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"

12 matching diseasesClear search ×

Genetic dermis disorder

ORPHA:183472

Genetic epidermal disorder

ORPHA:183426

Genetic mixed dermis disorder

ORPHA:183481

Genetic skin vascular disorder

ORPHA:183478

Other genetic dermis disorder

ORPHA:477808

Rare genetic corneal disorder

ORPHA:522556

Rare genetic dystonia

Rare genetic dystonic disorder

ORPHA:391799

Rare genetic macular disorder

ORPHA:522574

Rare genetic movement disorder

ORPHA:183521

Rare genetic retinal disorder

ORPHA:522572

Rare genetic tremor disorder

ORPHA:307061

Unclassified genetic skin disorder

ORPHA:79385