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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Johanson-Blizzard syndrome

ORPHA:2315Malform.
Autosomal recessive

Johnson neuroectodermal syndrome

ORPHA:2316Malform.
Autosomal dominant

Joubert syndrome and related disorders

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

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

ORPHA:397715Malform.
Autosomal recessive

Joubert syndrome with hepatic defect

ORPHA:1454Disease
Autosomal recessive

Joubert syndrome with ocular defect

ORPHA:220493Malform.
Autosomal recessive

Joubert syndrome with oculorenal defect

ORPHA:2318Malform.
Autosomal recessive

Joubert syndrome with renal defect

ORPHA:220497Malform.
Autosomal recessive

Juberg-Hayward syndrome

ORPHA:2319Malform.
Autosomal dominant, Autosomal recessive

Junctional epidermolysis bullosa

ORPHA:305Clin. grp.
Autosomal recessive

Junctional epidermolysis bullosa inversa

ORPHA:79405Disease
Autosomal recessive

Junctional epidermolysis bullosa with pyloric atresia

ORPHA:79403Disease
Autosomal recessive

Jung syndrome

ORPHA:2321Malform.

Juvenile CLN1 disease

ORPHA:699739Clin. sub.
Autosomal recessive

Juvenile CLN10 disease

ORPHA:700497Clin. sub.
Autosomal recessive

Juvenile CLN2 disease

ORPHA:699769Clin. sub.
Autosomal recessive

Juvenile CLN3 disease

ORPHA:699780Clin. sub.
Autosomal recessive

Juvenile CLN5 disease

ORPHA:699807Clin. sub.
Autosomal recessive

Juvenile CLN6 disease

ORPHA:700472Clin. sub.
Autosomal recessive

Juvenile Huntington disease

ORPHA:248111Disease
Autosomal dominant

Juvenile Paget disease

ORPHA:2801Malform.
Autosomal recessive

Juvenile absence epilepsy

ORPHA:1941Disease
Multigenic/multifactorial, Unknown

Juvenile amyotrophic lateral sclerosis

ORPHA:300605Disease
Autosomal recessive

Juvenile cataract-microcornea-renal glucosuria syndrome

ORPHA:247794Disease
Autosomal dominant