Orphanet Database • Orphadata CC-BY-4.0
Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
7,547
Заболеваний
4 552
Генов
8 700
Фенотипов
140
Регионов
Все (7,547)Biological anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformation syndromeMorphological anomalyParticular clinical situation in a disease or syndrome
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Autosomal recessive
Infancy, Neonatal
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Autosomal recessive
Infancy
Infantile-onset generalized dyskinesia with orofacial involvement
Autosomal recessive
Infancy
Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome
Autosomal dominant
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Autosomal recessive
Infancy, Neonatal
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Autosomal recessive
Infancy, Neonatal
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
Autosomal dominant
Infancy
Infantile-onset spinocerebellar ataxia
Autosomal recessive
Infancy
Infection-related hemolytic uremic syndrome
Not applicable
All ages
Infectious anterior uveitis
All ages
Infectious panuveitis
All ages
Infectious posterior uveitis
All ages
Infective dermatitis associated with HTLV-1
Not applicable
Childhood
Infective endocarditis
All ages
Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome
Autosomal dominant
Inflammatory breast cancer
Inflammatory myofibroblastic tumor
Inflammatory myopathy with abundant macrophages
Not applicable
Inflammatory pseudotumor of the liver
Not applicable
All ages
Inhalational anthrax
Not applicable
All ages
Inherited Creutzfeldt-Jakob disease
Autosomal dominant
Adult, Elderly
Inherited acute myeloid leukemia
Autosomal dominant
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Autosomal recessive
Inherited congenital spastic tetraplegia
Autosomal recessive, Unknown
Infancy, Neonatal