Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Intraneural perineurioma
Adolescent, Adult, Childhood
Intraocular medulloepithelioma
Not applicable
Childhood
Intraoral basal cell carcinoma
Not yet documented
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Autosomal recessive
Antenatal, Neonatal
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Autosomal dominant
Antenatal, Neonatal
Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
Antenatal, Neonatal
Intravascular large B-cell lymphoma
Not applicable
Invasive candidiasis
Adult, Elderly, Infancy
Invasive infections due to vancomycin-resistant enterococci
All ages
Invasive mole
Not applicable
Adult
Invasive non-typhoidal salmonellosis
All ages
Invasive scopulariopsis infection
Adolescent, Adult, Childhood, Elderly
Inverted duplicated chromosome 15 syndrome
Not applicable, Unknown
Neonatal
Iridocorneal endothelial syndrome
Not applicable
Adult
Isaacs syndrome
Not applicable
All ages
Isobutyryl-CoA dehydrogenase deficiency
Autosomal recessive
Infancy, Neonatal
Isochromosomy Yp syndrome
Adolescent, Adult
Isochromosomy Yq syndrome
Adolescent, Adult
Isolated ATP synthase deficiency
Autosomal recessive
Neonatal
Isolated Dandy-Walker malformation
Multigenic/multifactorial
Antenatal, Neonatal
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Multigenic/multifactorial
Isolated Joubert syndrome
Autosomal recessive
Antenatal
Isolated Klippel-Feil syndrome
Autosomal dominant, Autosomal recessive, Not applicable
Antenatal, Infancy, Neonatal