MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

ORPHA:53583Ауру
Autosomal dominant

Paroxysmal exertion-induced dyskinesia

ORPHA:98811Ауру
Autosomal dominant, Not applicable

Paroxysmal extreme pain disorder

ORPHA:46348Ауру
Autosomal dominant

Paroxysmal hemicrania

ORPHA:157835Ауру
Not applicable

Paroxysmal kinesigenic dyskinesia

ORPHA:98809Ауру
Autosomal dominant, Not applicable

Paroxysmal nocturnal hemoglobinuria

ORPHA:447Ауру
Not applicable

Paroxysmal non-kinesigenic dyskinesia

ORPHA:98810Ауру
Autosomal dominant, Not applicable

Partial androgen insensitivity syndrome

ORPHA:90797Ауру
X-linked recessive

Partial atrioventricular septal defect

ORPHA:1330Морф.
Not applicable

Partial atrioventricular septal defect with ventricular hypoplasia

ORPHA:576232Клин. под.
Not applicable

Partial atrioventricular septal defect without ventricular hypoplasia

ORPHA:576235Клин. под.
Not applicable

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

ORPHA:401959Мальф.
Autosomal recessive

Partial cryptophthalmia

ORPHA:98950Клин. под.

Partial deep dermal and full thickness burns

ORPHA:90076Жағдай
Not applicable

Partial deletion of the short arm of chromosome 7 syndrome

ORPHA:261911Сан.

Partial duplication of the long arm of chromosome 14 syndrome

ORPHA:262941Сан.

Partial hydatidiform mole

ORPHA:254693Клин. под.
Not applicable

Partial pancreatic agenesis

ORPHA:2805Морф.
Autosomal recessive

Partially involuting congenital hemangioma

ORPHA:458785Ауру
Not applicable

Partington syndrome

ORPHA:94083Мальф.
X-linked recessive

Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

ORPHA:228190Мальф.
Autosomal dominant

Patent urachus

ORPHA:431341Морф.
Not applicable

Paternal 20q13.2q13.3 microdeletion syndrome

ORPHA:261304Мальф.
Not applicable

Paternal uniparental disomy of chromosome 1 syndrome

ORPHA:251004Мальф.
Not applicable, Unknown