MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Malignant teratoma of ovary

ORPHA:398987Disease
Unknown

Malignant tumor of fallopian tubes

ORPHA:180242Disease
Not applicable

Malonic aciduria

ORPHA:943Disease
Autosomal recessive

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

ORPHA:363649Disease
Autosomal dominant

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

ORPHA:357158Disease

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

Marfan syndrome

ORPHA:558Disease
Autosomal dominant

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

ORPHA:643503Disease

Marie Unna hereditary hypotrichosis

ORPHA:444Disease
Autosomal dominant

Marinesco-Sjögren syndrome

ORPHA:559Disease
Autosomal recessive

Martinique crinkled retinal pigment epitheliopathy

ORPHA:466718Disease
Autosomal dominant

Mast cell leukemia

ORPHA:98851Disease
Not applicable

Mast cell sarcoma

ORPHA:66661Disease

Maternal riboflavin deficiency

ORPHA:411712Disease
Autosomal dominant

May-Thurner syndrome

ORPHA:675404Disease
Not applicable

McCune-Albright syndrome

ORPHA:562Disease
Not applicable