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

Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis

ORPHA:324964Заболевание
Not applicable

Chronic pneumonitis of infancy

ORPHA:91359Заболевание
Not applicable

Chronic respiratory distress with surfactant metabolism deficiency

ORPHA:217566Заболевание
Autosomal dominant

Chronic thromboembolic pulmonary hypertension

ORPHA:70591Заболевание
Not applicable

Chronic visceral acid sphingomyelinase deficiency

ORPHA:77293Заболевание
Autosomal recessive

Chuvash erythrocytosis

ORPHA:238557Заболевание
Autosomal recessive

Chylomicron retention disease

ORPHA:71Заболевание
Autosomal recessive

Chylous ascites

ORPHA:1160Заболевание

Chédiak-Higashi syndrome

ORPHA:167Заболевание
Autosomal recessive

Circumscribed palmoplantar hypokeratosis

ORPHA:69744Заболевание
Unknown

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

ORPHA:309854Заболевание
Autosomal recessive

Citrullinemia type I

ORPHA:247525Заболевание
Autosomal recessive

Citrullinemia type II

ORPHA:247585Заболевание
Autosomal recessive

Class I glucose-6-phosphate dehydrogenase deficiency

ORPHA:466026Заболевание
X-linked recessive

Classic Hodgkin lymphoma

ORPHA:391Заболевание
Unknown

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

ORPHA:90794Заболевание
Autosomal recessive

Classic eosinophilic pustular folliculitis

ORPHA:617408Заболевание

Classic galactosemia

ORPHA:79239Заболевание
Autosomal recessive

Classic glucose transporter type 1 deficiency syndrome

ORPHA:71277Заболевание
Autosomal dominant, Autosomal recessive

Classic hairy cell leukemia

ORPHA:58017Заболевание
Unknown

Classic heparin-induced thrombocytopenia

ORPHA:3325Заболевание
Not applicable

Classic mycosis fungoides

ORPHA:2584Заболевание
Multigenic/multifactorial, Not applicable

Classical Ehlers-Danlos syndrome

ORPHA:287Заболевание
Autosomal dominant

Classical-like Ehlers-Danlos syndrome type 1

ORPHA:230839Заболевание
Autosomal recessive