MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Intermediate generalized junctional epidermolysis bullosa

ORPHA:79402Kr.
Autosomal recessive

Intermediate maple syrup urine disease

ORPHA:268162Kl. subt.
Autosomal recessive

Intermediate nemaline myopathy

ORPHA:171433Kr.
Autosomal dominant, Autosomal recessive

Intermediate osteopetrosis

ORPHA:210110Malf.
Autosomal recessive

Intermediate severe Salla disease

ORPHA:309331Kl. subt.
Autosomal recessive

Intermediate uveitis

ORPHA:279914Kr.
Not applicable

Intermittent hydrarthrosis

ORPHA:329967Kr.

Intermittent maple syrup urine disease

ORPHA:268173Kl. subt.
Autosomal recessive

Internal carotid absence

ORPHA:981Morph.
Not applicable

Interstitial cystitis

ORPHA:37202Kr.
Unknown

Interstitial granulomatous dermatitis with arthritis

ORPHA:79099Kr.
Not applicable

Interstitial lung disease

ORPHA:182095Kat.

Interstitial lung disease due to ABCA3 deficiency

ORPHA:440402Kr.
Autosomal recessive

Interstitial lung disease due to SP-C deficiency

ORPHA:440392Kr.
Autosomal dominant

Interstitial lung disease-brain calcification syndrome

ORPHA:178506Kr.
Autosomal recessive

Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome

ORPHA:306504Kr.
Autosomal recessive

Intestinal botulism

ORPHA:178481Kl. subt.

Intestinal lymphangiectasia

ORPHA:36204Kl. gruppe
Not applicable

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

ORPHA:314376Kr.
Autosomal recessive

Intractable diarrhea of infancy

ORPHA:73014Kat.

Intractable diarrhea-choanal atresia-eye anomalies syndrome

ORPHA:137622Malf.

Intraductal papillary mucinous carcinoma of pancreas

ORPHA:424058Kr.
Not applicable

Intraductal tubulopapillary neoplasm of pancreas

ORPHA:580572Kr.

Intrahepatic cholestasis of pregnancy

ORPHA:69665Kr.
Multigenic/multifactorial, Not applicable