MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
727 Erkrankungen gefunden (Kl. subt.) Zurücksetzen

Infantile Krabbe disease

ORPHA:206436Kl. subt.
Autosomal recessive

Infantile glycine encephalopathy

ORPHA:289860Kl. subt.
Autosomal recessive

Infantile hypophosphatasia

ORPHA:247651Kl. subt.
Autosomal recessive

Infantile nephronophthisis

ORPHA:93591Kl. subt.
Autosomal recessive

Infantile nephropathic cystinosis

ORPHA:411629Kl. subt.
Autosomal recessive

Infantile systemic hyalinosis

ORPHA:2176Kl. subt.
Autosomal recessive

Inhalational botulism

ORPHA:254504Kl. subt.

Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant

ORPHA:293888Kl. subt.
Autosomal dominant

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

ORPHA:293910Kl. subt.
Autosomal dominant

Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant

ORPHA:293899Kl. subt.
Autosomal dominant

Intermediate maple syrup urine disease

ORPHA:268162Kl. subt.
Autosomal recessive

Intermediate severe Salla disease

ORPHA:309331Kl. subt.
Autosomal recessive

Intermittent maple syrup urine disease

ORPHA:268173Kl. subt.
Autosomal recessive

Intestinal botulism

ORPHA:178481Kl. subt.

Isolated Dandy-Walker malformation with hydrocephalus

ORPHA:269212Kl. subt.

Isolated Dandy-Walker malformation without hydrocephalus

ORPHA:269215Kl. subt.
Multigenic/multifactorial

Isolated anencephaly

ORPHA:563609Kl. subt.
Multigenic/multifactorial

Isolated congenitally uncorrected transposition of the great arteries

ORPHA:216718Kl. subt.
Multigenic/multifactorial, Not applicable

Isolated duodenal duplication

ORPHA:662473Kl. subt.
Not applicable

Isolated epispadias

ORPHA:93928Kl. subt.
Multigenic/multifactorial

Isolated exencephaly

ORPHA:563612Kl. subt.

Isolated focal cortical dysplasia type I

ORPHA:268961Kl. subt.

Isolated focal cortical dysplasia type II

ORPHA:268994Kl. subt.

Isolated growth hormone deficiency type IA

ORPHA:231662Kl. subt.
Autosomal recessive