MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 47 заболеваний (Clinical syndrome)Сбросить

Acute adrenal insufficiency

ORPHA:95409Clinical syndrome
Autosomal recessive, Not applicable, X-linked dominant

Acute bilirubin encephalopathy

ORPHA:529799Clinical syndrome

Acute liver failure

ORPHA:90062Clinical syndrome
Not applicable

Atypical Meigs syndrome

ORPHA:314466Clinical syndrome
Not applicable

Balint syndrome

ORPHA:363746Clinical syndrome
Not applicable

Baroreflex failure

ORPHA:443084Clinical syndrome
Not applicable

Carcinoid syndrome

ORPHA:100093Clinical syndrome
Not applicable

Cerebral visual impairment

ORPHA:447788Clinical syndrome
Not applicable

Chronic bilirubin encephalopathy

ORPHA:529808Clinical syndrome
Not applicable

Chronic intestinal failure

ORPHA:294422Clinical syndrome
Not applicable

Chronic intestinal pseudoobstruction syndrome

ORPHA:2978Clinical syndrome

Diffuse alveolar hemorrhage

ORPHA:90060Clinical syndrome
Not applicable

Early infantile developmental and epileptic encephalopathy

ORPHA:1934Clinical syndrome
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive

Familial developmental dysphasia

ORPHA:1799Clinical syndrome
Autosomal dominant

Frey syndrome

ORPHA:662240Clinical syndrome
Not applicable

Grisel syndrome

ORPHA:662255Clinical syndrome
Not applicable

Idiopathic dropped head syndrome

ORPHA:447881Clinical syndrome
Not applicable

Idiopathic non-lupus full-house nephropathy

ORPHA:567544Clinical syndrome

Idiopathic steroid-resistant nephrotic syndrome

ORPHA:567548Clinical syndrome

Idiopathic steroid-sensitive nephrotic syndrome

ORPHA:69061Clinical syndrome
Unknown

Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance

ORPHA:567546Clinical syndrome

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome

ORPHA:615954Clinical syndrome

Livedoid vasculopathy

ORPHA:542643Clinical syndrome

Locked-in syndrome

ORPHA:2406Clinical syndrome
Not applicable