Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Atrophic lichen planus
All ages
Atrophic papulosis
Adult
Atrophoderma of Pasini and Pierini
Adult
Atrophoderma vermiculata
Autosomal recessive, Unknown
Childhood
Attenuated Chédiak-Higashi syndrome
Autosomal recessive
Childhood
Attenuated familial adenomatous polyposis
Autosomal dominant, Autosomal recessive
Adult
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
Autosomal dominant
Neonatal
Atypical Rett syndrome
Autosomal dominant, X-linked dominant
Neonatal
Atypical Werner syndrome
Autosomal dominant, Unknown
Adolescent, Adult
Atypical chronic myeloid leukemia
Not applicable
Adult
Atypical hemolytic uremic syndrome
Autosomal dominant, Autosomal recessive, Not applicable
All ages
Atypical hypotonia-cystinuria syndrome
Autosomal recessive
Infancy, Neonatal
Atypical juvenile parkinsonism
Autosomal recessive, Not applicable
Adolescent, Adult
Atypical lichen myxedematosus
Adolescent, Adult, Elderly
Atypical teratoid rhabdoid tumor
Not applicable
Antenatal, Childhood, Infancy, Neonatal
Auditory neuropathy-optic atrophy syndrome
Autosomal recessive
Adolescent, Childhood, Infancy
Autism spectrum disorder due to AUTS2 deficiency
Autosomal dominant
Infancy, Neonatal
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Autosomal recessive
Infancy, Neonatal
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Autosomal recessive
Childhood
Autoerythrocyte sensitization syndrome
Adult
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Not applicable
Adult, Elderly
Autoimmune hemolytic anemia, warm type
Multigenic/multifactorial
All ages
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
Autosomal recessive
Childhood, Infancy
Autoimmune hepatitis
Not applicable
Adolescent, Adult, Childhood, Elderly