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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Johanson-Blizzard syndrome

ORPHA:2315Порок
Autosomal recessive

Johnson neuroectodermal syndrome

ORPHA:2316Порок
Autosomal dominant

Joubert syndrome and related disorders

ORPHA:140874Кат.
Autosomal recessive, X-linked recessive

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

ORPHA:397715Порок
Autosomal recessive

Joubert syndrome with hepatic defect

ORPHA:1454Заболевание
Autosomal recessive

Joubert syndrome with ocular defect

ORPHA:220493Порок
Autosomal recessive

Joubert syndrome with oculorenal defect

ORPHA:2318Порок
Autosomal recessive

Joubert syndrome with renal defect

ORPHA:220497Порок
Autosomal recessive

Juberg-Hayward syndrome

ORPHA:2319Порок
Autosomal dominant, Autosomal recessive

Junctional epidermolysis bullosa

ORPHA:305Клин. гр.
Autosomal recessive

Junctional epidermolysis bullosa inversa

ORPHA:79405Заболевание
Autosomal recessive

Junctional epidermolysis bullosa with pyloric atresia

ORPHA:79403Заболевание
Autosomal recessive

Jung syndrome

ORPHA:2321Порок

Juvenile CLN1 disease

ORPHA:699739Клин. подт.
Autosomal recessive

Juvenile CLN10 disease

ORPHA:700497Клин. подт.
Autosomal recessive

Juvenile CLN2 disease

ORPHA:699769Клин. подт.
Autosomal recessive

Juvenile CLN3 disease

ORPHA:699780Клин. подт.
Autosomal recessive

Juvenile CLN5 disease

ORPHA:699807Клин. подт.
Autosomal recessive

Juvenile CLN6 disease

ORPHA:700472Клин. подт.
Autosomal recessive

Juvenile Huntington disease

ORPHA:248111Заболевание
Autosomal dominant

Juvenile Paget disease

ORPHA:2801Порок
Autosomal recessive

Juvenile absence epilepsy

ORPHA:1941Заболевание
Multigenic/multifactorial, Unknown

Juvenile amyotrophic lateral sclerosis

ORPHA:300605Заболевание
Autosomal recessive

Juvenile cataract-microcornea-renal glucosuria syndrome

ORPHA:247794Заболевание
Autosomal dominant