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

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

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.

Mesothelioma of the tunica vaginalis

ORPHA:685010Kr.

Metabolic myopathy due to lactate transporter defect

ORPHA:171690Kr.
Autosomal dominant

Metachromatic leukodystrophy

ORPHA:512Kr.
Autosomal recessive

Metaphyseal anadysplasia

ORPHA:1040Kr.
Autosomal dominant, Autosomal recessive

Metaphyseal chondrodysplasia, Jansen type

ORPHA:33067Kr.
Autosomal dominant

Metaphyseal chondrodysplasia, Kaitila type

ORPHA:166038Kr.

Metaphyseal chondrodysplasia, Rosenberg type

ORPHA:1837Kr.

Metaphyseal chondrodysplasia, Schmid type

ORPHA:174Kr.
Autosomal dominant

Metaphyseal chondrodysplasia, Spahr type

ORPHA:2501Kr.
Autosomal recessive

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

ORPHA:99646Kr.
Not applicable

Metaplastic carcinoma of the breast

ORPHA:213531Kr.

Metatropic dysplasia

ORPHA:2635Kr.
Autosomal dominant, Not applicable

Methanol poisoning

ORPHA:31825Kr.
Not applicable

Methionine adenosyltransferase I/III deficiency

ORPHA:168598Kr.
Autosomal recessive

Methotrexate toxicity

ORPHA:565782Kr.
Not applicable

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

ORPHA:308425Kr.
Autosomal recessive