MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Matthew-Wood syndrome

ORPHA:2470Malform.
Autosomal dominant, Autosomal recessive

Maxillonasal dysplasia

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

Mayer-Rokitansky-Küster-Hauser syndrome

ORPHA:3109Malform.
Autosomal dominant, Not applicable

Mazabraud syndrome

ORPHA:57782Malform.
Not applicable

McDonough syndrome

ORPHA:2471Malform.

McKusick-Kaufman syndrome

ORPHA:2473Malform.
Autosomal recessive

Meacham syndrome

ORPHA:3097Malform.
Autosomal dominant

Meckel syndrome

ORPHA:564Malform.
Autosomal recessive

Median nodule of the upper lip

ORPHA:2699Malform.
Autosomal dominant

Megacystis-microcolon-intestinal hypoperistalsis syndrome

ORPHA:2241Malform.
Autosomal dominant, Autosomal recessive

Megalencephaly-capillary malformation-polymicrogyria syndrome

ORPHA:60040Malform.
Not applicable

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

ORPHA:83473Malform.
Autosomal dominant, Not applicable

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

ORPHA:457359Malform.
Autosomal recessive

Megalocornea-intellectual disability syndrome

ORPHA:2479Malform.

Melhem-Fahl syndrome

ORPHA:2482Malform.

Melkersson-Rosenthal syndrome

ORPHA:2483Malform.

Melnick-Needles syndrome

ORPHA:2484Malform.
X-linked dominant

Melorheostosis

ORPHA:2485Malform.
Not applicable

Melorheostosis with osteopoikilosis

ORPHA:1879Malform.
Autosomal dominant

Menke-Hennekam syndrome

ORPHA:592574Malform.
Autosomal dominant

Mesomelia-synostoses syndrome

ORPHA:2496Malform.
Autosomal dominant

Mesomelic dwarfism, Reinhardt-Pfeiffer type

ORPHA:2634Malform.
Autosomal dominant

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

ORPHA:2631Malform.
Autosomal recessive

Mesomelic dysplasia, Kantaputra type

ORPHA:1836Malform.
Autosomal dominant