Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Autosomal dominant
Childhood
Paroxysmal exertion-induced dyskinesia
Autosomal dominant, Not applicable
Adolescent, Adult, Childhood, Infancy
Paroxysmal extreme pain disorder
Autosomal dominant
Infancy, Neonatal
Paroxysmal hemicrania
Not applicable
Adolescent, Adult, Childhood, Elderly
Paroxysmal kinesigenic dyskinesia
Autosomal dominant, Not applicable
Adolescent, Adult, Childhood, Infancy
Paroxysmal nocturnal hemoglobinuria
Not applicable
All ages
Paroxysmal non-kinesigenic dyskinesia
Autosomal dominant, Not applicable
Adolescent, Adult, Childhood, Infancy
Partial androgen insensitivity syndrome
X-linked recessive
All ages
Partial atrioventricular septal defect
Not applicable
All ages
Partial atrioventricular septal defect with ventricular hypoplasia
Not applicable
Partial atrioventricular septal defect without ventricular hypoplasia
Not applicable
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Autosomal recessive
Neonatal
Partial cryptophthalmia
Antenatal, Neonatal
Partial deep dermal and full thickness burns
Not applicable
All ages
Partial deletion of the short arm of chromosome 7 syndrome
Antenatal
Partial duplication of the long arm of chromosome 14 syndrome
Partial hydatidiform mole
Not applicable
Adult
Partial pancreatic agenesis
Autosomal recessive
Infancy, Neonatal
Partially involuting congenital hemangioma
Not applicable
Antenatal
Partington syndrome
X-linked recessive
Childhood
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Autosomal dominant
Infancy, Neonatal
Patent urachus
Not applicable
Neonatal
Paternal 20q13.2q13.3 microdeletion syndrome
Not applicable
Antenatal, Neonatal
Paternal uniparental disomy of chromosome 1 syndrome
Not applicable, Unknown
Infancy, Neonatal