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"

5 matching diseasesClear search ×

Papillary intralymphatic angioendothelioma

PILA · Primary intralymphatic angioendothelioma

ORPHA:458768

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

Pilarowski-Bjornsson syndrome

ORPHA:529965

Keratosis pilaris atrophicans

ORPHA:498

Lichen planopilaris

Follicular lichen planus · LPP

ORPHA:525

Pityriasis rubra pilaris

ORPHA:2897