MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Mandibuloacral dysplasia

ORPHA:2457Мальформация
Autosomal recessive

Mandibuloacral dysplasia associated to MTX2

ORPHA:647667Мальформация
Autosomal recessive

Mandibuloacral dysplasia with type A lipodystrophy

ORPHA:90153Клин. подтип
Autosomal recessive

Mandibuloacral dysplasia with type B lipodystrophy

ORPHA:90154Клин. подтип
Autosomal recessive

Mandibulofacial dysostosis with alopecia

ORPHA:443995Мальформация
Autosomal dominant, Not applicable

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

ORPHA:357158Заболевание

Mandibulofacial dysostosis-microcephaly syndrome

ORPHA:79113Мальформация
Autosomal dominant

Manganese poisoning

ORPHA:306682Заболевание

Mansonelliasis

ORPHA:2459Заболевание
Not applicable

Mantle cell lymphoma

ORPHA:52416Заболевание
Multigenic/multifactorial, Not applicable

Maple syrup urine disease

ORPHA:511Заболевание
Autosomal recessive

Marbach-Schaaf neurodevelopmental syndrome

ORPHA:692173Заболевание
Autosomal dominant

Marburg acute multiple sclerosis

ORPHA:228157Заболевание
Multigenic/multifactorial

Marburg hemorrhagic fever

ORPHA:99826Заболевание

Marchiafava-Bignami disease

ORPHA:221074Заболевание

Marcus-Gunn syndrome

ORPHA:91412Заболевание
Autosomal dominant

Marden-Walker syndrome

ORPHA:2461Мальформация
Autosomal recessive

Marfan syndrome

ORPHA:558Заболевание
Autosomal dominant

Marfan syndrome type 1

ORPHA:284963Клин. подтип
Autosomal dominant

Marfan syndrome type 2

ORPHA:284973Клин. подтип
Autosomal dominant

Marfanoid habitus-autosomal recessive intellectual disability syndrome

ORPHA:2463Мальформация
Autosomal recessive

Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome

ORPHA:643503Заболевание

Marfanoid habitus-inguinal hernia-advanced bone age syndrome

ORPHA:314041Мальформация

Marfanoid syndrome, De Silva type

ORPHA:2464Мальформация