MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Medulloblastoma with extensive nodularity

ORPHA:251858His. subt.
Not applicable

Meesmann corneal dystrophy

ORPHA:98954Kr.
Autosomal dominant

Megaconial congenital muscular dystrophy

ORPHA:280671Kr.
Autosomal recessive

Megacystis-megaureter syndrome

ORPHA:238637Kr.

Megacystis-microcolon-intestinal hypoperistalsis syndrome

ORPHA:2241Malf.
Autosomal dominant, Autosomal recessive

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

ORPHA:402023Kr.

Megalencephalic leukoencephalopathy with subcortical cysts

ORPHA:2478Kr.
Autosomal dominant, Autosomal recessive

Megalencephaly-capillary malformation-polymicrogyria syndrome

ORPHA:60040Malf.
Not applicable

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

ORPHA:83473Malf.
Autosomal dominant, Not applicable

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

ORPHA:457359Malf.
Autosomal recessive

Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency

ORPHA:661412Kr.

Megalocornea-intellectual disability syndrome

ORPHA:2479Malf.

Meige disease

ORPHA:90186Kr.
Not applicable

Meigs syndrome

ORPHA:314451Clinical syndrome
Not applicable

Melanoma and neural system tumor syndrome

ORPHA:252206Kr.
Autosomal dominant, Unknown

Melanoma of soft tissue

ORPHA:97338Kr.
Not applicable

Melhem-Fahl syndrome

ORPHA:2482Malf.

Melioidosis

ORPHA:31202Kr.

Melkersson-Rosenthal syndrome

ORPHA:2483Malf.

Melnick-Needles syndrome

ORPHA:2484Malf.
X-linked dominant

Melorheostosis

ORPHA:2485Malf.
Not applicable

Melorheostosis with osteopoikilosis

ORPHA:1879Malf.
Autosomal dominant

Mendelian susceptibility to mycobacterial diseases

ORPHA:748Kl. gruppe
Autosomal dominant, Autosomal recessive, X-linked recessive

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

ORPHA:99898Kr.
Autosomal recessive