MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Mandibuloacral dysplasia

ORPHA:2457Malf.
Autosomal recessive

Mandibuloacral dysplasia associated to MTX2

ORPHA:647667Malf.
Autosomal recessive

Mandibuloacral dysplasia with type A lipodystrophy

ORPHA:90153Kl. subt.
Autosomal recessive

Mandibuloacral dysplasia with type B lipodystrophy

ORPHA:90154Kl. subt.
Autosomal recessive

Mandibulofacial dysostosis with alopecia

ORPHA:443995Malf.
Autosomal dominant, Not applicable

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

ORPHA:357158Kr.

Mandibulofacial dysostosis-microcephaly syndrome

ORPHA:79113Malf.
Autosomal dominant

Manganese poisoning

ORPHA:306682Kr.

Mansonelliasis

ORPHA:2459Kr.
Not applicable

Mantle cell lymphoma

ORPHA:52416Kr.
Multigenic/multifactorial, Not applicable

Maple syrup urine disease

ORPHA:511Kr.
Autosomal recessive

Marbach-Schaaf neurodevelopmental syndrome

ORPHA:692173Kr.
Autosomal dominant

Marburg acute multiple sclerosis

ORPHA:228157Kr.
Multigenic/multifactorial

Marburg hemorrhagic fever

ORPHA:99826Kr.

Marchiafava-Bignami disease

ORPHA:221074Kr.

Marcus-Gunn syndrome

ORPHA:91412Kr.
Autosomal dominant

Marden-Walker syndrome

ORPHA:2461Malf.
Autosomal recessive

Marfan syndrome

ORPHA:558Kr.
Autosomal dominant

Marfan syndrome type 1

ORPHA:284963Kl. subt.
Autosomal dominant

Marfan syndrome type 2

ORPHA:284973Kl. subt.
Autosomal dominant

Marfanoid habitus-autosomal recessive intellectual disability syndrome

ORPHA:2463Malf.
Autosomal recessive

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

ORPHA:643503Kr.

Marfanoid habitus-inguinal hernia-advanced bone age syndrome

ORPHA:314041Malf.

Marfanoid syndrome, De Silva type

ORPHA:2464Malf.