MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Matthew-Wood syndrome

ORPHA:2470Malf.
Autosomal dominant, Autosomal recessive

Maxillonasal dysplasia

ORPHA:1248Malf.
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial

Mayer-Rokitansky-Küster-Hauser syndrome

ORPHA:3109Malf.
Autosomal dominant, Not applicable

Mazabraud syndrome

ORPHA:57782Malf.
Not applicable

McDonough syndrome

ORPHA:2471Malf.

McKusick-Kaufman syndrome

ORPHA:2473Malf.
Autosomal recessive

Meacham syndrome

ORPHA:3097Malf.
Autosomal dominant

Meckel syndrome

ORPHA:564Malf.
Autosomal recessive

Median nodule of the upper lip

ORPHA:2699Malf.
Autosomal dominant

Megacystis-microcolon-intestinal hypoperistalsis syndrome

ORPHA:2241Malf.
Autosomal dominant, Autosomal recessive

Megalencephaly-capillary malformation-polymicrogyria syndrome

ORPHA:60040Malf.
Not applicable

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

ORPHA:83473Malf.
Autosomal dominant, Not applicable

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

ORPHA:457359Malf.
Autosomal recessive

Megalocornea-intellectual disability syndrome

ORPHA:2479Malf.

Melhem-Fahl syndrome

ORPHA:2482Malf.

Melkersson-Rosenthal syndrome

ORPHA:2483Malf.

Melnick-Needles syndrome

ORPHA:2484Malf.
X-linked dominant

Melorheostosis

ORPHA:2485Malf.
Not applicable

Melorheostosis with osteopoikilosis

ORPHA:1879Malf.
Autosomal dominant

Menke-Hennekam syndrome

ORPHA:592574Malf.
Autosomal dominant

Mesomelia-synostoses syndrome

ORPHA:2496Malf.
Autosomal dominant

Mesomelic dwarfism, Reinhardt-Pfeiffer type

ORPHA:2634Malf.
Autosomal dominant

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

ORPHA:2631Malf.
Autosomal recessive

Mesomelic dysplasia, Kantaputra type

ORPHA:1836Malf.
Autosomal dominant