MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Moebius syndrome

ORPHA:570Disease
Autosomal dominant

Mohr-Tranebjaerg syndrome

ORPHA:52368Disease
X-linked recessive

Monilethrix

ORPHA:573Disease
Autosomal dominant, Autosomal recessive

Monoamine oxidase A deficiency

ORPHA:3057Disease
X-linked recessive

Monoclonal mast cell activation syndrome

ORPHA:529468Disease

Monomelic amyotrophy

ORPHA:65684Disease
Unknown

Monosomy 18p syndrome

ORPHA:1598Disease
Autosomal dominant

Morvan syndrome

ORPHA:83467Disease

Mosaic NF2-related schwannomatosis

ORPHA:634475Disease

Mosaic neurofibromatosis type 1

ORPHA:634461Disease

Mosaic schwannomatosis

ORPHA:634492Disease

Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome

ORPHA:715623Disease
Autosomal recessive

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

Mucinous adenocarcinoma of ovary

ORPHA:398961Disease

Mucinous adenocarcinoma of the appendix

ORPHA:391723Disease

Mucinous cystadenocarcinoma of the pancreas

ORPHA:424053Disease
Not applicable

Mucinous tubular and spindle cell renal carcinoma

ORPHA:319322Disease

Muckle-Wells syndrome

ORPHA:575Disease
Autosomal dominant

Mucolipidosis type II

ORPHA:576Disease
Autosomal recessive

Mucolipidosis type III

ORPHA:577Disease
Autosomal recessive

Mucolipidosis type IV

ORPHA:578Disease
Autosomal recessive

Mucopolysaccharidosis type 1

ORPHA:579Disease
Autosomal recessive