MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Polydactyly-myopia syndrome

ORPHA:2917Malf.
Autosomal dominant

Polyembryoma

ORPHA:180229Kr.
Not applicable

Polyendocrine-polyneuropathy syndrome

ORPHA:453533Kr.
Autosomal recessive

Polyglucosan body myopathy type 1

ORPHA:397937Kr.
Autosomal recessive

Polyglucosan body myopathy type 2

ORPHA:456369Kr.
Autosomal recessive

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

ORPHA:500533Kr.
Autosomal recessive

Polymalformative genetic syndrome with increased risk of developing cancer

ORPHA:183422Kat.
Autosomal dominant, Autosomal recessive

Polymerase proofreading-related polyposis

ORPHA:447877Kr.
Autosomal dominant

Polymicrogyria

ORPHA:35981Kl. gruppe
Autosomal dominant, Autosomal recessive, Not applicable, X-linked dominant

Polymicrogyria due to TUBB2B mutation

ORPHA:300573Malf.
Autosomal dominant

Polymicrogyria with optic nerve hypoplasia

ORPHA:250972Malf.
Autosomal recessive

Polymyositis

ORPHA:732Kr.
Not applicable

Polyneuropathy associated with IgM monoclonal gammopathy

ORPHA:209004Kr.
Not applicable

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

ORPHA:171848Kr.
Autosomal recessive

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

ORPHA:2928Malf.

Polyostotic fibrous dysplasia

ORPHA:93276Kl. subt.
Unknown

Polyrrhinia

ORPHA:141091Malf.
Not applicable

Polysyndactyly

ORPHA:93338Morph.
Autosomal dominant

Polysyndactyly-cardiac malformation syndrome

ORPHA:2934Malf.
Autosomal recessive

Pontiac fever

ORPHA:99748Kr.
Not applicable

Pontine autosomal dominant microangiopathy with leukoencephalopathy

ORPHA:477749Kr.
Autosomal dominant

Pontine tegmental cap dysplasia

ORPHA:269229Morph.
Not applicable

Pontocerebellar hypoplasia type 1

ORPHA:2254Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 10

ORPHA:411493Malf.
Autosomal recessive