Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Mammary-digital-nail syndrome
Autosomal dominant
Infancy, Neonatal
Mandibuloacral dysplasia
Autosomal recessive
Infancy, Neonatal
Mandibuloacral dysplasia associated to MTX2
Autosomal recessive
Childhood
Mandibulofacial dysostosis with alopecia
Autosomal dominant, Not applicable
Infancy, Neonatal
Mandibulofacial dysostosis-microcephaly syndrome
Autosomal dominant
Neonatal
Marden-Walker syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Autosomal recessive
Childhood, Infancy
Marfanoid habitus-inguinal hernia-advanced bone age syndrome
Antenatal, Infancy, Neonatal
Marfanoid syndrome, De Silva type
Adult, Childhood
Marshall syndrome
Autosomal dominant, Autosomal recessive
Neonatal
Marshall-Smith syndrome
Autosomal dominant
Infancy, Neonatal
Maternal hyperthermia-induced birth defects
Antenatal, Neonatal
Maternal phenylketonuria syndrome
Autosomal recessive
Antenatal, Neonatal
Maternal uniparental disomy of chromosome 1 syndrome
Not applicable, Unknown
Infancy, Neonatal
Maternal uniparental disomy of chromosome 13 syndrome
Adult
Maternal uniparental disomy of chromosome 16 syndrome
Antenatal, Neonatal
Maternal uniparental disomy of chromosome 2 syndrome
Antenatal, Neonatal
Maternal uniparental disomy of chromosome 20 syndrome
Antenatal, Neonatal
Maternal uniparental disomy of chromosome 21 syndrome
Maternal uniparental disomy of chromosome 22 syndrome
Antenatal, Infancy, Neonatal
Maternal uniparental disomy of chromosome 4 syndrome
Antenatal, Neonatal
Maternal uniparental disomy of chromosome 6 syndrome
Antenatal, Neonatal
Maternal uniparental disomy of chromosome 9 syndrome
Antenatal, Neonatal
Maternal uniparental disomy of chromosome X syndrome
Neonatal