MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Linear focal elastosis

ORPHA:228236Заболевание
Not applicable

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

ORPHA:589608Заболевание
Not applicable

Linear lichen planus

ORPHA:254379Заболевание

Linear nevus sebaceus syndrome

ORPHA:2612Заболевание
Not applicable

Linear verrucous nevus syndrome

ORPHA:2611Заболевание

Lipoblastoma

ORPHA:247762Заболевание
Not applicable

Lipodystrophy due to peptidic growth factors deficiency

ORPHA:1979Заболевание
Unknown

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

ORPHA:686999Заболевание
Autosomal recessive

Lipodystrophy-intellectual disability-deafness syndrome

ORPHA:50811Заболевание
Autosomal recessive

Lipoic acid biosynthesis defect

ORPHA:401854Категория
Autosomal recessive

Lipoic acid synthetase deficiency

ORPHA:401859Заболевание
Autosomal recessive

Lipoid proteinosis

ORPHA:530Мальформация
Autosomal recessive

Lipoprotein glomerulopathy

ORPHA:329481Заболевание
Autosomal dominant

Liposarcoma

ORPHA:69078Заболевание
Unknown

Lipoyl transferase 1 deficiency

ORPHA:401862Заболевание
Autosomal recessive

Lipoyl transferase 2 deficiency

ORPHA:447795Биоаномалия
No data available

Lisch epithelial corneal dystrophy

ORPHA:98955Заболевание
X-linked dominant

Lissencephaly

ORPHA:48471Категория

Lissencephaly due to LIS1 mutation

ORPHA:95232Заболевание
Autosomal dominant

Lissencephaly due to TUBA1A mutation

ORPHA:171680Мальформация
Autosomal dominant, Not applicable

Lissencephaly syndrome, Norman-Roberts type

ORPHA:89844Клин. подтип
Autosomal recessive

Lissencephaly type 1 due to doublecortin gene mutation

ORPHA:2148Заболевание
X-linked recessive

Lissencephaly type 3-familial fetal akinesia sequence syndrome

ORPHA:86821Мальформация
Autosomal recessive

Lissencephaly type 3-metacarpal bone dysplasia syndrome

ORPHA:86822Мальформация
Autosomal recessive