MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Linear focal elastosis

ORPHA:228236Ауру
Not applicable

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

ORPHA:589608Ауру
Not applicable

Linear lichen planus

ORPHA:254379Ауру

Linear nevus sebaceus syndrome

ORPHA:2612Ауру
Not applicable

Linear verrucous nevus syndrome

ORPHA:2611Ауру

Lipoblastoma

ORPHA:247762Ауру
Not applicable

Lipodystrophy due to peptidic growth factors deficiency

ORPHA:1979Ауру
Unknown

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

ORPHA:686999Ауру
Autosomal recessive

Lipodystrophy-intellectual disability-deafness syndrome

ORPHA:50811Ауру
Autosomal recessive

Lipoic acid biosynthesis defect

ORPHA:401854Сан.
Autosomal recessive

Lipoic acid synthetase deficiency

ORPHA:401859Ауру
Autosomal recessive

Lipoid proteinosis

ORPHA:530Мальф.
Autosomal recessive

Lipoprotein glomerulopathy

ORPHA:329481Ауру
Autosomal dominant

Liposarcoma

ORPHA:69078Ауру
Unknown

Lipoyl transferase 1 deficiency

ORPHA:401862Ауру
Autosomal recessive

Lipoyl transferase 2 deficiency

ORPHA:447795Био аном.
No data available

Lisch epithelial corneal dystrophy

ORPHA:98955Ауру
X-linked dominant

Lissencephaly

ORPHA:48471Сан.

Lissencephaly due to LIS1 mutation

ORPHA:95232Ауру
Autosomal dominant

Lissencephaly due to TUBA1A mutation

ORPHA:171680Мальф.
Autosomal dominant, Not applicable

Lissencephaly syndrome, Norman-Roberts type

ORPHA:89844Клин. под.
Autosomal recessive

Lissencephaly type 1 due to doublecortin gene mutation

ORPHA:2148Ауру
X-linked recessive

Lissencephaly type 3-familial fetal akinesia sequence syndrome

ORPHA:86821Мальф.
Autosomal recessive

Lissencephaly type 3-metacarpal bone dysplasia syndrome

ORPHA:86822Мальф.
Autosomal recessive