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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Unspecified mitochondrial disorder

ORPHA:254837Клин. гр.
Autosomal recessive, X-linked recessive

Unstable alpha globin chain variant disease

ORPHA:707789Заболевание
Autosomal dominant

Unstable beta globin chain variant disease

ORPHA:231226Заболевание
Autosomal dominant

Unstable gamma globin chain variant disease

ORPHA:707792Заболевание
Autosomal dominant

Upington disease

ORPHA:3408Порок
Autosomal dominant

Upper limb defect-eye and ear abnormalities syndrome

ORPHA:2489Порок

Upper limb mesomelic dysplasia, type Fryns

ORPHA:2497Порок

Upper tract urothelial carcinoma

ORPHA:598216Заболевание

Urachal carcinoma

ORPHA:695020Заболевание
Not applicable

Urachal cyst

ORPHA:488Морф.
Not applicable

Urachal diverticulum

ORPHA:431347Морф.
Not applicable

Urachal sinus

ORPHA:431344Морф.
Not applicable

Urban-Rogers-Meyer syndrome

ORPHA:3409Порок

Uremic pruritus

ORPHA:94059Ситуация
Not applicable

Urocanic aciduria

ORPHA:210128Заболевание
Autosomal recessive

Urofacial syndrome

ORPHA:2704Порок
Autosomal recessive

Usher syndrome

ORPHA:886Заболевание
Autosomal recessive

Usher syndrome type 1

ORPHA:231169Клин. подт.
Autosomal recessive

Usher syndrome type 2

ORPHA:231178Клин. подт.
Autosomal recessive

Usher syndrome type 3

ORPHA:231183Клин. подт.
Autosomal recessive

Uveal coloboma-cleft lip and palate-intellectual disability

ORPHA:1473Порок
Autosomal dominant

Uveal melanoma

ORPHA:39044Заболевание
Not applicable

Uveitis

ORPHA:98715Кат.

VACTERL with hydrocephalus

ORPHA:3412Порок
Autosomal recessive, X-linked recessive