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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Linear focal elastosis

ORPHA:228236Disease
Not applicable

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

ORPHA:589608Disease
Not applicable

Linear lichen planus

ORPHA:254379Disease

Linear nevus sebaceus syndrome

ORPHA:2612Disease
Not applicable

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 biosynthesis defect

ORPHA:401854Cat.
Autosomal recessive

Lipoic acid synthetase deficiency

ORPHA:401859Disease
Autosomal recessive

Lipoid proteinosis

ORPHA:530Malform.
Autosomal recessive

Lipoprotein glomerulopathy

ORPHA:329481Disease
Autosomal dominant

Liposarcoma

ORPHA:69078Disease
Unknown

Lipoyl transferase 1 deficiency

ORPHA:401862Disease
Autosomal recessive

Lipoyl transferase 2 deficiency

ORPHA:447795Bio anom.
No data available

Lisch epithelial corneal dystrophy

ORPHA:98955Disease
X-linked dominant

Lissencephaly

ORPHA:48471Cat.

Lissencephaly due to LIS1 mutation

ORPHA:95232Disease
Autosomal dominant

Lissencephaly due to TUBA1A mutation

ORPHA:171680Malform.
Autosomal dominant, Not applicable

Lissencephaly syndrome, Norman-Roberts type

ORPHA:89844Clin. sub.
Autosomal recessive

Lissencephaly type 1 due to doublecortin gene mutation

ORPHA:2148Disease
X-linked recessive

Lissencephaly type 3-familial fetal akinesia sequence syndrome

ORPHA:86821Malform.
Autosomal recessive

Lissencephaly type 3-metacarpal bone dysplasia syndrome

ORPHA:86822Malform.
Autosomal recessive