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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Intermediate generalized junctional epidermolysis bullosa

ORPHA:79402Заболевание
Autosomal recessive

Intermediate maple syrup urine disease

ORPHA:268162Клин. подт.
Autosomal recessive

Intermediate nemaline myopathy

ORPHA:171433Заболевание
Autosomal dominant, Autosomal recessive

Intermediate osteopetrosis

ORPHA:210110Порок
Autosomal recessive

Intermediate severe Salla disease

ORPHA:309331Клин. подт.
Autosomal recessive

Intermediate uveitis

ORPHA:279914Заболевание
Not applicable

Intermittent hydrarthrosis

ORPHA:329967Заболевание

Intermittent maple syrup urine disease

ORPHA:268173Клин. подт.
Autosomal recessive

Internal carotid absence

ORPHA:981Морф.
Not applicable

Interstitial cystitis

ORPHA:37202Заболевание
Unknown

Interstitial granulomatous dermatitis with arthritis

ORPHA:79099Заболевание
Not applicable

Interstitial lung disease

ORPHA:182095Кат.

Interstitial lung disease due to ABCA3 deficiency

ORPHA:440402Заболевание
Autosomal recessive

Interstitial lung disease due to SP-C deficiency

ORPHA:440392Заболевание
Autosomal dominant

Interstitial lung disease-brain calcification syndrome

ORPHA:178506Заболевание
Autosomal recessive

Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome

ORPHA:306504Заболевание
Autosomal recessive

Intestinal botulism

ORPHA:178481Клин. подт.

Intestinal lymphangiectasia

ORPHA:36204Клин. гр.
Not applicable

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

ORPHA:314376Заболевание
Autosomal recessive

Intractable diarrhea of infancy

ORPHA:73014Кат.

Intractable diarrhea-choanal atresia-eye anomalies syndrome

ORPHA:137622Порок

Intraductal papillary mucinous carcinoma of pancreas

ORPHA:424058Заболевание
Not applicable

Intraductal tubulopapillary neoplasm of pancreas

ORPHA:580572Заболевание

Intrahepatic cholestasis of pregnancy

ORPHA:69665Заболевание
Multigenic/multifactorial, Not applicable