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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis

ORPHA:324964Disease
Not applicable

Chronic pneumonitis of infancy

ORPHA:91359Disease
Not applicable

Chronic respiratory distress with surfactant metabolism deficiency

ORPHA:217566Disease
Autosomal dominant

Chronic thromboembolic pulmonary hypertension

ORPHA:70591Disease
Not applicable

Chronic visceral acid sphingomyelinase deficiency

ORPHA:77293Disease
Autosomal recessive

Chuvash erythrocytosis

ORPHA:238557Disease
Autosomal recessive

Chylomicron retention disease

ORPHA:71Disease
Autosomal recessive

Chylous ascites

ORPHA:1160Disease

Chédiak-Higashi syndrome

ORPHA:167Disease
Autosomal recessive

Circumscribed palmoplantar hypokeratosis

ORPHA:69744Disease
Unknown

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

ORPHA:309854Disease
Autosomal recessive

Citrullinemia type I

ORPHA:247525Disease
Autosomal recessive

Citrullinemia type II

ORPHA:247585Disease
Autosomal recessive

Class I glucose-6-phosphate dehydrogenase deficiency

ORPHA:466026Disease
X-linked recessive

Classic Hodgkin lymphoma

ORPHA:391Disease
Unknown

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

ORPHA:90794Disease
Autosomal recessive

Classic eosinophilic pustular folliculitis

ORPHA:617408Disease

Classic galactosemia

ORPHA:79239Disease
Autosomal recessive

Classic glucose transporter type 1 deficiency syndrome

ORPHA:71277Disease
Autosomal dominant, Autosomal recessive

Classic hairy cell leukemia

ORPHA:58017Disease
Unknown

Classic heparin-induced thrombocytopenia

ORPHA:3325Disease
Not applicable

Classic mycosis fungoides

ORPHA:2584Disease
Multigenic/multifactorial, Not applicable

Classical Ehlers-Danlos syndrome

ORPHA:287Disease
Autosomal dominant

Classical-like Ehlers-Danlos syndrome type 1

ORPHA:230839Disease
Autosomal recessive