MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Loeys-Dietz syndrome

ORPHA:60030Malf.
Autosomal dominant, Autosomal recessive

Logopenic progressive aphasia

ORPHA:250831Kr.
Multigenic/multifactorial, Not applicable

Loiasis

ORPHA:2404Kr.
Not applicable

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

ORPHA:5Kr.
Autosomal recessive

Loose anagen syndrome

ORPHA:168Kr.
Autosomal dominant

Low oxygen affinity alpha chain hemoglobin disease

ORPHA:715154Ätl. subt.
Autosomal dominant

Low oxygen affinity beta chain hemoglobin disease

ORPHA:715157Ätl. subt.
Autosomal dominant

Low oxygen affinity gamma chain hemoglobin disease

ORPHA:280615Ätl. subt.
Autosomal dominant

Low oxygen affinity hemoglobin disease

ORPHA:715147Kr.
Autosomal dominant

Low phospholipid-associated cholelithiasis

ORPHA:69663Kr.
Autosomal dominant, Autosomal recessive

Low-flow priapism

ORPHA:140949spez. Sit.
Not applicable

Lowe-Kohn-Cohen syndrome

ORPHA:2408Malf.

Lower limb malformation-hypospadias syndrome

ORPHA:2487Malf.

Lower motor neuron syndrome with late-adult onset

ORPHA:276435Kr.
Autosomal dominant

Lowry-MacLean syndrome

ORPHA:2409Malf.
Autosomal dominant

Lowry-Wood syndrome

ORPHA:1824Kr.
Autosomal recessive

Lujan-Fryns syndrome

ORPHA:776Malf.
X-linked recessive

Lujo hemorrhagic fever

ORPHA:319213Kr.

Lung agenesis-heart defect-thumb anomalies syndrome

ORPHA:1120Malf.

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

ORPHA:137631Kr.

Lupus erythematosus panniculitis

ORPHA:90285Kr.

Lupus erythematosus tumidus

ORPHA:90283Kr.

Luscan-Lumish syndrome

ORPHA:597738Malf.
Autosomal dominant

Lyme disease

ORPHA:91546Kr.
Not applicable