MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Mounier-Kühn syndrome

ORPHA:3347Clinical syndrome
Not applicable

Mowat-Wilson syndrome

ORPHA:2152Malf.
Autosomal dominant

Mowat-Wilson syndrome due to a ZEB2 point mutation

ORPHA:261552Ätl. subt.
Autosomal dominant

Mowat-Wilson syndrome due to monosomy 2q22

ORPHA:261537Ätl. subt.

Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

ORPHA:280679Kr.
X-linked recessive

Moyamoya disease

ORPHA:2573Kr.
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive

Moyamoya disease with early-onset achalasia

ORPHA:401945Kr.
Autosomal recessive

Mu-heavy chain disease

ORPHA:100024Kl. subt.

Mucinous adenocarcinoma of ovary

ORPHA:398961Kr.

Mucinous adenocarcinoma of the appendix

ORPHA:391723Kr.

Mucinous cystadenocarcinoma of the pancreas

ORPHA:424053Kr.
Not applicable

Mucinous cystadenoma of childhood

ORPHA:563671His. subt.

Mucinous tubular and spindle cell renal carcinoma

ORPHA:319322Kr.

Muckle-Wells syndrome

ORPHA:575Kr.
Autosomal dominant

Mucocutaneous venous malformations

ORPHA:2451Malf.
Autosomal dominant

Mucolipidosis type II

ORPHA:576Kr.
Autosomal recessive

Mucolipidosis type III

ORPHA:577Kr.
Autosomal recessive

Mucolipidosis type III alpha/beta

ORPHA:423461Kl. subt.
Autosomal recessive

Mucolipidosis type III gamma

ORPHA:423470Kl. subt.
Autosomal recessive

Mucolipidosis type IV

ORPHA:578Kr.
Autosomal recessive

Mucopolysaccharidosis

ORPHA:79213Kat.

Mucopolysaccharidosis type 1

ORPHA:579Kr.
Autosomal recessive

Mucopolysaccharidosis type 10

ORPHA:662216Kr.
Autosomal recessive

Mucopolysaccharidosis type 2

ORPHA:580Kr.
X-linked recessive