MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Mounier-Kühn syndrome

ORPHA:3347Clinical syndrome
Not applicable

Mowat-Wilson syndrome

ORPHA:2152Malform.
Autosomal dominant

Mowat-Wilson syndrome due to a ZEB2 point mutation

ORPHA:261552Etio. sub.
Autosomal dominant

Mowat-Wilson syndrome due to monosomy 2q22

ORPHA:261537Etio. sub.

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

ORPHA:280679Disease
X-linked recessive

Moyamoya disease

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

Moyamoya disease with early-onset achalasia

ORPHA:401945Disease
Autosomal recessive

Mu-heavy chain disease

ORPHA:100024Clin. sub.

Mucinous adenocarcinoma of ovary

ORPHA:398961Disease

Mucinous adenocarcinoma of the appendix

ORPHA:391723Disease

Mucinous cystadenocarcinoma of the pancreas

ORPHA:424053Disease
Not applicable

Mucinous cystadenoma of childhood

ORPHA:563671Hist. sub.

Mucinous tubular and spindle cell renal carcinoma

ORPHA:319322Disease

Muckle-Wells syndrome

ORPHA:575Disease
Autosomal dominant

Mucocutaneous venous malformations

ORPHA:2451Malform.
Autosomal dominant

Mucolipidosis type II

ORPHA:576Disease
Autosomal recessive

Mucolipidosis type III

ORPHA:577Disease
Autosomal recessive

Mucolipidosis type III alpha/beta

ORPHA:423461Clin. sub.
Autosomal recessive

Mucolipidosis type III gamma

ORPHA:423470Clin. sub.
Autosomal recessive

Mucolipidosis type IV

ORPHA:578Disease
Autosomal recessive

Mucopolysaccharidosis

ORPHA:79213Cat.

Mucopolysaccharidosis type 1

ORPHA:579Disease
Autosomal recessive

Mucopolysaccharidosis type 10

ORPHA:662216Disease
Autosomal recessive

Mucopolysaccharidosis type 2

ORPHA:580Disease
X-linked recessive