Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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-like disease
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
Pentosuria
Autosomal recessive
Infancy, Neonatal
Perifoveal exudative vascular anomalous complex
Unknown
Perihilar cholangiocarcinoma
Not applicable
Adult
Periodic fever-immunodeficiency-thrombocytopenia syndrome
Autosomal recessive
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Autosomal dominant
Neonatal
Periodic paralysis with later-onset distal motor neuropathy
Mitochondrial inheritance
Adolescent, Adult
Periodic paralysis with transient compartment-like syndrome
Autosomal dominant
All ages
Periodontal Ehlers-Danlos syndrome
Autosomal dominant
Childhood
Perioral myoclonia with absences
Childhood
Peripartum cardiomyopathy
Unknown
Adult
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Autosomal dominant
Infancy, Neonatal
Peripheral motor neuropathy-dysautonomia syndrome
Unknown
Childhood
Peripheral primitive neuroectodermal tumor
Not applicable
Adolescent, Adult, Childhood
Peritoneal inclusion cyst
Unknown
Adult
Perivascular epithelioid cell neoplasm
Adolescent, Adult, Childhood, Elderly
Peroxisomal acyl-CoA oxidase deficiency
Autosomal recessive
Neonatal