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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Johanson-Blizzard syndrome

ORPHA:2315Мальф.
Autosomal recessive

Johnson neuroectodermal syndrome

ORPHA:2316Мальф.
Autosomal dominant

Joubert syndrome and related disorders

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

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

ORPHA:397715Мальф.
Autosomal recessive

Joubert syndrome with hepatic defect

ORPHA:1454Ауру
Autosomal recessive

Joubert syndrome with ocular defect

ORPHA:220493Мальф.
Autosomal recessive

Joubert syndrome with oculorenal defect

ORPHA:2318Мальф.
Autosomal recessive

Joubert syndrome with renal defect

ORPHA:220497Мальф.
Autosomal recessive

Juberg-Hayward syndrome

ORPHA:2319Мальф.
Autosomal dominant, Autosomal recessive

Junctional epidermolysis bullosa

ORPHA:305Клин. топ
Autosomal recessive

Junctional epidermolysis bullosa inversa

ORPHA:79405Ауру
Autosomal recessive

Junctional epidermolysis bullosa with pyloric atresia

ORPHA:79403Ауру
Autosomal recessive

Jung syndrome

ORPHA:2321Мальф.

Juvenile CLN1 disease

ORPHA:699739Клин. под.
Autosomal recessive

Juvenile CLN10 disease

ORPHA:700497Клин. под.
Autosomal recessive

Juvenile CLN2 disease

ORPHA:699769Клин. под.
Autosomal recessive

Juvenile CLN3 disease

ORPHA:699780Клин. под.
Autosomal recessive

Juvenile CLN5 disease

ORPHA:699807Клин. под.
Autosomal recessive

Juvenile CLN6 disease

ORPHA:700472Клин. под.
Autosomal recessive

Juvenile Huntington disease

ORPHA:248111Ауру
Autosomal dominant

Juvenile Paget disease

ORPHA:2801Мальф.
Autosomal recessive

Juvenile absence epilepsy

ORPHA:1941Ауру
Multigenic/multifactorial, Unknown

Juvenile amyotrophic lateral sclerosis

ORPHA:300605Ауру
Autosomal recessive

Juvenile cataract-microcornea-renal glucosuria syndrome

ORPHA:247794Ауру
Autosomal dominant