MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 727 заболеваний (Клин. подт.) Сброс

Infantile Krabbe disease

ORPHA:206436Клин. подт.
Autosomal recessive

Infantile glycine encephalopathy

ORPHA:289860Клин. подт.
Autosomal recessive

Infantile hypophosphatasia

ORPHA:247651Клин. подт.
Autosomal recessive

Infantile nephronophthisis

ORPHA:93591Клин. подт.
Autosomal recessive

Infantile nephropathic cystinosis

ORPHA:411629Клин. подт.
Autosomal recessive

Infantile systemic hyalinosis

ORPHA:2176Клин. подт.
Autosomal recessive

Inhalational botulism

ORPHA:254504Клин. подт.

Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant

ORPHA:293888Клин. подт.
Autosomal dominant

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

ORPHA:293910Клин. подт.
Autosomal dominant

Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant

ORPHA:293899Клин. подт.
Autosomal dominant

Intermediate maple syrup urine disease

ORPHA:268162Клин. подт.
Autosomal recessive

Intermediate severe Salla disease

ORPHA:309331Клин. подт.
Autosomal recessive

Intermittent maple syrup urine disease

ORPHA:268173Клин. подт.
Autosomal recessive

Intestinal botulism

ORPHA:178481Клин. подт.

Isolated Dandy-Walker malformation with hydrocephalus

ORPHA:269212Клин. подт.

Isolated Dandy-Walker malformation without hydrocephalus

ORPHA:269215Клин. подт.
Multigenic/multifactorial

Isolated anencephaly

ORPHA:563609Клин. подт.
Multigenic/multifactorial

Isolated congenitally uncorrected transposition of the great arteries

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

Isolated duodenal duplication

ORPHA:662473Клин. подт.
Not applicable

Isolated epispadias

ORPHA:93928Клин. подт.
Multigenic/multifactorial

Isolated exencephaly

ORPHA:563612Клин. подт.

Isolated focal cortical dysplasia type I

ORPHA:268961Клин. подт.

Isolated focal cortical dysplasia type II

ORPHA:268994Клин. подт.

Isolated growth hormone deficiency type IA

ORPHA:231662Клин. подт.
Autosomal recessive