessive, X-linked recessive

Primary ciliary dyskinesia-retinitis pigmentosa syndrome

ORPHA:247522Kr.
X-linked recessive

Primary condylar hyperplasia

ORPHA:477781Kr.

Primary congenital hypothyroidism

ORPHA:226295Kl. gruppe

Primary congenital hypothyroidism without thyroid developmental anomaly

ORPHA:95714Kat.

Primary cutaneous CD30+ T-cell lymphoproliferative disease

ORPHA:541Kl. gruppe