Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Matthew-Wood syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Maxillonasal dysplasia
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial
Neonatal
Mayer-Rokitansky-Küster-Hauser syndrome
Autosomal dominant, Not applicable
Adolescent, Antenatal
Mazabraud syndrome
Not applicable
Adult
McDonough syndrome
Infancy, Neonatal
McKusick-Kaufman syndrome
Autosomal recessive
Antenatal, Neonatal
Meacham syndrome
Autosomal dominant
Infancy, Neonatal
Meckel syndrome
Autosomal recessive
Antenatal
Median nodule of the upper lip
Autosomal dominant
Infancy, Neonatal
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Infancy, Neonatal
Megalencephaly-capillary malformation-polymicrogyria syndrome
Not applicable
Antenatal, Neonatal
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Autosomal recessive
Neonatal
Megalocornea-intellectual disability syndrome
Childhood, Infancy, Neonatal
Melhem-Fahl syndrome
Neonatal
Melkersson-Rosenthal syndrome
Childhood
Melnick-Needles syndrome
X-linked dominant
Childhood
Melorheostosis
Not applicable
All ages
Melorheostosis with osteopoikilosis
Autosomal dominant
All ages
Menke-Hennekam syndrome
Autosomal dominant
Antenatal, 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