Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

200 matching diseasesClear search ×

Florid cemento-osseous dysplasia

Florid osseous dysplasia · Focal cemento-osseous dysplasia

ORPHA:83451

Focal, segmental or multifocal dystonia

ORPHA:1866

Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome

FHONDA syndrome

ORPHA:397618

Frontotemporal dementia

FTD

ORPHA:282

Frontotemporal dementia with motor neuron disease

FTD-ALS · FTD-MND

ORPHA:275872

Frontotemporal dementia, right temporal atrophy variant

RTLA · rvFTD

ORPHA:293848

Frontotemporal neurodegeneration with movement disorder

ORPHA:306708

Genetic 46,XX difference of sex development

Genetic 46,XX DSD · Genetic 46,XX disorder of sex development

ORPHA:325697