MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

ORPHA:53583Kr.
Autosomal dominant

Paroxysmal exertion-induced dyskinesia

ORPHA:98811Kr.
Autosomal dominant, Not applicable

Paroxysmal extreme pain disorder

ORPHA:46348Kr.
Autosomal dominant

Paroxysmal hemicrania

ORPHA:157835Kr.
Not applicable

Paroxysmal kinesigenic dyskinesia

ORPHA:98809Kr.
Autosomal dominant, Not applicable

Paroxysmal nocturnal hemoglobinuria

ORPHA:447Kr.
Not applicable

Paroxysmal non-kinesigenic dyskinesia

ORPHA:98810Kr.
Autosomal dominant, Not applicable

Partial androgen insensitivity syndrome

ORPHA:90797Kr.
X-linked recessive

Partial atrioventricular septal defect

ORPHA:1330Morph.
Not applicable

Partial atrioventricular septal defect with ventricular hypoplasia

ORPHA:576232Kl. subt.
Not applicable

Partial atrioventricular septal defect without ventricular hypoplasia

ORPHA:576235Kl. subt.
Not applicable

Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

ORPHA:401959Malf.
Autosomal recessive

Partial cryptophthalmia

ORPHA:98950Kl. subt.

Partial deep dermal and full thickness burns

ORPHA:90076spez. Sit.
Not applicable

Partial deletion of the short arm of chromosome 7 syndrome

ORPHA:261911Kat.

Partial duplication of the long arm of chromosome 14 syndrome

ORPHA:262941Kat.

Partial hydatidiform mole

ORPHA:254693Kl. subt.
Not applicable

Partial pancreatic agenesis

ORPHA:2805Morph.
Autosomal recessive

Partially involuting congenital hemangioma

ORPHA:458785Kr.
Not applicable

Partington syndrome

ORPHA:94083Malf.
X-linked recessive

Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

ORPHA:228190Malf.
Autosomal dominant

Patent urachus

ORPHA:431341Morph.
Not applicable

Paternal 20q13.2q13.3 microdeletion syndrome

ORPHA:261304Malf.
Not applicable

Paternal uniparental disomy of chromosome 1 syndrome

ORPHA:251004Malf.
Not applicable, Unknown