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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Polydactyly-myopia syndrome

ORPHA:2917Malform.
Autosomal dominant

Polyembryoma

ORPHA:180229Disease
Not applicable

Polyendocrine-polyneuropathy syndrome

ORPHA:453533Disease
Autosomal recessive

Polyglucosan body myopathy type 1

ORPHA:397937Disease
Autosomal recessive

Polyglucosan body myopathy type 2

ORPHA:456369Disease
Autosomal recessive

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

ORPHA:500533Disease
Autosomal recessive

Polymalformative genetic syndrome with increased risk of developing cancer

ORPHA:183422Cat.
Autosomal dominant, Autosomal recessive

Polymerase proofreading-related polyposis

ORPHA:447877Disease
Autosomal dominant

Polymicrogyria

ORPHA:35981Clin. grp.
Autosomal dominant, Autosomal recessive, Not applicable, X-linked dominant

Polymicrogyria due to TUBB2B mutation

ORPHA:300573Malform.
Autosomal dominant

Polymicrogyria with optic nerve hypoplasia

ORPHA:250972Malform.
Autosomal recessive

Polymyositis

ORPHA:732Disease
Not applicable

Polyneuropathy associated with IgM monoclonal gammopathy

ORPHA:209004Disease
Not applicable

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

ORPHA:171848Disease
Autosomal recessive

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

ORPHA:2928Malform.

Polyostotic fibrous dysplasia

ORPHA:93276Clin. sub.
Unknown

Polyrrhinia

ORPHA:141091Malform.
Not applicable

Polysyndactyly

ORPHA:93338Morph.
Autosomal dominant

Polysyndactyly-cardiac malformation syndrome

ORPHA:2934Malform.
Autosomal recessive

Pontiac fever

ORPHA:99748Disease
Not applicable

Pontine autosomal dominant microangiopathy with leukoencephalopathy

ORPHA:477749Disease
Autosomal dominant

Pontine tegmental cap dysplasia

ORPHA:269229Morph.
Not applicable

Pontocerebellar hypoplasia type 1

ORPHA:2254Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 10

ORPHA:411493Malform.
Autosomal recessive