Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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
Porencephaly-cerebellar hypoplasia-internal malformations syndrome
Antenatal, Neonatal
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Autosomal recessive
Infancy, Neonatal
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Antenatal
Postaxial acrofacial dysostosis
Autosomal recessive
Antenatal, Neonatal
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Autosomal dominant
Antenatal, Neonatal
Postaxial polydactyly-dental and vertebral anomalies syndrome
Neonatal
Postaxial tetramelic oligodactyly
Neonatal
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Autosomal dominant
Childhood
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Autosomal dominant
Infancy
Potocki-Shaffer syndrome
Unknown
Infancy, Neonatal
Preaxial polydactyly-colobomata-intellectual disability syndrome
Autosomal recessive
Infancy, Neonatal
Primary laryngeal lymphangioma
Infancy, Neonatal
Proboscis lateralis
Not applicable
Antenatal, Infancy, Neonatal
Progeria-short stature-pigmented nevi syndrome
Unknown
Infancy, Neonatal
Progressive deafness with stapes fixation
Autosomal recessive
Childhood
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Autosomal recessive
Infancy
Progressive non-infectious anterior vertebral fusion
Not applicable
Childhood
Progressive osseous heteroplasia
Autosomal dominant
Childhood, Infancy