MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Lambert-Eaton myasthenic syndrome

ORPHA:43393Заболевание
Not applicable

Lamellar ichthyosis

ORPHA:313Заболевание
Autosomal dominant, Autosomal recessive

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

ORPHA:565837Заболевание
Autosomal recessive

Landau-Kleffner syndrome

ORPHA:98818Заболевание
Autosomal dominant, Unknown

Langerhans cell histiocytosis

ORPHA:389Заболевание
Unknown

Langerhans cell sarcoma

ORPHA:86897Заболевание

Large/giant congenital melanocytic nevus

ORPHA:626Заболевание
Multigenic/multifactorial

Laron syndrome

ORPHA:633Заболевание
Autosomal recessive

Laron syndrome with immunodeficiency

ORPHA:220465Заболевание
Autosomal dominant, Autosomal recessive

Laryngeal neuroendocrine tumor

ORPHA:100083Заболевание

Laryngo-onycho-cutaneous syndrome

ORPHA:2407Заболевание
Autosomal recessive

Lassa fever

ORPHA:99824Заболевание

Late-onset combined immunodeficiency due to ICOS deficiency

ORPHA:695183Заболевание
Autosomal recessive

Late-onset combined immunodeficiency due to ICOSL deficiency

ORPHA:695191Заболевание

Late-onset distal myopathy, Markesbery-Griggs type

ORPHA:98912Заболевание
Autosomal dominant

Late-onset focal dermal elastosis

ORPHA:228227Заболевание
Not applicable

Late-onset isolated ACTH deficiency

ORPHA:199299Заболевание
Not applicable

Late-onset junctional epidermolysis bullosa

ORPHA:79406Заболевание
Autosomal recessive

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

ORPHA:231556Заболевание
Unknown

Late-onset retinal degeneration

ORPHA:67042Заболевание
Autosomal dominant

Lathosterolosis

ORPHA:46059Заболевание
Autosomal recessive

Lattice corneal dystrophy type I

ORPHA:98964Заболевание
Autosomal dominant

Lead poisoning

ORPHA:330015Заболевание
Not applicable

Leber congenital amaurosis

ORPHA:65Заболевание
Autosomal dominant, Autosomal recessive