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"

4 matching diseasesClear search ×

Pollitt syndrome

Trichorrhexis nodosa syndrome · Trichothiodystrophy type C

ORPHA:75790

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

ORPHA:2970

Trichodental syndrome

Kersey syndrome

ORPHA:3351

Trichorhinophalangeal syndrome

ORPHA:324764