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

Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency

ORPHA:574957Disease
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

ORPHA:319595Disease
Autosomal dominant

Meningioma

ORPHA:2495Disease
Not applicable

Meningococcal meningitis

ORPHA:33475Disease
Not applicable

Menkes disease

ORPHA:565Disease
X-linked recessive

Menstrual cycle-dependent periodic fever

ORPHA:498251Disease

Mercury poisoning

ORPHA:330021Disease
Not applicable

Mesial temporal lobe epilepsy with hippocampal sclerosis

ORPHA:99701Disease

Mesothelioma of the tunica vaginalis

ORPHA:685010Disease

Metabolic myopathy due to lactate transporter defect

ORPHA:171690Disease
Autosomal dominant

Metachromatic leukodystrophy

ORPHA:512Disease
Autosomal recessive

Metaphyseal anadysplasia

ORPHA:1040Disease
Autosomal dominant, Autosomal recessive

Metaphyseal chondrodysplasia, Jansen type

ORPHA:33067Disease
Autosomal dominant

Metaphyseal chondrodysplasia, Kaitila type

ORPHA:166038Disease

Metaphyseal chondrodysplasia, Rosenberg type

ORPHA:1837Disease

Metaphyseal chondrodysplasia, Schmid type

ORPHA:174Disease
Autosomal dominant

Metaphyseal chondrodysplasia, Spahr type

ORPHA:2501Disease
Autosomal recessive

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

ORPHA:99646Disease
Not applicable

Metaplastic carcinoma of the breast

ORPHA:213531Disease

Metatropic dysplasia

ORPHA:2635Disease
Autosomal dominant, Not applicable

Methanol poisoning

ORPHA:31825Disease
Not applicable

Methionine adenosyltransferase I/III deficiency

ORPHA:168598Disease
Autosomal recessive

Methotrexate toxicity

ORPHA:565782Disease
Not applicable

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

ORPHA:308425Disease
Autosomal recessive