Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Atypical Werner syndrome
Autosomal dominant, Unknown
Adolescent, Adult
Atypical chronic myeloid leukemia
Not applicable
Adult
Atypical dentin dysplasia due to SMOC2 deficiency
Autosomal recessive
Infancy, Neonatal
Atypical glycine encephalopathy
Unknown
All ages
Atypical hemolytic uremic syndrome
Autosomal dominant, Autosomal recessive, Not applicable
All ages
Atypical hemolytic uremic syndrome with complement gene abnormality
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 pantothenate kinase-associated neurodegeneration
Autosomal recessive
Childhood
Atypical progressive supranuclear palsy syndrome
Adult, Elderly
Atypical teratoid rhabdoid tumor
Not applicable
Antenatal, Childhood, Infancy, Neonatal
Auditory neuropathy-optic atrophy syndrome
Autosomal recessive
Adolescent, Childhood, Infancy
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Unknown
Antenatal, Infancy, Neonatal
Auriculocondylar syndrome
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Auriculoosteodysplasia
Autosomal dominant
Neonatal
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
Multigenic/multifactorial
All ages
Autoimmune hemolytic anemia, cold type
Multigenic/multifactorial
All ages
Autoimmune hemolytic anemia, warm type
Multigenic/multifactorial
All ages