MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Linear focal elastosis

ORPHA:228236Kr.
Not applicable

Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies

ORPHA:589608Kr.
Not applicable

Linear lichen planus

ORPHA:254379Kr.

Linear nevus sebaceus syndrome

ORPHA:2612Kr.
Not applicable

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 biosynthesis defect

ORPHA:401854Kat.
Autosomal recessive

Lipoic acid synthetase deficiency

ORPHA:401859Kr.
Autosomal recessive

Lipoid proteinosis

ORPHA:530Malf.
Autosomal recessive

Lipoprotein glomerulopathy

ORPHA:329481Kr.
Autosomal dominant

Liposarcoma

ORPHA:69078Kr.
Unknown

Lipoyl transferase 1 deficiency

ORPHA:401862Kr.
Autosomal recessive

Lipoyl transferase 2 deficiency

ORPHA:447795Bio-An.
No data available

Lisch epithelial corneal dystrophy

ORPHA:98955Kr.
X-linked dominant

Lissencephaly

ORPHA:48471Kat.

Lissencephaly due to LIS1 mutation

ORPHA:95232Kr.
Autosomal dominant

Lissencephaly due to TUBA1A mutation

ORPHA:171680Malf.
Autosomal dominant, Not applicable

Lissencephaly syndrome, Norman-Roberts type

ORPHA:89844Kl. subt.
Autosomal recessive

Lissencephaly type 1 due to doublecortin gene mutation

ORPHA:2148Kr.
X-linked recessive

Lissencephaly type 3-familial fetal akinesia sequence syndrome

ORPHA:86821Malf.
Autosomal recessive

Lissencephaly type 3-metacarpal bone dysplasia syndrome

ORPHA:86822Malf.
Autosomal recessive