MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Progressive familial intrahepatic cholestasis type 5

ORPHA:480476Clin. sub.
Autosomal recessive

Progressive hemifacial atrophy

ORPHA:1214Disease
Not applicable

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

ORPHA:675782Disease
Autosomal recessive

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

ORPHA:477814Malform.
Autosomal recessive

Progressive multifocal leukoencephalopathy

ORPHA:217260Disease
Not applicable

Progressive muscular atrophy

ORPHA:454706Disease
Not applicable

Progressive myoclonic epilepsy

ORPHA:98261Clin. grp.

Progressive myoclonic epilepsy type 1

ORPHA:308Disease
Autosomal recessive

Progressive myoclonic epilepsy type 3

ORPHA:263516Disease
Autosomal recessive

Progressive myoclonic epilepsy type 5

ORPHA:402082Disease
Autosomal dominant

Progressive myoclonic epilepsy type 6

ORPHA:280620Disease
Autosomal recessive

Progressive myoclonic epilepsy type 7

ORPHA:435438Disease
Autosomal dominant

Progressive myoclonic epilepsy type 8

ORPHA:424027Disease
Autosomal recessive

Progressive myoclonic epilepsy type 9

ORPHA:457265Disease
Autosomal recessive

Progressive myoclonic epilepsy with dystonia

ORPHA:352596Disease
Autosomal recessive

Progressive myoclonic epilepsy with neuroserpin inclusion bodies

ORPHA:530298Clin. sub.

Progressive nodular histiocytosis

ORPHA:158022Disease
Not applicable

Progressive non-fluent aphasia

ORPHA:100070Disease
Multigenic/multifactorial, Not applicable

Progressive non-infectious anterior vertebral fusion

ORPHA:2062Malform.
Not applicable

Progressive osseous heteroplasia

ORPHA:2762Malform.
Autosomal dominant

Progressive polyneuropathy with bilateral striatal necrosis

ORPHA:217396Disease
Autosomal recessive

Progressive pseudorheumatoid dysplasia

ORPHA:1159Disease
Autosomal recessive

Progressive retinal dystrophy due to retinol transport defect

ORPHA:352718Disease
Autosomal recessive

Progressive scapulohumeroperoneal distal myopathy

ORPHA:447977Disease
Autosomal dominant