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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Polydactyly-myopia syndrome

ORPHA:2917Мальф.
Autosomal dominant

Polyembryoma

ORPHA:180229Ауру
Not applicable

Polyendocrine-polyneuropathy syndrome

ORPHA:453533Ауру
Autosomal recessive

Polyglucosan body myopathy type 1

ORPHA:397937Ауру
Autosomal recessive

Polyglucosan body myopathy type 2

ORPHA:456369Ауру
Autosomal recessive

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

ORPHA:500533Ауру
Autosomal recessive

Polymalformative genetic syndrome with increased risk of developing cancer

ORPHA:183422Сан.
Autosomal dominant, Autosomal recessive

Polymerase proofreading-related polyposis

ORPHA:447877Ауру
Autosomal dominant

Polymicrogyria

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

Polymicrogyria due to TUBB2B mutation

ORPHA:300573Мальф.
Autosomal dominant

Polymicrogyria with optic nerve hypoplasia

ORPHA:250972Мальф.
Autosomal recessive

Polymyositis

ORPHA:732Ауру
Not applicable

Polyneuropathy associated with IgM monoclonal gammopathy

ORPHA:209004Ауру
Not applicable

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

ORPHA:171848Ауру
Autosomal recessive

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

ORPHA:2928Мальф.

Polyostotic fibrous dysplasia

ORPHA:93276Клин. под.
Unknown

Polyrrhinia

ORPHA:141091Мальф.
Not applicable

Polysyndactyly

ORPHA:93338Морф.
Autosomal dominant

Polysyndactyly-cardiac malformation syndrome

ORPHA:2934Мальф.
Autosomal recessive

Pontiac fever

ORPHA:99748Ауру
Not applicable

Pontine autosomal dominant microangiopathy with leukoencephalopathy

ORPHA:477749Ауру
Autosomal dominant

Pontine tegmental cap dysplasia

ORPHA:269229Морф.
Not applicable

Pontocerebellar hypoplasia type 1

ORPHA:2254Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 10

ORPHA:411493Мальф.
Autosomal recessive