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

Mucopolysaccharidosis type 10

ORPHA:662216Kr.
Autosomal recessive

Mucopolysaccharidosis type 2

ORPHA:580Kr.
X-linked recessive

Mucopolysaccharidosis type 3

ORPHA:581Kr.
Autosomal recessive

Mucopolysaccharidosis type 4

ORPHA:582Kr.
Autosomal recessive

Mucopolysaccharidosis type 6

ORPHA:583Kr.
Autosomal recessive

Mucopolysaccharidosis type 7

ORPHA:584Kr.
Autosomal recessive

Mucous membrane pemphigoid

ORPHA:46486Kr.
Not applicable

Mueller-Weiss syndrome

ORPHA:566943Kr.

Multicentric osteolysis-nodulosis-arthropathy spectrum

ORPHA:371428Kr.
Autosomal recessive

Multicentric reticulohistiocytosis

ORPHA:139436Kr.
Not applicable

Multifocal atrial tachycardia

ORPHA:3282Kr.
Not applicable

Multifocal infantile hemangioma with extracutenous involvement

ORPHA:2123Kr.
Not applicable

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

ORPHA:464321Kr.
Not applicable

Multifocal motor neuropathy

ORPHA:641Kr.
Unknown

Multifocal pattern dystrophy simulating fundus flavimaculatus

ORPHA:99003Kr.
Autosomal dominant

Multiminicore myopathy

ORPHA:598Kr.
Autosomal dominant, Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency

ORPHA:26791Kr.
Autosomal recessive

Multiple benign circumferential skin creases on limbs

ORPHA:2505Kr.
Autosomal dominant, Autosomal recessive

Multiple endocrine neoplasia type 1

ORPHA:652Kr.
Autosomal dominant, Not applicable

Multiple endocrine neoplasia type 2

ORPHA:653Kr.
Autosomal dominant

Multiple endocrine neoplasia type 4

ORPHA:276152Kr.
Autosomal dominant, Not applicable

Multiple epiphyseal dysplasia due to collagen 9 anomaly

ORPHA:166002Kr.
Autosomal dominant

Multiple epiphyseal dysplasia type 1

ORPHA:93308Kr.
Autosomal dominant

Multiple epiphyseal dysplasia type 4

ORPHA:93307Kr.
Autosomal recessive