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
Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency
Autosomal recessive
Iatrogenic botulism
All ages
Idiopathic acute transverse myelitis
Not applicable
All ages
Idiopathic multicentric Castleman disease
All ages
Idiopathic multidrug-resistant nephrotic syndrome
All ages
Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
All ages
IgG4-related aortitis
Not applicable
Adult, Elderly
IgG4-related dacryoadenitis and sialadenitis
Not applicable
All ages
IgG4-related kidney disease
Not applicable
Adult, Elderly
IgG4-related mediastinitis
Not applicable
IgG4-related mesenteritis
Not applicable
Adult
IgG4-related ophthalmic disease
Not applicable
Adult, Elderly
IgG4-related pachymeningitis
Not applicable
Adult, Elderly
IgG4-related retroperitoneal fibrosis
Not applicable, Unknown
Adult
IgG4-related sclerosing cholangitis
Not applicable
IgG4-related submandibular gland disease
Not applicable
Adult, Elderly
IgG4-related thyroid disease
Not applicable
Adult
Immune hydrops fetalis
Not applicable
Antenatal, Neonatal
Immune-mediated thrombotic thrombocytopenic purpura
Multigenic/multifactorial
All ages
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Multigenic/multifactorial, Unknown
Incomplete congenital stationary night blindness, Schubert-Bornschein type
Autosomal recessive, X-linked recessive
Infant botulism
Infancy, Neonatal
Infantile CLN1 disease
Autosomal recessive
Infantile CLN2 disease
Autosomal recessive