Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Pontocerebellar hypoplasia type 11
Autosomal recessive
Antenatal, Neonatal
Pontocerebellar hypoplasia type 12
Autosomal recessive
Antenatal, Neonatal
Pontocerebellar hypoplasia type 13
Autosomal recessive
Neonatal
Pontocerebellar hypoplasia type 14
Autosomal recessive
Antenatal, Neonatal
Pontocerebellar hypoplasia type 2
Autosomal recessive
Infancy, Neonatal
Pontocerebellar hypoplasia type 3
Autosomal recessive
Neonatal
Pontocerebellar hypoplasia type 4
Autosomal recessive
Antenatal
Pontocerebellar hypoplasia type 6
Autosomal recessive
Neonatal
Pontocerebellar hypoplasia type 7
Autosomal recessive
Infancy, Neonatal
Pontocerebellar hypoplasia type 8
Autosomal recessive
Infancy, Neonatal
Pontocerebellar hypoplasia type 9
Autosomal recessive
Infancy, Neonatal
Poorly differentiated thymic neuroendocrine carcinoma
Not applicable
Adult
Popliteal pterygium syndrome
Autosomal dominant
Antenatal, Neonatal
Porencephaly
Multigenic/multifactorial, Not applicable
Antenatal, Infancy, Neonatal
Porencephaly-cerebellar hypoplasia-internal malformations syndrome
Antenatal, Neonatal
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Autosomal recessive
Infancy, Neonatal
Porokeratosis of Mibelli
Autosomal dominant, Not applicable
Adolescent, Adult, Childhood
Porokeratosis plantaris palmaris et disseminata
Autosomal dominant, X-linked dominant
Adolescent, Adult
Porokeratotic eccrine ostial and dermal duct nevus
Not applicable
Infancy, Neonatal
Porphyria
Autosomal dominant, Autosomal recessive
All ages
Porphyria cutanea tarda
Autosomal dominant, Multigenic/multifactorial
Adult
Porphyria due to ALA dehydratase deficiency
Autosomal recessive
Adolescent, Childhood
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Antenatal
Portosinusoidal vascular disease
Adult