MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Progressive hemifacial atrophy

ORPHA:1214Disease
Not applicable

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

ORPHA:675782Disease
Autosomal recessive

Progressive multifocal leukoencephalopathy

ORPHA:217260Disease
Not applicable

Progressive muscular atrophy

ORPHA:454706Disease
Not applicable

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 nodular histiocytosis

ORPHA:158022Disease
Not applicable

Progressive non-fluent aphasia

ORPHA:100070Disease
Multigenic/multifactorial, Not applicable

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

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

ORPHA:228012Disease
Autosomal dominant

Progressive supranuclear palsy

ORPHA:683Disease
Not applicable

Progressive symmetric erythrokeratodermia

ORPHA:316Disease
Autosomal dominant

Prolactinoma

ORPHA:2965Disease
Autosomal dominant

Prolidase deficiency

ORPHA:742Disease
Autosomal recessive

Proliferating trichilemmal cyst

ORPHA:492Disease