MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Myelodysplastic syndrome

ORPHA:52688Kl. gruppe

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

ORPHA:86841Kr.
Not applicable

Myelodysplastic/myeloproliferative disease

ORPHA:98275Kl. gruppe

Myeloid sarcoma

ORPHA:86850Kr.
Not applicable

Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement

ORPHA:168953Kr.

Myeloid/lymphoid neoplasm associated with JAK2 rearrangement

ORPHA:589542Kr.

Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement

ORPHA:168947Kr.

Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement

ORPHA:168950Kr.

Myeloperoxidase deficiency

ORPHA:2587Kr.
Autosomal recessive

Myeloproliferative neoplasm

ORPHA:98274Kl. gruppe

Myhre syndrome

ORPHA:2588Malf.
Autosomal dominant

Myoclonic epilepsy in non-progressive encephalopathies

ORPHA:86913Malf.

Myoclonic epilepsy of infancy

ORPHA:86909Kr.
Autosomal recessive

Myoclonus-cerebellar ataxia-deafness syndrome

ORPHA:2589Malf.
Autosomal dominant

Myoclonus-dystonia syndrome

ORPHA:36899Kr.
Autosomal dominant, Not applicable

Myofibrillar myopathy

ORPHA:593Kat.
Autosomal dominant, Autosomal recessive

Myopathic Ehlers-Danlos syndrome

ORPHA:536516Kr.
Autosomal dominant, Autosomal recessive

Myopathic intestinal pseudoobstruction

ORPHA:104077Ätl. subt.
Unknown

Myopathy and diabetes mellitus

ORPHA:2596Kr.
Mitochondrial inheritance

Myosclerosis

ORPHA:289380Kr.
Autosomal recessive

Myosin storage myopathy

ORPHA:53698Kr.
Autosomal dominant, Autosomal recessive

Myospherulosis

ORPHA:306553Kr.
Not applicable

Myotonia fluctuans

ORPHA:99734Kr.
Autosomal dominant

Myotonia permanens

ORPHA:99735Kr.
Autosomal dominant