MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Laryngotracheoesophageal cleft type 2

ORPHA:93939Kl. subt.

Laryngotracheoesophageal cleft type 3

ORPHA:93940Kl. subt.

Laryngotracheoesophageal cleft type 4

ORPHA:93941Kl. subt.

Larynx atresia

ORPHA:1202Malf.
Autosomal dominant

Lassa fever

ORPHA:99824Kr.

Late infantile CACH syndrome

ORPHA:157716Kl. subt.
Autosomal recessive

Late infantile CLN1 disease

ORPHA:699734Kl. subt.
Autosomal recessive

Late infantile CLN10 disease

ORPHA:700492Kl. subt.
Autosomal recessive

Late infantile CLN2 disease

ORPHA:699761Kl. subt.
Autosomal recessive

Late infantile CLN5 disease

ORPHA:699802Kl. subt.

Late infantile CLN6 disease

ORPHA:700467Kl. subt.
Autosomal recessive

Late infantile CLN8 disease

ORPHA:700484Kl. subt.
Autosomal recessive

Late-infantile/juvenile Krabbe disease

ORPHA:206443Kl. subt.
Autosomal recessive

Late-onset Steinert myotonic dystrophy

ORPHA:589833Kl. subt.
Autosomal dominant

Late-onset citrullinemia type I

ORPHA:247573Kl. subt.
Autosomal recessive

Late-onset combined immunodeficiency due to ICOS deficiency

ORPHA:695183Kr.
Autosomal recessive

Late-onset combined immunodeficiency due to ICOSL deficiency

ORPHA:695191Kr.

Late-onset distal myopathy, Markesbery-Griggs type

ORPHA:98912Kr.
Autosomal dominant

Late-onset familial hypoaldosteronism

ORPHA:556037Kl. subt.

Late-onset focal dermal elastosis

ORPHA:228227Kr.
Not applicable

Late-onset idiopathic chronic pancreatitis

ORPHA:700139Kl. subt.
Not applicable

Late-onset isolated ACTH deficiency

ORPHA:199299Kr.
Not applicable

Late-onset junctional epidermolysis bullosa

ORPHA:79406Kr.
Autosomal recessive

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

ORPHA:231556Kr.
Unknown