Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Peeling skin syndrome type A
Autosomal recessive
Infancy, Neonatal
Peeling skin syndrome type B
Autosomal recessive
Infancy, Neonatal
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Autosomal recessive
Infancy
Pelizaeus-Merzbacher disease
X-linked dominant, X-linked recessive
All ages
Pelizaeus-Merzbacher disease in female carriers
X-linked recessive
Adult
Pelizaeus-Merzbacher disease, classic form
X-linked recessive
Infancy, Neonatal
Pelizaeus-Merzbacher disease, connatal form
X-linked recessive
Infancy, Neonatal
Pelizaeus-Merzbacher disease, transitional form
X-linked recessive
Infancy, Neonatal
Pelizaeus-Merzbacher-like disease
Autosomal recessive
Infancy, Neonatal
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Autosomal recessive
Infancy, Neonatal
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Autosomal recessive
Infancy, Neonatal
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Autosomal recessive
Infancy, Neonatal
Pelvic arteriovenous malformation
Not applicable
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Antenatal, Neonatal
Pelvis-shoulder dysplasia
Autosomal dominant
Infancy, Neonatal
Pelviscapular dysplasia
Autosomal recessive
Infancy, Neonatal
Pemphigoid gestationis
Adolescent, Adult
Pemphigus erythematosus
Adolescent, Adult, Childhood
Pemphigus foliaceus
All ages
Pemphigus vegetans
All ages
Pemphigus vulgaris
Not applicable
Adult, Childhood, Elderly
Pendred syndrome
Autosomal recessive
Infancy, Neonatal
Penile agenesis
Antenatal, Neonatal
Penoscrotal transposition
Autosomal recessive, Not applicable, X-linked recessive
Infancy, Neonatal