MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 727 заболеваний (Клин. подтип)Сбросить

Infantile Krabbe disease

ORPHA:206436Клин. подтип
Autosomal recessive

Infantile glycine encephalopathy

ORPHA:289860Клин. подтип
Autosomal recessive

Infantile hypophosphatasia

ORPHA:247651Клин. подтип
Autosomal recessive

Infantile nephronophthisis

ORPHA:93591Клин. подтип
Autosomal recessive

Infantile nephropathic cystinosis

ORPHA:411629Клин. подтип
Autosomal recessive

Infantile systemic hyalinosis

ORPHA:2176Клин. подтип
Autosomal recessive

Inhalational botulism

ORPHA:254504Клин. подтип

Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant

ORPHA:293888Клин. подтип
Autosomal dominant

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

ORPHA:293910Клин. подтип
Autosomal dominant

Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant

ORPHA:293899Клин. подтип
Autosomal dominant

Intermediate maple syrup urine disease

ORPHA:268162Клин. подтип
Autosomal recessive

Intermediate severe Salla disease

ORPHA:309331Клин. подтип
Autosomal recessive

Intermittent maple syrup urine disease

ORPHA:268173Клин. подтип
Autosomal recessive

Intestinal botulism

ORPHA:178481Клин. подтип

Isolated Dandy-Walker malformation with hydrocephalus

ORPHA:269212Клин. подтип

Isolated Dandy-Walker malformation without hydrocephalus

ORPHA:269215Клин. подтип
Multigenic/multifactorial

Isolated anencephaly

ORPHA:563609Клин. подтип
Multigenic/multifactorial

Isolated congenitally uncorrected transposition of the great arteries

ORPHA:216718Клин. подтип
Multigenic/multifactorial, Not applicable

Isolated duodenal duplication

ORPHA:662473Клин. подтип
Not applicable

Isolated epispadias

ORPHA:93928Клин. подтип
Multigenic/multifactorial

Isolated exencephaly

ORPHA:563612Клин. подтип

Isolated focal cortical dysplasia type I

ORPHA:268961Клин. подтип

Isolated focal cortical dysplasia type II

ORPHA:268994Клин. подтип

Isolated growth hormone deficiency type IA

ORPHA:231662Клин. подтип
Autosomal recessive