MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Lissencephaly with cerebellar hypoplasia

ORPHA:86823Clin. grp.

Lissencephaly with cerebellar hypoplasia type A

ORPHA:100011Malform.

Lissencephaly with cerebellar hypoplasia type B

ORPHA:100012Malform.

Lissencephaly with cerebellar hypoplasia type C

ORPHA:100013Malform.

Lissencephaly with cerebellar hypoplasia type D

ORPHA:100014Malform.

Lissencephaly with cerebellar hypoplasia type E

ORPHA:100015Malform.

Lissencephaly with cerebellar hypoplasia type F

ORPHA:100016Malform.

Listeriosis

ORPHA:533Disease
Not applicable

Livedoid vasculopathy

ORPHA:542643Clinical syndrome

Liver adenomatosis

ORPHA:566841Disease

Lobar holoprosencephaly

ORPHA:93924Clin. sub.
Multigenic/multifactorial, Not applicable

Localized dystrophic epidermolysis bullosa

ORPHA:595356Disease
Autosomal dominant, Autosomal recessive

Localized dystrophic epidermolysis bullosa, acral form

ORPHA:158673Clin. sub.
Autosomal dominant, Autosomal recessive

Localized dystrophic epidermolysis bullosa, nails only

ORPHA:158676Clin. sub.
Autosomal dominant, Autosomal recessive

Localized dystrophic epidermolysis bullosa, pretibial form

ORPHA:79410Clin. sub.
Autosomal dominant, Autosomal recessive

Localized epidermolysis bullosa simplex

ORPHA:79400Disease
Autosomal dominant

Localized junctional epidermolysis bullosa

ORPHA:251393Disease
Autosomal recessive

Localized lichen myxedematosus with mixed features of different subtypes

ORPHA:90398Clin. sub.

Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms

ORPHA:90399Clin. sub.

Localized lipodystrophy

ORPHA:79088Clin. grp.
Unknown

Localized pagetoid reticulosis

ORPHA:178517Disease
Not applicable

Localized scleroderma

ORPHA:90289Disease
Not applicable

Locked-in syndrome

ORPHA:2406Clinical syndrome
Not applicable

Loeffler endocarditis

ORPHA:75566Disease