MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Peeling skin syndrome type A

ORPHA:263548Kl. subt.
Autosomal recessive

Peeling skin syndrome type B

ORPHA:263553Kl. subt.
Autosomal recessive

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 disease in female carriers

ORPHA:280229Kl. subt.
X-linked recessive

Pelizaeus-Merzbacher disease, classic form

ORPHA:280219Kl. subt.
X-linked recessive

Pelizaeus-Merzbacher disease, connatal form

ORPHA:280210Kl. subt.
X-linked recessive

Pelizaeus-Merzbacher disease, transitional form

ORPHA:280224Kl. subt.
X-linked recessive

Pelizaeus-Merzbacher-like disease

ORPHA:280270Kr.
Autosomal recessive

Pelizaeus-Merzbacher-like disease due to AIMP1 mutation

ORPHA:280293Kl. subt.
Autosomal recessive

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

ORPHA:280282Kl. subt.
Autosomal recessive

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

ORPHA:280288Kl. subt.
Autosomal recessive

Pelvic arteriovenous malformation

ORPHA:714715Morph.
Not applicable

Pelvic dysplasia-arthrogryposis of lower limbs syndrome

ORPHA:2840Malf.

Pelvis-shoulder dysplasia

ORPHA:2839Malf.
Autosomal dominant

Pelviscapular dysplasia

ORPHA:93333Malf.
Autosomal recessive

Pemphigoid gestationis

ORPHA:63275Kr.

Pemphigus erythematosus

ORPHA:79480Kr.

Pemphigus foliaceus

ORPHA:79481Kr.

Pemphigus vegetans

ORPHA:79479Kr.

Pemphigus vulgaris

ORPHA:704Kr.
Not applicable

Pendred syndrome

ORPHA:705Malf.
Autosomal recessive

Penile agenesis

ORPHA:49Morph.

Penoscrotal transposition

ORPHA:2842Morph.
Autosomal recessive, Not applicable, X-linked recessive