MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

ORPHA:319547Disease
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

ORPHA:319558Disease
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

ORPHA:319552Disease
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

ORPHA:319563Disease
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

ORPHA:477857Disease
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

ORPHA:319600Disease
Autosomal dominant

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

Menke-Hennekam syndrome

ORPHA:592574Malform.
Autosomal dominant

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

Mesoaxial synostotic syndactyly with phalangeal reduction

ORPHA:157801Morph.
Autosomal recessive

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

Mesomelic dysplasia, Nievergelt type

ORPHA:2633Malform.
Autosomal dominant

Mesomelic dysplasia, Savarirayan type

ORPHA:85170Malform.
Not applicable

Mesomelic dysplasia-digital anomalies-intellectual disability syndrome

ORPHA:632603Malform.

Mesothelioma of the tunica vaginalis

ORPHA:685010Disease