MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

McLeod neuroacanthocytosis syndrome

ORPHA:59306Kr.
X-linked recessive

Meconium aspiration syndrome

ORPHA:70588Kr.
Not applicable

Medial condensing osteitis of the clavicle

ORPHA:57196Kr.
Not applicable

Medich giant platelet syndrome

ORPHA:370127Kr.

Medium chain acyl-CoA dehydrogenase deficiency

ORPHA:42Kr.
Autosomal recessive

Medullary thyroid carcinoma

ORPHA:1332Kr.
Not applicable

Medulloblastoma

ORPHA:616Kr.
Not applicable

Meesmann corneal dystrophy

ORPHA:98954Kr.
Autosomal dominant

Megaconial congenital muscular dystrophy

ORPHA:280671Kr.
Autosomal recessive

Megacystis-megaureter syndrome

ORPHA:238637Kr.

Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

ORPHA:402023Kr.

Megalencephalic leukoencephalopathy with subcortical cysts

ORPHA:2478Kr.
Autosomal dominant, Autosomal recessive

Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency

ORPHA:661412Kr.

Meige disease

ORPHA:90186Kr.
Not applicable

Melanoma and neural system tumor syndrome

ORPHA:252206Kr.
Autosomal dominant, Unknown

Melanoma of soft tissue

ORPHA:97338Kr.
Not applicable

Melioidosis

ORPHA:31202Kr.

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

ORPHA:99898Kr.
Autosomal recessive

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