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 ×

Rare genetic disorder of the posterior segment of the eye

ORPHA:522570

Rare genetic disorder of the pupil

ORPHA:522568

Rare genetic disorder of the visual organs

ORPHA:522504

Rare genetic disorder with conjunctival involvement as a major feature

ORPHA:522542

Rare genetic disorder with corneal involvement as a major feature

ORPHA:522558

Rare genetic disorder with entropion

ORPHA:522530

Rare genetic disorder with lens opacification

ORPHA:522546

Rare genetic disorder with obstructive azoospermia

Rare genetic disorder due to impaired sperm transport

ORPHA:400003