MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Loeys-Dietz syndrome

ORPHA:60030Malform.
Autosomal dominant, Autosomal recessive

Logopenic progressive aphasia

ORPHA:250831Disease
Multigenic/multifactorial, Not applicable

Loiasis

ORPHA:2404Disease
Not applicable

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

ORPHA:5Disease
Autosomal recessive

Loose anagen syndrome

ORPHA:168Disease
Autosomal dominant

Low oxygen affinity alpha chain hemoglobin disease

ORPHA:715154Etio. sub.
Autosomal dominant

Low oxygen affinity beta chain hemoglobin disease

ORPHA:715157Etio. sub.
Autosomal dominant

Low oxygen affinity gamma chain hemoglobin disease

ORPHA:280615Etio. sub.
Autosomal dominant

Low oxygen affinity hemoglobin disease

ORPHA:715147Disease
Autosomal dominant

Low phospholipid-associated cholelithiasis

ORPHA:69663Disease
Autosomal dominant, Autosomal recessive

Low-flow priapism

ORPHA:140949Situation
Not applicable

Lowe-Kohn-Cohen syndrome

ORPHA:2408Malform.

Lower limb malformation-hypospadias syndrome

ORPHA:2487Malform.

Lower motor neuron syndrome with late-adult onset

ORPHA:276435Disease
Autosomal dominant

Lowry-MacLean syndrome

ORPHA:2409Malform.
Autosomal dominant

Lowry-Wood syndrome

ORPHA:1824Disease
Autosomal recessive

Lujan-Fryns syndrome

ORPHA:776Malform.
X-linked recessive

Lujo hemorrhagic fever

ORPHA:319213Disease

Lung agenesis-heart defect-thumb anomalies syndrome

ORPHA:1120Malform.

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

ORPHA:137631Disease

Lupus erythematosus panniculitis

ORPHA:90285Disease

Lupus erythematosus tumidus

ORPHA:90283Disease

Luscan-Lumish syndrome

ORPHA:597738Malform.
Autosomal dominant

Lyme disease

ORPHA:91546Disease
Not applicable