MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Intermediate uveitis

ORPHA:279914Disease
Not applicable

Intermittent hydrarthrosis

ORPHA:329967Disease

Interstitial cystitis

ORPHA:37202Disease
Unknown

Interstitial granulomatous dermatitis with arthritis

ORPHA:79099Disease
Not applicable

Interstitial lung disease due to ABCA3 deficiency

ORPHA:440402Disease
Autosomal recessive

Interstitial lung disease due to SP-C deficiency

ORPHA:440392Disease
Autosomal dominant

Interstitial lung disease-brain calcification syndrome

ORPHA:178506Disease
Autosomal recessive

Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome

ORPHA:306504Disease
Autosomal recessive

Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

ORPHA:314376Disease
Autosomal recessive

Intraductal papillary mucinous carcinoma of pancreas

ORPHA:424058Disease
Not applicable

Intraductal tubulopapillary neoplasm of pancreas

ORPHA:580572Disease

Intrahepatic cholestasis of pregnancy

ORPHA:69665Disease
Multigenic/multifactorial, Not applicable

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

Intravascular large B-cell lymphoma

ORPHA:98839Disease
Not applicable

Invasive candidiasis

ORPHA:636945Disease

Invasive mole

ORPHA:99925Disease
Not applicable

Invasive non-typhoidal salmonellosis

ORPHA:324648Disease

Invasive scopulariopsis infection

ORPHA:633124Disease

Iridocorneal endothelial syndrome

ORPHA:64734Disease
Not applicable

Isaacs syndrome

ORPHA:84142Disease
Not applicable