MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Muscle-eye-brain disease with bilateral multicystic leucodystrophy

ORPHA:370997Kr.
Autosomal recessive

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

ORPHA:2579Kr.
Autosomal dominant

Muscular pseudohypertrophy-hypothyroidism syndrome

ORPHA:2349Kr.

Musculocontractural Ehlers-Danlos syndrome

ORPHA:2953Kr.
Autosomal recessive

Mutilating hereditary sensory neuropathy with spastic paraplegia

ORPHA:139578Kr.
Autosomal recessive

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

ORPHA:659Kr.
Autosomal dominant, Not applicable, X-linked recessive

Myasthenia gravis

ORPHA:589Kr.
Multigenic/multifactorial, Not applicable

Mycetoma

ORPHA:2583Kr.
Not applicable

Mycoplasma encephalitis

ORPHA:83482Kr.
Not applicable

Myelodysplastic neoplasm with increased blasts

ORPHA:86839Kr.
Not applicable

Myelodysplastic neoplasm with low blasts

ORPHA:98826Kr.
Not applicable

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

ORPHA:86841Kr.
Not applicable

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

Myoclonic epilepsy of infancy

ORPHA:86909Kr.
Autosomal recessive

Myoclonus-dystonia syndrome

ORPHA:36899Kr.
Autosomal dominant, Not applicable

Myopathic Ehlers-Danlos syndrome

ORPHA:536516Kr.
Autosomal dominant, Autosomal recessive

Myopathy and diabetes mellitus

ORPHA:2596Kr.
Mitochondrial inheritance

Myosclerosis

ORPHA:289380Kr.
Autosomal recessive

Myosin storage myopathy

ORPHA:53698Kr.
Autosomal dominant, Autosomal recessive