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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

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

ORPHA:284332Disease
Autosomal recessive

Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

ORPHA:457205Disease
Autosomal recessive

Infantile-onset generalized dyskinesia with orofacial involvement

ORPHA:494526Disease
Autosomal recessive

Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome

ORPHA:714423Disease
Autosomal dominant

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

ORPHA:391316Disease
Autosomal recessive

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

ORPHA:500062Disease
Autosomal recessive

Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

ORPHA:572428Disease
Autosomal dominant

Infantile-onset spinocerebellar ataxia

ORPHA:1186Disease
Autosomal recessive

Infection-related hemolytic uremic syndrome

ORPHA:544482Disease
Not applicable

Infectious anterior uveitis

ORPHA:279922Disease

Infectious panuveitis

ORPHA:279925Disease

Infectious posterior uveitis

ORPHA:279919Disease

Infective dermatitis associated with HTLV-1

ORPHA:289347Disease
Not applicable

Infective endocarditis

ORPHA:570762Disease

Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome

ORPHA:714472Disease
Autosomal dominant

Inflammatory breast cancer

ORPHA:694963Disease

Inflammatory myofibroblastic tumor

ORPHA:178342Disease

Inflammatory myopathy with abundant macrophages

ORPHA:247718Disease
Not applicable

Inflammatory pseudotumor of the liver

ORPHA:90003Disease
Not applicable

Inhalational anthrax

ORPHA:247257Disease
Not applicable

Inherited Creutzfeldt-Jakob disease

ORPHA:282166Disease
Autosomal dominant

Inherited acute myeloid leukemia

ORPHA:319465Disease
Autosomal dominant

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

ORPHA:319462Disease
Autosomal recessive

Inherited congenital spastic tetraplegia

ORPHA:210141Disease
Autosomal recessive, Unknown