Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Postorgasmic illness syndrome
Not applicable
Adolescent, Adult
Postpartum psychosis
Not applicable
Adult
Postpoliomyelitis syndrome
Not applicable
Adolescent, Adult, Elderly
Postsynaptic congenital myasthenic syndrome
Autosomal recessive
Infancy, Neonatal
Posttransplant acute limbic encephalitis
All ages
Postural orthostatic tachycardia syndrome due to NET deficiency
Autosomal dominant
Adult
Potassium-aggravated myotonia
Autosomal dominant
Childhood
Potocki-Shaffer syndrome
Unknown
Infancy, Neonatal
Pouchitis
Not applicable
All ages
PrP systemic amyloidosis
Autosomal dominant
Adult
Prader-Willi syndrome
Autosomal dominant, Not applicable
Antenatal, Neonatal
Prader-Willi syndrome due to imprinting mutation
Not applicable
Antenatal, Neonatal
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Not applicable
Adolescent, Adult
Prader-Willi syndrome due to paternal 15q11q13 deletion
Autosomal dominant
Antenatal, Neonatal
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Autosomal dominant
Antenatal, Neonatal
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Autosomal dominant
Antenatal, Neonatal
Prader-Willi syndrome due to translocation
Not applicable
Antenatal, Neonatal
Prader-Willi-like syndrome
Neonatal
Pre-Descemet corneal dystrophy
Unknown
Adult
Preaxial polydactyly-colobomata-intellectual disability syndrome
Autosomal recessive
Infancy, Neonatal
Precursor B-cell acute lymphoblastic leukemia
Not applicable
Childhood
Precursor T-cell acute lymphoblastic leukemia
Not applicable
Adolescent, Adult
Predisposition to invasive fungal disease due to CARD9 deficiency
Autosomal recessive
Predisposition to severe viral infection due to IRF7 deficiency
Autosomal recessive
All ages