MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Linear verrucous nevus syndrome

ORPHA:2611Disease

Lipoblastoma

ORPHA:247762Disease
Not applicable

Lipodystrophy due to peptidic growth factors deficiency

ORPHA:1979Disease
Unknown

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

ORPHA:686999Disease
Autosomal recessive

Lipodystrophy-intellectual disability-deafness syndrome

ORPHA:50811Disease
Autosomal recessive

Lipoic acid synthetase deficiency

ORPHA:401859Disease
Autosomal recessive

Lipoprotein glomerulopathy

ORPHA:329481Disease
Autosomal dominant

Liposarcoma

ORPHA:69078Disease
Unknown

Lipoyl transferase 1 deficiency

ORPHA:401862Disease
Autosomal recessive

Lisch epithelial corneal dystrophy

ORPHA:98955Disease
X-linked dominant

Lissencephaly due to LIS1 mutation

ORPHA:95232Disease
Autosomal dominant

Lissencephaly type 1 due to doublecortin gene mutation

ORPHA:2148Disease
X-linked recessive

Listeriosis

ORPHA:533Disease
Not applicable

Liver adenomatosis

ORPHA:566841Disease

Localized dystrophic epidermolysis bullosa

ORPHA:595356Disease
Autosomal dominant, Autosomal recessive

Localized epidermolysis bullosa simplex

ORPHA:79400Disease
Autosomal dominant

Localized junctional epidermolysis bullosa

ORPHA:251393Disease
Autosomal recessive

Localized pagetoid reticulosis

ORPHA:178517Disease
Not applicable

Localized scleroderma

ORPHA:90289Disease
Not applicable

Loeffler endocarditis

ORPHA:75566Disease

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