Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Mandibuloacral dysplasia
Autosomal recessive
Infancy, Neonatal
Mandibuloacral dysplasia associated to MTX2
Autosomal recessive
Childhood
Mandibuloacral dysplasia with type A lipodystrophy
Autosomal recessive
Infancy, Neonatal
Mandibuloacral dysplasia with type B lipodystrophy
Autosomal recessive
Infancy, Neonatal
Mandibulofacial dysostosis with alopecia
Autosomal dominant, Not applicable
Infancy, Neonatal
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Infancy, Neonatal
Mandibulofacial dysostosis-microcephaly syndrome
Autosomal dominant
Neonatal
Manganese poisoning
All ages
Mansonelliasis
Not applicable
All ages
Mantle cell lymphoma
Multigenic/multifactorial, Not applicable
Adult
Maple syrup urine disease
Autosomal recessive
Childhood, Infancy, Neonatal
Marbach-Schaaf neurodevelopmental syndrome
Autosomal dominant
Infancy, Neonatal
Marburg acute multiple sclerosis
Multigenic/multifactorial
Adult
Marburg hemorrhagic fever
All ages
Marchiafava-Bignami disease
Adult
Marcus-Gunn syndrome
Autosomal dominant
Infancy, Neonatal
Marden-Walker syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Marfan syndrome
Autosomal dominant
All ages
Marfan syndrome type 1
Autosomal dominant
All ages
Marfan syndrome type 2
Autosomal dominant
All ages
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Autosomal recessive
Childhood, Infancy
Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
Neonatal
Marfanoid habitus-inguinal hernia-advanced bone age syndrome
Antenatal, Infancy, Neonatal
Marfanoid syndrome, De Silva type
Adult, Childhood