MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Peeling skin syndrome type A

ORPHA:263548Клин. подтип
Autosomal recessive

Peeling skin syndrome type B

ORPHA:263553Клин. подтип
Autosomal recessive

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

ORPHA:444138Заболевание
Autosomal recessive

Pelizaeus-Merzbacher disease

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

Pelizaeus-Merzbacher disease in female carriers

ORPHA:280229Клин. подтип
X-linked recessive

Pelizaeus-Merzbacher disease, classic form

ORPHA:280219Клин. подтип
X-linked recessive

Pelizaeus-Merzbacher disease, connatal form

ORPHA:280210Клин. подтип
X-linked recessive

Pelizaeus-Merzbacher disease, transitional form

ORPHA:280224Клин. подтип
X-linked recessive

Pelizaeus-Merzbacher-like disease

ORPHA:280270Заболевание
Autosomal recessive

Pelizaeus-Merzbacher-like disease due to AIMP1 mutation

ORPHA:280293Клин. подтип
Autosomal recessive

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

ORPHA:280282Клин. подтип
Autosomal recessive

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

ORPHA:280288Клин. подтип
Autosomal recessive

Pelvic arteriovenous malformation

ORPHA:714715Морф. аномалия
Not applicable

Pelvic dysplasia-arthrogryposis of lower limbs syndrome

ORPHA:2840Мальформация

Pelvis-shoulder dysplasia

ORPHA:2839Мальформация
Autosomal dominant

Pelviscapular dysplasia

ORPHA:93333Мальформация
Autosomal recessive

Pemphigoid gestationis

ORPHA:63275Заболевание

Pemphigus erythematosus

ORPHA:79480Заболевание

Pemphigus foliaceus

ORPHA:79481Заболевание

Pemphigus vegetans

ORPHA:79479Заболевание

Pemphigus vulgaris

ORPHA:704Заболевание
Not applicable

Pendred syndrome

ORPHA:705Мальформация
Autosomal recessive

Penile agenesis

ORPHA:49Морф. аномалия

Penoscrotal transposition

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