MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23

ORPHA:565837Ауру
Autosomal recessive

Laminopathy with lipodystrophy

ORPHA:300763Сан.

Laminopathy with peripheral neuropathy

ORPHA:300758Сан.

Laminopathy with premature aging

ORPHA:300766Сан.

Laminopathy with striated muscle involvement

ORPHA:300755Сан.

Landau-Kleffner syndrome

ORPHA:98818Ауру
Autosomal dominant, Unknown

Langer mesomelic dysplasia

ORPHA:2632Мальф.
Autosomal recessive

Langerhans cell histiocytosis

ORPHA:389Ауру
Unknown

Langerhans cell sarcoma

ORPHA:86897Ауру

Large granular lymphocyte leukemia

ORPHA:512034Клин. топ

Large/giant congenital melanocytic nevus

ORPHA:626Ауру
Multigenic/multifactorial

Laron syndrome

ORPHA:633Ауру
Autosomal recessive

Laron syndrome with immunodeficiency

ORPHA:220465Ауру
Autosomal dominant, Autosomal recessive

Larsen syndrome

ORPHA:503Мальф.
Autosomal dominant

Larsen-like osseous dysplasia-short stature syndrome

ORPHA:2370Мальф.

Larsen-like syndrome, B3GAT3 type

ORPHA:284139Мальф.
Autosomal recessive

Laryngeal abductor paralysis

ORPHA:2808Мальф.

Laryngeal abductor paralysis-intellectual disability syndrome

ORPHA:2375Мальф.
X-linked recessive

Laryngeal neuroendocrine tumor

ORPHA:100083Ауру

Laryngo-onycho-cutaneous syndrome

ORPHA:2407Ауру
Autosomal recessive

Laryngocele

ORPHA:2372Мальф.

Laryngotracheoesophageal cleft

ORPHA:2004Морф.
Autosomal dominant, Not applicable

Laryngotracheoesophageal cleft type 0

ORPHA:280205Клин. под.

Laryngotracheoesophageal cleft type 1

ORPHA:93938Клин. под.