Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Autosomal recessive
Infancy, Neonatal
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Autosomal recessive
Infancy, Neonatal
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Autosomal recessive
Childhood
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Autosomal recessive
Childhood
Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Autosomal recessive
Infancy
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Autosomal dominant
Infancy, Neonatal
Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
Autosomal recessive
All ages
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Autosomal dominant
Childhood
Meningioma
Not applicable
All ages
Meningococcal meningitis
Not applicable
All ages
Menke-Hennekam syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
Menkes disease
X-linked recessive
Neonatal
Menstrual cycle-dependent periodic fever
Adolescent, Adult
Mercury poisoning
Not applicable
All ages
Mesial temporal lobe epilepsy with hippocampal sclerosis
Adolescent, Adult, Childhood, Elderly, Infancy
Mesoaxial synostotic syndactyly with phalangeal reduction
Autosomal recessive
Infancy, Neonatal
Mesomelia-synostoses syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
Mesomelic dwarfism, Reinhardt-Pfeiffer type
Autosomal dominant
Antenatal, Infancy, Neonatal
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Autosomal recessive
Neonatal
Mesomelic dysplasia, Kantaputra type
Autosomal dominant
Neonatal
Mesomelic dysplasia, Nievergelt type
Autosomal dominant
Antenatal, Neonatal
Mesomelic dysplasia, Savarirayan type
Not applicable
Infancy, Neonatal
Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
Infancy, Neonatal
Mesothelioma of the tunica vaginalis
Elderly