MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

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. аномалия
Not applicable

Partial atrioventricular septal defect with ventricular hypoplasia

ORPHA:576232Клин. подтип
Not applicable

Partial atrioventricular septal defect without ventricular hypoplasia

ORPHA:576235Клин. подтип
Not applicable

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

ORPHA:401959Мальформация
Autosomal recessive

Partial cryptophthalmia

ORPHA:98950Клин. подтип

Partial deep dermal and full thickness burns

ORPHA:90076Особая клин. ситуация
Not applicable

Partial deletion of the short arm of chromosome 7 syndrome

ORPHA:261911Категория

Partial duplication of the long arm of chromosome 14 syndrome

ORPHA:262941Категория

Partial hydatidiform mole

ORPHA:254693Клин. подтип
Not applicable

Partial pancreatic agenesis

ORPHA:2805Морф. аномалия
Autosomal recessive

Partially involuting congenital hemangioma

ORPHA:458785Заболевание
Not applicable

Partington syndrome

ORPHA:94083Мальформация
X-linked recessive

Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

ORPHA:228190Мальформация
Autosomal dominant

Patent urachus

ORPHA:431341Морф. аномалия
Not applicable

Paternal 20q13.2q13.3 microdeletion syndrome

ORPHA:261304Мальформация
Not applicable

Paternal uniparental disomy of chromosome 1 syndrome

ORPHA:251004Мальформация
Not applicable, Unknown