MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
727 Erkrankungen gefunden (Kl. subt.) Zurücksetzen

Mild hemophilia A

ORPHA:169808Kl. subt.
X-linked recessive

Mild hemophilia B

ORPHA:169799Kl. subt.
X-linked recessive

Mild hyperphenylalaninemia

ORPHA:79651Kl. subt.
Autosomal recessive

Mild phosphoribosylpyrophosphate synthetase superactivity

ORPHA:411536Kl. subt.
X-linked recessive

Minimal pigment oculocutaneous albinism type 1

ORPHA:352734Kl. subt.
Autosomal recessive

Moderate hemophilia A

ORPHA:169805Kl. subt.
X-linked recessive

Moderate hemophilia B

ORPHA:169796Kl. subt.
X-linked recessive

Moderate multiminicore disease with hand involvement

ORPHA:178145Kl. subt.
Autosomal dominant

Monostotic fibrous dysplasia

ORPHA:93277Kl. subt.
Not applicable

Mu-heavy chain disease

ORPHA:100024Kl. subt.

Mucolipidosis type III alpha/beta

ORPHA:423461Kl. subt.
Autosomal recessive

Mucolipidosis type III gamma

ORPHA:423470Kl. subt.
Autosomal recessive

Mucopolysaccharidosis type 2, attenuated form

ORPHA:217093Kl. subt.
X-linked recessive

Mucopolysaccharidosis type 2, severe form

ORPHA:217085Kl. subt.
X-linked recessive

Mucopolysaccharidosis type 4A

ORPHA:309297Kl. subt.
Autosomal recessive

Mucopolysaccharidosis type 4B

ORPHA:309310Kl. subt.
Autosomal recessive

Mucopolysaccharidosis type 6, rapidly progressing

ORPHA:276212Kl. subt.
Autosomal recessive

Mucopolysaccharidosis type 6, slowly progressing

ORPHA:276223Kl. subt.
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency, mild type

ORPHA:394532Kl. subt.
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

ORPHA:394529Kl. subt.
Autosomal recessive

Multiple endocrine neoplasia type 2A

ORPHA:247698Kl. subt.
Autosomal dominant

Multiple endocrine neoplasia type 2B

ORPHA:247709Kl. subt.
Autosomal dominant

Multiple system atrophy, cerebellar type

ORPHA:227510Kl. subt.
Not applicable

Multiple system atrophy, parkinsonian type

ORPHA:98933Kl. subt.
Not applicable