Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Preeclampsia
Not applicable
Adult
Prenatal benign hypophosphatasia
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Autosomal recessive
Antenatal
Pressure-induced localized lipoatrophy
Adult, Elderly
Presumed ocular histoplasmosis syndrome
Not applicable
Presynaptic congenital myasthenic syndromes
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Primary CD59 deficiency
Autosomal recessive
Infancy, Neonatal
Primary Fanconi renotubular syndrome
Autosomal dominant, Autosomal recessive
Childhood, Infancy
Primary Sjögren disease
Not applicable
Adult
Primary adult heart tumor
Not applicable
Adult
Primary anetoderma
Not applicable
All ages
Primary angiitis of the central nervous system
Not applicable
All ages
Primary basilar invagination
Autosomal dominant
All ages
Primary biliary cholangitis
Multigenic/multifactorial, Unknown
Adolescent, Adult, Elderly
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
All ages
Primary bone lymphoma
All ages
Primary central nervous system lymphoma
Not applicable
Adult, Elderly
Primary choroidal lymphoma
Not applicable
Primary ciliary dyskinesia
Autosomal dominant, Autosomal recessive, X-linked recessive
Neonatal
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
X-linked recessive
Childhood
Primary condylar hyperplasia
All ages
Primary congenital hypothyroidism
Primary congenital hypothyroidism without thyroid developmental anomaly
Primary cutaneous CD30+ T-cell lymphoproliferative disease
Adult