Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Autosomal dominant
All ages
Pancreatic insufficiency-anemia-hyperostosis syndrome
Autosomal recessive
Infancy, Neonatal
Pancreatic solid pseudopapillary neoplasm
Not applicable
Adult
Pancreatic triacylglycerol lipase deficiency
Not applicable
Infancy
Pancreatoblastoma
Not applicable
Adult, Childhood
Pancytopenia-developmental delay syndrome
Autosomal recessive
Adolescent
Panhypophysitis
Adolescent, Adult, Childhood, Elderly
Panner disease
Not applicable
Childhood
Panniculitis-induced localized lipodystrophy
All ages
Pantothenate kinase-associated neurodegeneration
Autosomal recessive
All ages
Panuveitis
Not applicable
All ages
Papillary intralymphatic angioendothelioma
Not applicable
Adolescent, Adult, Childhood, Elderly, Infancy
Papillary renal cell carcinoma
Not applicable
Adult, Elderly
Papillary tumor of the pineal region
Not applicable
All ages
Papilloma of choroid plexus
Autosomal dominant
All ages
Papillon-Lefèvre syndrome
Autosomal recessive
Childhood, Infancy, Neonatal
Papular elastorrhexis
Not applicable
All ages
Papular mucinosis of infancy
Papular xanthoma
Not applicable
Adolescent, Adult, Childhood, Elderly, Infancy
Paracetamol poisoning
Not applicable
All ages
Paracoccidioidomycosis
Not applicable
All ages
Paramedian facial cleft
Antenatal, Neonatal
Paramedian nasal cleft
Antenatal, Neonatal
Paramyotonia congenita of Von Eulenburg
Autosomal dominant
Adolescent, Childhood, Infancy, Neonatal