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

Linear verrucous nevus syndrome

ORPHA:2611Kr.

Lipoblastoma

ORPHA:247762Kr.
Not applicable

Lipodystrophy due to peptidic growth factors deficiency

ORPHA:1979Kr.
Unknown

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

ORPHA:686999Kr.
Autosomal recessive

Lipodystrophy-intellectual disability-deafness syndrome

ORPHA:50811Kr.
Autosomal recessive

Lipoic acid synthetase deficiency

ORPHA:401859Kr.
Autosomal recessive

Lipoprotein glomerulopathy

ORPHA:329481Kr.
Autosomal dominant

Liposarcoma

ORPHA:69078Kr.
Unknown

Lipoyl transferase 1 deficiency

ORPHA:401862Kr.
Autosomal recessive

Lisch epithelial corneal dystrophy

ORPHA:98955Kr.
X-linked dominant

Lissencephaly due to LIS1 mutation

ORPHA:95232Kr.
Autosomal dominant

Lissencephaly type 1 due to doublecortin gene mutation

ORPHA:2148Kr.
X-linked recessive

Listeriosis

ORPHA:533Kr.
Not applicable

Liver adenomatosis

ORPHA:566841Kr.

Localized dystrophic epidermolysis bullosa

ORPHA:595356Kr.
Autosomal dominant, Autosomal recessive

Localized epidermolysis bullosa simplex

ORPHA:79400Kr.
Autosomal dominant

Localized junctional epidermolysis bullosa

ORPHA:251393Kr.
Autosomal recessive

Localized pagetoid reticulosis

ORPHA:178517Kr.
Not applicable

Localized scleroderma

ORPHA:90289Kr.
Not applicable

Loeffler endocarditis

ORPHA:75566Kr.

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