MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
727 diseases matched (Clin. sub.) Reset

Infantile Krabbe disease

ORPHA:206436Clin. sub.
Autosomal recessive

Infantile glycine encephalopathy

ORPHA:289860Clin. sub.
Autosomal recessive

Infantile hypophosphatasia

ORPHA:247651Clin. sub.
Autosomal recessive

Infantile nephronophthisis

ORPHA:93591Clin. sub.
Autosomal recessive

Infantile nephropathic cystinosis

ORPHA:411629Clin. sub.
Autosomal recessive

Infantile systemic hyalinosis

ORPHA:2176Clin. sub.
Autosomal recessive

Inhalational botulism

ORPHA:254504Clin. sub.

Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant

ORPHA:293888Clin. sub.
Autosomal dominant

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

ORPHA:293910Clin. sub.
Autosomal dominant

Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant

ORPHA:293899Clin. sub.
Autosomal dominant

Intermediate maple syrup urine disease

ORPHA:268162Clin. sub.
Autosomal recessive

Intermediate severe Salla disease

ORPHA:309331Clin. sub.
Autosomal recessive

Intermittent maple syrup urine disease

ORPHA:268173Clin. sub.
Autosomal recessive

Intestinal botulism

ORPHA:178481Clin. sub.

Isolated Dandy-Walker malformation with hydrocephalus

ORPHA:269212Clin. sub.

Isolated Dandy-Walker malformation without hydrocephalus

ORPHA:269215Clin. sub.
Multigenic/multifactorial

Isolated anencephaly

ORPHA:563609Clin. sub.
Multigenic/multifactorial

Isolated congenitally uncorrected transposition of the great arteries

ORPHA:216718Clin. sub.
Multigenic/multifactorial, Not applicable

Isolated duodenal duplication

ORPHA:662473Clin. sub.
Not applicable

Isolated epispadias

ORPHA:93928Clin. sub.
Multigenic/multifactorial

Isolated exencephaly

ORPHA:563612Clin. sub.

Isolated focal cortical dysplasia type I

ORPHA:268961Clin. sub.

Isolated focal cortical dysplasia type II

ORPHA:268994Clin. sub.

Isolated growth hormone deficiency type IA

ORPHA:231662Clin. sub.
Autosomal recessive