MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

ORPHA:444138Kr.
Autosomal recessive

Pelizaeus-Merzbacher disease

ORPHA:702Kr.
X-linked dominant, X-linked recessive

Pelizaeus-Merzbacher-like disease

ORPHA:280270Kr.
Autosomal recessive

Pemphigoid gestationis

ORPHA:63275Kr.

Pemphigus erythematosus

ORPHA:79480Kr.

Pemphigus foliaceus

ORPHA:79481Kr.

Pemphigus vegetans

ORPHA:79479Kr.

Pemphigus vulgaris

ORPHA:704Kr.
Not applicable

Pentosuria

ORPHA:2843Kr.
Autosomal recessive

Perifoveal exudative vascular anomalous complex

ORPHA:674930Kr.
Unknown

Perihilar cholangiocarcinoma

ORPHA:99978Kr.
Not applicable

Periodic fever-immunodeficiency-thrombocytopenia syndrome

ORPHA:652522Kr.
Autosomal recessive

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

ORPHA:436166Kr.
Autosomal dominant

Periodic paralysis with later-onset distal motor neuropathy

ORPHA:397750Kr.
Mitochondrial inheritance

Periodic paralysis with transient compartment-like syndrome

ORPHA:397755Kr.
Autosomal dominant

Periodontal Ehlers-Danlos syndrome

ORPHA:75392Kr.
Autosomal dominant

Perioral myoclonia with absences

ORPHA:139426Kr.

Peripartum cardiomyopathy

ORPHA:563Kr.
Unknown

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

ORPHA:163746Kr.
Autosomal dominant

Peripheral motor neuropathy-dysautonomia syndrome

ORPHA:2400Kr.
Unknown

Peripheral primitive neuroectodermal tumor

ORPHA:370348Kr.
Not applicable

Peritoneal inclusion cyst

ORPHA:168816Kr.
Unknown

Perivascular epithelioid cell neoplasm

ORPHA:595133Kr.

Peroxisomal acyl-CoA oxidase deficiency

ORPHA:2971Kr.
Autosomal recessive