Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Ptosis-strabismus-ectopic pupils syndrome
Autosomal dominant
Childhood, Infancy, Neonatal
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Autosomal recessive
Infancy, Neonatal
Ptosis-vocal cord paralysis syndrome
Neonatal
Pudendal nerve entrapment syndrome
Not applicable
Adult
Pulmonary Langerhans cell histiocytosis
Not applicable
Pulmonary alveolar microlithiasis
Autosomal recessive, Not applicable
All ages
Pulmonary arterial hypertension
Autosomal dominant, Not applicable
All ages
Pulmonary arterial hypertension associated with HIV infection
Not applicable
Adult
Pulmonary arterial hypertension associated with another disease
Not applicable
All ages
Pulmonary arterial hypertension associated with chronic hemolytic anemia
Multigenic/multifactorial, Not applicable
All ages
Pulmonary arterial hypertension associated with congenital heart disease
Not applicable
All ages
Pulmonary arterial hypertension associated with connective tissue disease
Not applicable
All ages
Pulmonary arterial hypertension associated with portal hypertension
No data available
Adult
Pulmonary arterial hypertension associated with schistosomiasis
Not applicable
All ages
Pulmonary arteriovenous malformation
Multigenic/multifactorial, Unknown
Infancy
Pulmonary atresia with ventricular septal defect
Pulmonary atresia-intact ventricular septum syndrome
Antenatal, Infancy, Neonatal
Pulmonary blastoma
Multigenic/multifactorial
Adult
Pulmonary capillary hemangiomatosis
Autosomal dominant, Autosomal recessive, Not applicable
All ages
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Unknown
Adult
Pulmonary fungal infections in patients deemed at risk
Not applicable
All ages
Pulmonary interstitial glycogenosis
Not applicable
Infancy, Neonatal
Pulmonary nodular lymphoid hyperplasia
Adolescent, Adult, Childhood
Pulmonary non-tuberculous mycobacterial infection
Not applicable
All ages