MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Lambert-Eaton myasthenic syndrome

ORPHA:43393Kr.
Not applicable

Lamellar ichthyosis

ORPHA:313Kr.
Autosomal dominant, Autosomal recessive

Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23

ORPHA:565837Kr.
Autosomal recessive

Landau-Kleffner syndrome

ORPHA:98818Kr.
Autosomal dominant, Unknown

Langerhans cell histiocytosis

ORPHA:389Kr.
Unknown

Langerhans cell sarcoma

ORPHA:86897Kr.

Large/giant congenital melanocytic nevus

ORPHA:626Kr.
Multigenic/multifactorial

Laron syndrome

ORPHA:633Kr.
Autosomal recessive

Laron syndrome with immunodeficiency

ORPHA:220465Kr.
Autosomal dominant, Autosomal recessive

Laryngeal neuroendocrine tumor

ORPHA:100083Kr.

Laryngo-onycho-cutaneous syndrome

ORPHA:2407Kr.
Autosomal recessive

Lassa fever

ORPHA:99824Kr.

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 focal dermal elastosis

ORPHA:228227Kr.
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

Late-onset retinal degeneration

ORPHA:67042Kr.
Autosomal dominant

Lathosterolosis

ORPHA:46059Kr.
Autosomal recessive

Lattice corneal dystrophy type I

ORPHA:98964Kr.
Autosomal dominant

Lead poisoning

ORPHA:330015Kr.
Not applicable

Leber congenital amaurosis

ORPHA:65Kr.
Autosomal dominant, Autosomal recessive