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Табылды 727 заболеваний (Клин. под.) Қалпына келтіру

Infantile Krabbe disease

ORPHA:206436Клин. под.
Autosomal recessive

Infantile glycine encephalopathy

ORPHA:289860Клин. под.
Autosomal recessive

Infantile hypophosphatasia

ORPHA:247651Клин. под.
Autosomal recessive

Infantile nephronophthisis

ORPHA:93591Клин. под.
Autosomal recessive

Infantile nephropathic cystinosis

ORPHA:411629Клин. под.
Autosomal recessive

Infantile systemic hyalinosis

ORPHA:2176Клин. под.
Autosomal recessive

Inhalational botulism

ORPHA:254504Клин. под.

Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant

ORPHA:293888Клин. под.
Autosomal dominant

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

ORPHA:293910Клин. под.
Autosomal dominant

Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant

ORPHA:293899Клин. под.
Autosomal dominant

Intermediate maple syrup urine disease

ORPHA:268162Клин. под.
Autosomal recessive

Intermediate severe Salla disease

ORPHA:309331Клин. под.
Autosomal recessive

Intermittent maple syrup urine disease

ORPHA:268173Клин. под.
Autosomal recessive

Intestinal botulism

ORPHA:178481Клин. под.

Isolated Dandy-Walker malformation with hydrocephalus

ORPHA:269212Клин. под.

Isolated Dandy-Walker malformation without hydrocephalus

ORPHA:269215Клин. под.
Multigenic/multifactorial

Isolated anencephaly

ORPHA:563609Клин. под.
Multigenic/multifactorial

Isolated congenitally uncorrected transposition of the great arteries

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

Isolated duodenal duplication

ORPHA:662473Клин. под.
Not applicable

Isolated epispadias

ORPHA:93928Клин. под.
Multigenic/multifactorial

Isolated exencephaly

ORPHA:563612Клин. под.

Isolated focal cortical dysplasia type I

ORPHA:268961Клин. под.

Isolated focal cortical dysplasia type II

ORPHA:268994Клин. под.

Isolated growth hormone deficiency type IA

ORPHA:231662Клин. под.
Autosomal recessive