Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Pleuro-pericardial cyst
Not applicable
Polydactyly of a biphalangeal thumb and/or hallux
Autosomal dominant
Infancy, Neonatal
Polydactyly of a triphalangeal thumb
Autosomal dominant
Polydactyly of an index finger
Autosomal dominant
Infancy, Neonatal
Polysyndactyly
Autosomal dominant
Infancy, Neonatal
Pontine tegmental cap dysplasia
Not applicable
Infancy, Neonatal
Postaxial polydactyly type A
Autosomal recessive
Antenatal
Postaxial polydactyly type B
Autosomal dominant
Antenatal
Posterior urethral valve
Autosomal recessive, Not applicable, X-linked recessive
All ages
Primary basilar invagination
Autosomal dominant
All ages
Primary pulmonary hypoplasia
Neonatal
Primary tethered cord syndrome
Infancy, Neonatal
Pulmonary arteriovenous malformation
Multigenic/multifactorial, Unknown
Infancy
Pulmonary atresia with ventricular septal defect
Pulmonary atresia-intact ventricular septum syndrome
Antenatal, Infancy, Neonatal
Renal agenesis
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Renal dysplasia
Autosomal dominant, Not applicable
All ages, Antenatal
Renal hypoplasia
Autosomal dominant, Not applicable
All ages
Retroperitoneal arteriovenous malformation
Not applicable
Rieger anomaly
Autosomal dominant
Neonatal
Situs ambiguus
Multigenic/multifactorial
Antenatal
Situs inversus totalis
Autosomal dominant, Autosomal recessive, Not applicable
Small bowel atresia
Autosomal recessive, Not applicable, Unknown
Antenatal
Spinal cord arteriovenous malformation
Not applicable