MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Pontocerebellar hypoplasia type 11

ORPHA:611247Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 12

ORPHA:611256Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 13

ORPHA:613267Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 14

ORPHA:613274Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 2

ORPHA:2524Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 3

ORPHA:97249Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 4

ORPHA:166063Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 6

ORPHA:166073Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 7

ORPHA:284339Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 8

ORPHA:324569Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 9

ORPHA:369920Malf.
Autosomal recessive

Poorly differentiated thymic neuroendocrine carcinoma

ORPHA:263339His. subt.
Not applicable

Popliteal pterygium syndrome

ORPHA:294963Kl. gruppe
Autosomal dominant

Porencephaly

ORPHA:2940Kr.
Multigenic/multifactorial, Not applicable

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

ORPHA:2941Malf.

Porencephaly-microcephaly-bilateral congenital cataract syndrome

ORPHA:306547Malf.
Autosomal recessive

Porokeratosis of Mibelli

ORPHA:735Kr.
Autosomal dominant, Not applicable

Porokeratosis plantaris palmaris et disseminata

ORPHA:737Kr.
Autosomal dominant, X-linked dominant

Porokeratotic eccrine ostial and dermal duct nevus

ORPHA:166286Kr.
Not applicable

Porphyria

ORPHA:738Kl. gruppe
Autosomal dominant, Autosomal recessive

Porphyria cutanea tarda

ORPHA:101330Kr.
Autosomal dominant, Multigenic/multifactorial

Porphyria due to ALA dehydratase deficiency

ORPHA:100924Kr.
Autosomal recessive

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

ORPHA:2703Malf.

Portosinusoidal vascular disease

ORPHA:596937Kr.