MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
727 diseases matched (Clin. sub.) Reset

Mild hemophilia A

ORPHA:169808Clin. sub.
X-linked recessive

Mild hemophilia B

ORPHA:169799Clin. sub.
X-linked recessive

Mild hyperphenylalaninemia

ORPHA:79651Clin. sub.
Autosomal recessive

Mild phosphoribosylpyrophosphate synthetase superactivity

ORPHA:411536Clin. sub.
X-linked recessive

Minimal pigment oculocutaneous albinism type 1

ORPHA:352734Clin. sub.
Autosomal recessive

Moderate hemophilia A

ORPHA:169805Clin. sub.
X-linked recessive

Moderate hemophilia B

ORPHA:169796Clin. sub.
X-linked recessive

Moderate multiminicore disease with hand involvement

ORPHA:178145Clin. sub.
Autosomal dominant

Monostotic fibrous dysplasia

ORPHA:93277Clin. sub.
Not applicable

Mu-heavy chain disease

ORPHA:100024Clin. sub.

Mucolipidosis type III alpha/beta

ORPHA:423461Clin. sub.
Autosomal recessive

Mucolipidosis type III gamma

ORPHA:423470Clin. sub.
Autosomal recessive

Mucopolysaccharidosis type 2, attenuated form

ORPHA:217093Clin. sub.
X-linked recessive

Mucopolysaccharidosis type 2, severe form

ORPHA:217085Clin. sub.
X-linked recessive

Mucopolysaccharidosis type 4A

ORPHA:309297Clin. sub.
Autosomal recessive

Mucopolysaccharidosis type 4B

ORPHA:309310Clin. sub.
Autosomal recessive

Mucopolysaccharidosis type 6, rapidly progressing

ORPHA:276212Clin. sub.
Autosomal recessive

Mucopolysaccharidosis type 6, slowly progressing

ORPHA:276223Clin. sub.
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency, mild type

ORPHA:394532Clin. sub.
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

ORPHA:394529Clin. sub.
Autosomal recessive

Multiple endocrine neoplasia type 2A

ORPHA:247698Clin. sub.
Autosomal dominant

Multiple endocrine neoplasia type 2B

ORPHA:247709Clin. sub.
Autosomal dominant

Multiple system atrophy, cerebellar type

ORPHA:227510Clin. sub.
Not applicable

Multiple system atrophy, parkinsonian type

ORPHA:98933Clin. sub.
Not applicable