Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Polydactyly-myopia syndrome
Autosomal dominant
Infancy, Neonatal
Polyembryoma
Not applicable
Adolescent, Adult
Polyendocrine-polyneuropathy syndrome
Autosomal recessive
Childhood
Polyglucosan body myopathy type 1
Autosomal recessive
Adolescent, Childhood
Polyglucosan body myopathy type 2
Autosomal recessive
Adolescent, Adult, Childhood, Elderly
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Polymalformative genetic syndrome with increased risk of developing cancer
Autosomal dominant, Autosomal recessive
All ages
Polymerase proofreading-related polyposis
Autosomal dominant
Childhood
Polymicrogyria
Autosomal dominant, Autosomal recessive, Not applicable, X-linked dominant
Childhood
Polymicrogyria due to TUBB2B mutation
Autosomal dominant
Infancy, Neonatal
Polymicrogyria with optic nerve hypoplasia
Autosomal recessive
Infancy, Neonatal
Polymyositis
Not applicable
Adult, Elderly
Polyneuropathy associated with IgM monoclonal gammopathy
Not applicable
Adult, Elderly
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Autosomal recessive
Childhood
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Adult
Polyostotic fibrous dysplasia
Unknown
Polyrrhinia
Not applicable
Antenatal, Neonatal
Polysyndactyly
Autosomal dominant
Infancy, Neonatal
Polysyndactyly-cardiac malformation syndrome
Autosomal recessive
Infancy, Neonatal
Pontiac fever
Not applicable
All ages
Pontine autosomal dominant microangiopathy with leukoencephalopathy
Autosomal dominant
Adult
Pontine tegmental cap dysplasia
Not applicable
Infancy, Neonatal
Pontocerebellar hypoplasia type 1
Autosomal recessive
Neonatal
Pontocerebellar hypoplasia type 10
Autosomal recessive
Neonatal