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Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
7,547
Заболевания
4 552
Гены
8 700
Фенотипы
140
Регионы
Все (7,547)Bio anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformationMorphological anomalyClinical situation
Rare ovarian cancer
Rare pulmonary hypertension
Rare surgically correctable form of primary aldosteronism
Not applicable
All ages
Rare thyroid carcinoma
Adult
Rare thyroid tumor
Rare urogenital tumor
Rasmussen subacute encephalitis
Not applicable
Childhood
Rat-bite fever
All ages
Rauch-Steindl syndrome
Antenatal
Ravine syndrome
Autosomal recessive
Infancy
Reactive arthritis
Multigenic/multifactorial, Not applicable
Adolescent, Adult, Elderly
Recessive KLHL7-related disorder
Autosomal recessive
Recessive X-linked ichthyosis
X-linked recessive
Neonatal
Recessive dystrophic epidermolysis bullosa inversa
Autosomal recessive
Infancy, Neonatal
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Autosomal recessive
Infancy, Neonatal
Recessive mitochondrial ataxia syndrome
Autosomal recessive
Adolescent, Childhood
Recombinant 8 syndrome
Unknown
Infancy, Neonatal
Recurrent Neisseria infections due to factor D deficiency
Autosomal recessive
Recurrent hepatitis C virus induced liver disease in liver transplant recipients
Not applicable
All ages
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Unknown
Childhood
Recurrent infections due to specific granule deficiency
Autosomal recessive
Infancy, Neonatal
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Autosomal recessive
Infancy
Recurrent respiratory papillomatosis
Not applicable
Adolescent, Adult, Childhood, Infancy
Reducing body myopathy
Not applicable, X-linked dominant
Adult, Childhood, Infancy