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

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

ORPHA:284332Заболевание
Autosomal recessive

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

ORPHA:457205Заболевание
Autosomal recessive

Infantile-onset generalized dyskinesia with orofacial involvement

ORPHA:494526Заболевание
Autosomal recessive

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

ORPHA:714423Заболевание
Autosomal dominant

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

ORPHA:391316Заболевание
Autosomal recessive

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

ORPHA:500062Заболевание
Autosomal recessive

Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

ORPHA:572428Заболевание
Autosomal dominant

Infantile-onset spinocerebellar ataxia

ORPHA:1186Заболевание
Autosomal recessive

Infection-related hemolytic uremic syndrome

ORPHA:544482Заболевание
Not applicable

Infectious anterior uveitis

ORPHA:279922Заболевание

Infectious panuveitis

ORPHA:279925Заболевание

Infectious posterior uveitis

ORPHA:279919Заболевание

Infective dermatitis associated with HTLV-1

ORPHA:289347Заболевание
Not applicable

Infective endocarditis

ORPHA:570762Заболевание

Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome

ORPHA:714472Заболевание
Autosomal dominant

Inflammatory breast cancer

ORPHA:694963Заболевание

Inflammatory myofibroblastic tumor

ORPHA:178342Заболевание

Inflammatory myopathy with abundant macrophages

ORPHA:247718Заболевание
Not applicable

Inflammatory pseudotumor of the liver

ORPHA:90003Заболевание
Not applicable

Inhalational anthrax

ORPHA:247257Заболевание
Not applicable

Inherited Creutzfeldt-Jakob disease

ORPHA:282166Заболевание
Autosomal dominant

Inherited acute myeloid leukemia

ORPHA:319465Заболевание
Autosomal dominant

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

ORPHA:319462Заболевание
Autosomal recessive

Inherited congenital spastic tetraplegia

ORPHA:210141Заболевание
Autosomal recessive, Unknown