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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

ORPHA:53583Заболевание
Autosomal dominant

Paroxysmal exertion-induced dyskinesia

ORPHA:98811Заболевание
Autosomal dominant, Not applicable

Paroxysmal extreme pain disorder

ORPHA:46348Заболевание
Autosomal dominant

Paroxysmal hemicrania

ORPHA:157835Заболевание
Not applicable

Paroxysmal kinesigenic dyskinesia

ORPHA:98809Заболевание
Autosomal dominant, Not applicable

Paroxysmal nocturnal hemoglobinuria

ORPHA:447Заболевание
Not applicable

Paroxysmal non-kinesigenic dyskinesia

ORPHA:98810Заболевание
Autosomal dominant, Not applicable

Partial androgen insensitivity syndrome

ORPHA:90797Заболевание
X-linked recessive

Partial atrioventricular septal defect

ORPHA:1330Морф.
Not applicable

Partial atrioventricular septal defect with ventricular hypoplasia

ORPHA:576232Клин. подт.
Not applicable

Partial atrioventricular septal defect without ventricular hypoplasia

ORPHA:576235Клин. подт.
Not applicable

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

ORPHA:401959Порок
Autosomal recessive

Partial cryptophthalmia

ORPHA:98950Клин. подт.

Partial deep dermal and full thickness burns

ORPHA:90076Ситуация
Not applicable

Partial deletion of the short arm of chromosome 7 syndrome

ORPHA:261911Кат.

Partial duplication of the long arm of chromosome 14 syndrome

ORPHA:262941Кат.

Partial hydatidiform mole

ORPHA:254693Клин. подт.
Not applicable

Partial pancreatic agenesis

ORPHA:2805Морф.
Autosomal recessive

Partially involuting congenital hemangioma

ORPHA:458785Заболевание
Not applicable

Partington syndrome

ORPHA:94083Порок
X-linked recessive

Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

ORPHA:228190Порок
Autosomal dominant

Patent urachus

ORPHA:431341Морф.
Not applicable

Paternal 20q13.2q13.3 microdeletion syndrome

ORPHA:261304Порок
Not applicable

Paternal uniparental disomy of chromosome 1 syndrome

ORPHA:251004Порок
Not applicable, Unknown