MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Loeys-Dietz syndrome

ORPHA:60030Порок
Autosomal dominant, Autosomal recessive

Logopenic progressive aphasia

ORPHA:250831Заболевание
Multigenic/multifactorial, Not applicable

Loiasis

ORPHA:2404Заболевание
Not applicable

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

ORPHA:5Заболевание
Autosomal recessive

Loose anagen syndrome

ORPHA:168Заболевание
Autosomal dominant

Low oxygen affinity alpha chain hemoglobin disease

ORPHA:715154Этиол. подт.
Autosomal dominant

Low oxygen affinity beta chain hemoglobin disease

ORPHA:715157Этиол. подт.
Autosomal dominant

Low oxygen affinity gamma chain hemoglobin disease

ORPHA:280615Этиол. подт.
Autosomal dominant

Low oxygen affinity hemoglobin disease

ORPHA:715147Заболевание
Autosomal dominant

Low phospholipid-associated cholelithiasis

ORPHA:69663Заболевание
Autosomal dominant, Autosomal recessive

Low-flow priapism

ORPHA:140949Ситуация
Not applicable

Lowe-Kohn-Cohen syndrome

ORPHA:2408Порок

Lower limb malformation-hypospadias syndrome

ORPHA:2487Порок

Lower motor neuron syndrome with late-adult onset

ORPHA:276435Заболевание
Autosomal dominant

Lowry-MacLean syndrome

ORPHA:2409Порок
Autosomal dominant

Lowry-Wood syndrome

ORPHA:1824Заболевание
Autosomal recessive

Lujan-Fryns syndrome

ORPHA:776Порок
X-linked recessive

Lujo hemorrhagic fever

ORPHA:319213Заболевание

Lung agenesis-heart defect-thumb anomalies syndrome

ORPHA:1120Порок

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

ORPHA:137631Заболевание

Lupus erythematosus panniculitis

ORPHA:90285Заболевание

Lupus erythematosus tumidus

ORPHA:90283Заболевание

Luscan-Lumish syndrome

ORPHA:597738Порок
Autosomal dominant

Lyme disease

ORPHA:91546Заболевание
Not applicable