MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Johanson-Blizzard syndrome

ORPHA:2315Malf.
Autosomal recessive

Johnson neuroectodermal syndrome

ORPHA:2316Malf.
Autosomal dominant

Joubert syndrome and related disorders

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

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

ORPHA:397715Malf.
Autosomal recessive

Joubert syndrome with hepatic defect

ORPHA:1454Kr.
Autosomal recessive

Joubert syndrome with ocular defect

ORPHA:220493Malf.
Autosomal recessive

Joubert syndrome with oculorenal defect

ORPHA:2318Malf.
Autosomal recessive

Joubert syndrome with renal defect

ORPHA:220497Malf.
Autosomal recessive

Juberg-Hayward syndrome

ORPHA:2319Malf.
Autosomal dominant, Autosomal recessive

Junctional epidermolysis bullosa

ORPHA:305Kl. gruppe
Autosomal recessive

Junctional epidermolysis bullosa inversa

ORPHA:79405Kr.
Autosomal recessive

Junctional epidermolysis bullosa with pyloric atresia

ORPHA:79403Kr.
Autosomal recessive

Jung syndrome

ORPHA:2321Malf.

Juvenile CLN1 disease

ORPHA:699739Kl. subt.
Autosomal recessive

Juvenile CLN10 disease

ORPHA:700497Kl. subt.
Autosomal recessive

Juvenile CLN2 disease

ORPHA:699769Kl. subt.
Autosomal recessive

Juvenile CLN3 disease

ORPHA:699780Kl. subt.
Autosomal recessive

Juvenile CLN5 disease

ORPHA:699807Kl. subt.
Autosomal recessive

Juvenile CLN6 disease

ORPHA:700472Kl. subt.
Autosomal recessive

Juvenile Huntington disease

ORPHA:248111Kr.
Autosomal dominant

Juvenile Paget disease

ORPHA:2801Malf.
Autosomal recessive

Juvenile absence epilepsy

ORPHA:1941Kr.
Multigenic/multifactorial, Unknown

Juvenile amyotrophic lateral sclerosis

ORPHA:300605Kr.
Autosomal recessive

Juvenile cataract-microcornea-renal glucosuria syndrome

ORPHA:247794Kr.
Autosomal dominant