MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Progressive familial intrahepatic cholestasis type 5

ORPHA:480476Kl. subt.
Autosomal recessive

Progressive hemifacial atrophy

ORPHA:1214Kr.
Not applicable

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

ORPHA:675782Kr.
Autosomal recessive

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

ORPHA:477814Malf.
Autosomal recessive

Progressive multifocal leukoencephalopathy

ORPHA:217260Kr.
Not applicable

Progressive muscular atrophy

ORPHA:454706Kr.
Not applicable

Progressive myoclonic epilepsy

ORPHA:98261Kl. gruppe

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 myoclonic epilepsy with neuroserpin inclusion bodies

ORPHA:530298Kl. subt.

Progressive nodular histiocytosis

ORPHA:158022Kr.
Not applicable

Progressive non-fluent aphasia

ORPHA:100070Kr.
Multigenic/multifactorial, Not applicable

Progressive non-infectious anterior vertebral fusion

ORPHA:2062Malf.
Not applicable

Progressive osseous heteroplasia

ORPHA:2762Malf.
Autosomal dominant

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