MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

ORPHA:319547Kr.
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

ORPHA:319558Kr.
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

ORPHA:319552Kr.
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

ORPHA:319563Kr.
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

ORPHA:477857Kr.
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

ORPHA:319600Kr.
Autosomal dominant

Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency

ORPHA:574957Kr.
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

ORPHA:319595Kr.
Autosomal dominant

Meningioma

ORPHA:2495Kr.
Not applicable

Meningococcal meningitis

ORPHA:33475Kr.
Not applicable

Menke-Hennekam syndrome

ORPHA:592574Malf.
Autosomal dominant

Menkes disease

ORPHA:565Kr.
X-linked recessive

Menstrual cycle-dependent periodic fever

ORPHA:498251Kr.

Mercury poisoning

ORPHA:330021Kr.
Not applicable

Mesial temporal lobe epilepsy with hippocampal sclerosis

ORPHA:99701Kr.

Mesoaxial synostotic syndactyly with phalangeal reduction

ORPHA:157801Morph.
Autosomal recessive

Mesomelia-synostoses syndrome

ORPHA:2496Malf.
Autosomal dominant

Mesomelic dwarfism, Reinhardt-Pfeiffer type

ORPHA:2634Malf.
Autosomal dominant

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

ORPHA:2631Malf.
Autosomal recessive

Mesomelic dysplasia, Kantaputra type

ORPHA:1836Malf.
Autosomal dominant

Mesomelic dysplasia, Nievergelt type

ORPHA:2633Malf.
Autosomal dominant

Mesomelic dysplasia, Savarirayan type

ORPHA:85170Malf.
Not applicable

Mesomelic dysplasia-digital anomalies-intellectual disability syndrome

ORPHA:632603Malf.

Mesothelioma of the tunica vaginalis

ORPHA:685010Kr.