Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Angelman syndrome due to a point mutation
Not applicable
Infancy
Angelman syndrome due to imprinting defect in 15q11-q13
Not applicable
Infancy
Angelman syndrome due to maternal 15q11q13 deletion
Infancy
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Infancy
Angiocentric glioma
All ages
Angioimmunoblastic T-cell lymphoma
Not applicable
Adult
Angioma serpiginosum
Autosomal dominant, Not applicable, X-linked recessive
Childhood
Angiomatoid fibrous histiocytoma
Adolescent, Adult, Childhood
Angiosarcoma
Not applicable
Adult
Angiostrongyliasis
Not applicable
All ages
Angora hair nevus
Not applicable, Unknown
Infancy, Neonatal
Aniridia-absent patella syndrome
Autosomal dominant
Antenatal, Neonatal
Aniridia-cerebellar ataxia-intellectual disability syndrome
Autosomal dominant, Autosomal recessive, Not applicable
Infancy, Neonatal
Aniridia-intellectual disability syndrome
Autosomal dominant
Childhood
Aniridia-ptosis-intellectual disability-familial obesity syndrome
Autosomal dominant
Childhood
Aniridia-renal agenesis-psychomotor retardation syndrome
Autosomal recessive
Neonatal
Anisakiasis
Adolescent, Adult, Childhood, Elderly
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Autosomal dominant
Neonatal
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Unknown
Neonatal
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Autosomal dominant
Neonatal
Ankylosing vertebral hyperostosis with tylosis
Autosomal dominant
Adult
Ankylostomiasis
Not applicable
All ages
Annular atrophic lichen planus
Adult
Annular epidermolytic ichthyosis
Autosomal dominant
Infancy, Neonatal