MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Matthew-Wood syndrome

ORPHA:2470Malform.
Autosomal dominant, Autosomal recessive

Maxillonasal dysplasia

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

May-Thurner syndrome

ORPHA:675404Disease
Not applicable

Mayer-Rokitansky-Küster-Hauser syndrome

ORPHA:3109Malform.
Autosomal dominant, Not applicable

Mayer-Rokitansky-Küster-Hauser syndrome type 1

ORPHA:247775Clin. sub.
Autosomal dominant, Not applicable

Mayer-Rokitansky-Küster-Hauser syndrome type 2

ORPHA:2578Clin. sub.
Autosomal dominant, Not applicable

Mazabraud syndrome

ORPHA:57782Malform.
Not applicable

McCune-Albright syndrome

ORPHA:562Disease
Not applicable

McDonough syndrome

ORPHA:2471Malform.

McKusick-Kaufman syndrome

ORPHA:2473Malform.
Autosomal recessive

McLeod neuroacanthocytosis syndrome

ORPHA:59306Disease
X-linked recessive

Meacham syndrome

ORPHA:3097Malform.
Autosomal dominant

Meckel syndrome

ORPHA:564Malform.
Autosomal recessive

Meconium aspiration syndrome

ORPHA:70588Disease
Not applicable

Medial condensing osteitis of the clavicle

ORPHA:57196Disease
Not applicable

Median cleft lip/mandible

ORPHA:2006Morph.
Not applicable

Median facial cleft

ORPHA:141234Clin. grp.

Median nodule of the upper lip

ORPHA:2699Malform.
Autosomal dominant

Mediastinal arteriovenous malformation

ORPHA:714709Morph.
Not applicable

Medich giant platelet syndrome

ORPHA:370127Disease

Medium chain acyl-CoA dehydrogenase deficiency

ORPHA:42Disease
Autosomal recessive

Medullary sponge kidney

ORPHA:1309Morph.
Autosomal dominant, Not applicable

Medullary thyroid carcinoma

ORPHA:1332Disease
Not applicable

Medulloblastoma

ORPHA:616Disease
Not applicable