MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Intermediate generalized junctional epidermolysis bullosa

ORPHA:79402Disease
Autosomal recessive

Intermediate maple syrup urine disease

ORPHA:268162Clin. sub.
Autosomal recessive

Intermediate nemaline myopathy

ORPHA:171433Disease
Autosomal dominant, Autosomal recessive

Intermediate osteopetrosis

ORPHA:210110Malform.
Autosomal recessive

Intermediate severe Salla disease

ORPHA:309331Clin. sub.
Autosomal recessive

Intermediate uveitis

ORPHA:279914Disease
Not applicable

Intermittent hydrarthrosis

ORPHA:329967Disease

Intermittent maple syrup urine disease

ORPHA:268173Clin. sub.
Autosomal recessive

Internal carotid absence

ORPHA:981Morph.
Not applicable

Interstitial cystitis

ORPHA:37202Disease
Unknown

Interstitial granulomatous dermatitis with arthritis

ORPHA:79099Disease
Not applicable

Interstitial lung disease

ORPHA:182095Cat.

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 botulism

ORPHA:178481Clin. sub.

Intestinal lymphangiectasia

ORPHA:36204Clin. grp.
Not applicable

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

ORPHA:314376Disease
Autosomal recessive

Intractable diarrhea of infancy

ORPHA:73014Cat.

Intractable diarrhea-choanal atresia-eye anomalies syndrome

ORPHA:137622Malform.

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