Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Pseudotyphus of California
Not applicable
All ages
Pseudoxanthoma elasticum
Autosomal recessive
All ages
Pseudoxanthoma elasticum-like papillary dermal elastolysis
Not applicable
Adult
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Autosomal recessive
Adolescent, Adult, Childhood
Psoriasis-related juvenile idiopathic arthritis
Unknown
Adolescent, Childhood
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Autosomal recessive
Infancy
Pudendal nerve entrapment syndrome
Not applicable
Adult
Pulmonary alveolar microlithiasis
Autosomal recessive, Not applicable
All ages
Pulmonary blastoma
Multigenic/multifactorial
Adult
Pulmonary capillary hemangiomatosis
Autosomal dominant, Autosomal recessive, Not applicable
All ages
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Unknown
Adult
Pulmonary interstitial glycogenosis
Not applicable
Infancy, Neonatal
Pulmonary nodular lymphoid hyperplasia
Adolescent, Adult, Childhood
Pulmonary non-tuberculous mycobacterial infection
Not applicable
All ages
Pulmonary venoocclusive disease
Autosomal recessive, Not applicable
All ages
Punctate acrokeratoderma freckle-like pigmentation
Childhood
Punctate inner choroidopathy
Adult
Punctate palmoplantar keratoderma type 1
Autosomal dominant
Adolescent, Adult
Punctate palmoplantar keratoderma type 2
Autosomal dominant
Adult
Pure autonomic failure
Not applicable
Adult, Elderly
Pure mitochondrial myopathy
Mitochondrial inheritance
Adolescent, Childhood
Pure squamous carcinoma of the urothelial tract
Not applicable
Purine nucleoside phosphorylase deficiency
Autosomal recessive
Adolescent, Childhood, Infancy
Pustulosis palmaris et plantaris
Autosomal dominant, Autosomal recessive