MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Johanson-Blizzard syndrome

ORPHA:2315Мальформация
Autosomal recessive

Johnson neuroectodermal syndrome

ORPHA:2316Мальформация
Autosomal dominant

Joubert syndrome and related disorders

ORPHA:140874Категория
Autosomal recessive, X-linked recessive

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

ORPHA:397715Мальформация
Autosomal recessive

Joubert syndrome with hepatic defect

ORPHA:1454Заболевание
Autosomal recessive

Joubert syndrome with ocular defect

ORPHA:220493Мальформация
Autosomal recessive

Joubert syndrome with oculorenal defect

ORPHA:2318Мальформация
Autosomal recessive

Joubert syndrome with renal defect

ORPHA:220497Мальформация
Autosomal recessive

Juberg-Hayward syndrome

ORPHA:2319Мальформация
Autosomal dominant, Autosomal recessive

Junctional epidermolysis bullosa

ORPHA:305Клин. группа
Autosomal recessive

Junctional epidermolysis bullosa inversa

ORPHA:79405Заболевание
Autosomal recessive

Junctional epidermolysis bullosa with pyloric atresia

ORPHA:79403Заболевание
Autosomal recessive

Jung syndrome

ORPHA:2321Мальформация

Juvenile CLN1 disease

ORPHA:699739Клин. подтип
Autosomal recessive

Juvenile CLN10 disease

ORPHA:700497Клин. подтип
Autosomal recessive

Juvenile CLN2 disease

ORPHA:699769Клин. подтип
Autosomal recessive

Juvenile CLN3 disease

ORPHA:699780Клин. подтип
Autosomal recessive

Juvenile CLN5 disease

ORPHA:699807Клин. подтип
Autosomal recessive

Juvenile CLN6 disease

ORPHA:700472Клин. подтип
Autosomal recessive

Juvenile Huntington disease

ORPHA:248111Заболевание
Autosomal dominant

Juvenile Paget disease

ORPHA:2801Мальформация
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