MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Polydactyly-myopia syndrome

ORPHA:2917Порок
Autosomal dominant

Polyembryoma

ORPHA:180229Заболевание
Not applicable

Polyendocrine-polyneuropathy syndrome

ORPHA:453533Заболевание
Autosomal recessive

Polyglucosan body myopathy type 1

ORPHA:397937Заболевание
Autosomal recessive

Polyglucosan body myopathy type 2

ORPHA:456369Заболевание
Autosomal recessive

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

ORPHA:500533Заболевание
Autosomal recessive

Polymalformative genetic syndrome with increased risk of developing cancer

ORPHA:183422Кат.
Autosomal dominant, Autosomal recessive

Polymerase proofreading-related polyposis

ORPHA:447877Заболевание
Autosomal dominant

Polymicrogyria

ORPHA:35981Клин. гр.
Autosomal dominant, Autosomal recessive, Not applicable, X-linked dominant

Polymicrogyria due to TUBB2B mutation

ORPHA:300573Порок
Autosomal dominant

Polymicrogyria with optic nerve hypoplasia

ORPHA:250972Порок
Autosomal recessive

Polymyositis

ORPHA:732Заболевание
Not applicable

Polyneuropathy associated with IgM monoclonal gammopathy

ORPHA:209004Заболевание
Not applicable

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

ORPHA:171848Заболевание
Autosomal recessive

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

ORPHA:2928Порок

Polyostotic fibrous dysplasia

ORPHA:93276Клин. подт.
Unknown

Polyrrhinia

ORPHA:141091Порок
Not applicable

Polysyndactyly

ORPHA:93338Морф.
Autosomal dominant

Polysyndactyly-cardiac malformation syndrome

ORPHA:2934Порок
Autosomal recessive

Pontiac fever

ORPHA:99748Заболевание
Not applicable

Pontine autosomal dominant microangiopathy with leukoencephalopathy

ORPHA:477749Заболевание
Autosomal dominant

Pontine tegmental cap dysplasia

ORPHA:269229Морф.
Not applicable

Pontocerebellar hypoplasia type 1

ORPHA:2254Порок
Autosomal recessive

Pontocerebellar hypoplasia type 10

ORPHA:411493Порок
Autosomal recessive