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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Peeling skin syndrome type A

ORPHA:263548Clin. sub.
Autosomal recessive

Peeling skin syndrome type B

ORPHA:263553Clin. sub.
Autosomal recessive

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

ORPHA:444138Disease
Autosomal recessive

Pelizaeus-Merzbacher disease

ORPHA:702Disease
X-linked dominant, X-linked recessive

Pelizaeus-Merzbacher disease in female carriers

ORPHA:280229Clin. sub.
X-linked recessive

Pelizaeus-Merzbacher disease, classic form

ORPHA:280219Clin. sub.
X-linked recessive

Pelizaeus-Merzbacher disease, connatal form

ORPHA:280210Clin. sub.
X-linked recessive

Pelizaeus-Merzbacher disease, transitional form

ORPHA:280224Clin. sub.
X-linked recessive

Pelizaeus-Merzbacher-like disease

ORPHA:280270Disease
Autosomal recessive

Pelizaeus-Merzbacher-like disease due to AIMP1 mutation

ORPHA:280293Clin. sub.
Autosomal recessive

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

ORPHA:280282Clin. sub.
Autosomal recessive

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

ORPHA:280288Clin. sub.
Autosomal recessive

Pelvic arteriovenous malformation

ORPHA:714715Morph.
Not applicable

Pelvic dysplasia-arthrogryposis of lower limbs syndrome

ORPHA:2840Malform.

Pelvis-shoulder dysplasia

ORPHA:2839Malform.
Autosomal dominant

Pelviscapular dysplasia

ORPHA:93333Malform.
Autosomal recessive

Pemphigoid gestationis

ORPHA:63275Disease

Pemphigus erythematosus

ORPHA:79480Disease

Pemphigus foliaceus

ORPHA:79481Disease

Pemphigus vegetans

ORPHA:79479Disease

Pemphigus vulgaris

ORPHA:704Disease
Not applicable

Pendred syndrome

ORPHA:705Malform.
Autosomal recessive

Penile agenesis

ORPHA:49Morph.

Penoscrotal transposition

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