MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Mandibuloacral dysplasia

ORPHA:2457Malform.
Autosomal recessive

Mandibuloacral dysplasia associated to MTX2

ORPHA:647667Malform.
Autosomal recessive

Mandibuloacral dysplasia with type A lipodystrophy

ORPHA:90153Clin. sub.
Autosomal recessive

Mandibuloacral dysplasia with type B lipodystrophy

ORPHA:90154Clin. sub.
Autosomal recessive

Mandibulofacial dysostosis with alopecia

ORPHA:443995Malform.
Autosomal dominant, Not applicable

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

ORPHA:357158Disease

Mandibulofacial dysostosis-microcephaly syndrome

ORPHA:79113Malform.
Autosomal dominant

Manganese poisoning

ORPHA:306682Disease

Mansonelliasis

ORPHA:2459Disease
Not applicable

Mantle cell lymphoma

ORPHA:52416Disease
Multigenic/multifactorial, Not applicable

Maple syrup urine disease

ORPHA:511Disease
Autosomal recessive

Marbach-Schaaf neurodevelopmental syndrome

ORPHA:692173Disease
Autosomal dominant

Marburg acute multiple sclerosis

ORPHA:228157Disease
Multigenic/multifactorial

Marburg hemorrhagic fever

ORPHA:99826Disease

Marchiafava-Bignami disease

ORPHA:221074Disease

Marcus-Gunn syndrome

ORPHA:91412Disease
Autosomal dominant

Marden-Walker syndrome

ORPHA:2461Malform.
Autosomal recessive

Marfan syndrome

ORPHA:558Disease
Autosomal dominant

Marfan syndrome type 1

ORPHA:284963Clin. sub.
Autosomal dominant

Marfan syndrome type 2

ORPHA:284973Clin. sub.
Autosomal dominant

Marfanoid habitus-autosomal recessive intellectual disability syndrome

ORPHA:2463Malform.
Autosomal recessive

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

ORPHA:643503Disease

Marfanoid habitus-inguinal hernia-advanced bone age syndrome

ORPHA:314041Malform.

Marfanoid syndrome, De Silva type

ORPHA:2464Malform.