MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Intraneural perineurioma

ORPHA:100003Disease

Intraocular medulloepithelioma

ORPHA:268139Disease
Not applicable

Intraoral basal cell carcinoma

ORPHA:667678Disease
Not yet documented

Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

ORPHA:508512Disease
Autosomal recessive

Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome

ORPHA:436144Disease
Autosomal dominant

Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

ORPHA:659702Malform.

Intravascular large B-cell lymphoma

ORPHA:98839Disease
Not applicable

Invasive candidiasis

ORPHA:636945Disease

Invasive infections due to vancomycin-resistant enterococci

ORPHA:90078Situation

Invasive mole

ORPHA:99925Disease
Not applicable

Invasive non-typhoidal salmonellosis

ORPHA:324648Disease

Invasive scopulariopsis infection

ORPHA:633124Disease

Inverted duplicated chromosome 15 syndrome

ORPHA:3306Malform.
Not applicable, Unknown

Iridocorneal endothelial syndrome

ORPHA:64734Disease
Not applicable

Isaacs syndrome

ORPHA:84142Disease
Not applicable

Isobutyryl-CoA dehydrogenase deficiency

ORPHA:79159Disease
Autosomal recessive

Isochromosomy Yp syndrome

ORPHA:98797Malform.

Isochromosomy Yq syndrome

ORPHA:98798Malform.

Isolated ATP synthase deficiency

ORPHA:254913Disease
Autosomal recessive

Isolated Dandy-Walker malformation

ORPHA:217Morph.
Multigenic/multifactorial

Isolated Dandy-Walker malformation with hydrocephalus

ORPHA:269212Clin. sub.

Isolated Dandy-Walker malformation without hydrocephalus

ORPHA:269215Clin. sub.
Multigenic/multifactorial

Isolated Joubert syndrome

ORPHA:475Malform.
Autosomal recessive

Isolated Klippel-Feil syndrome

ORPHA:2345Malform.
Autosomal dominant, Autosomal recessive, Not applicable