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