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

Progressive hemifacial atrophy

ORPHA:1214Kr.
Not applicable

Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN

ORPHA:675782Kr.
Autosomal recessive

Progressive multifocal leukoencephalopathy

ORPHA:217260Kr.
Not applicable

Progressive muscular atrophy

ORPHA:454706Kr.
Not applicable

Progressive myoclonic epilepsy type 1

ORPHA:308Kr.
Autosomal recessive

Progressive myoclonic epilepsy type 3

ORPHA:263516Kr.
Autosomal recessive

Progressive myoclonic epilepsy type 5

ORPHA:402082Kr.
Autosomal dominant

Progressive myoclonic epilepsy type 6

ORPHA:280620Kr.
Autosomal recessive

Progressive myoclonic epilepsy type 7

ORPHA:435438Kr.
Autosomal dominant

Progressive myoclonic epilepsy type 8

ORPHA:424027Kr.
Autosomal recessive

Progressive myoclonic epilepsy type 9

ORPHA:457265Kr.
Autosomal recessive

Progressive myoclonic epilepsy with dystonia

ORPHA:352596Kr.
Autosomal recessive

Progressive nodular histiocytosis

ORPHA:158022Kr.
Not applicable

Progressive non-fluent aphasia

ORPHA:100070Kr.
Multigenic/multifactorial, Not applicable

Progressive polyneuropathy with bilateral striatal necrosis

ORPHA:217396Kr.
Autosomal recessive

Progressive pseudorheumatoid dysplasia

ORPHA:1159Kr.
Autosomal recessive

Progressive retinal dystrophy due to retinol transport defect

ORPHA:352718Kr.
Autosomal recessive

Progressive scapulohumeroperoneal distal myopathy

ORPHA:447977Kr.
Autosomal dominant

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

ORPHA:228012Kr.
Autosomal dominant

Progressive supranuclear palsy

ORPHA:683Kr.
Not applicable

Progressive symmetric erythrokeratodermia

ORPHA:316Kr.
Autosomal dominant

Prolactinoma

ORPHA:2965Kr.
Autosomal dominant

Prolidase deficiency

ORPHA:742Kr.
Autosomal recessive

Proliferating trichilemmal cyst

ORPHA:492Kr.