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"

7 matching diseasesClear search ×

BIDS syndrome

Amish brittle hair syndrome · Trichothiodystrophy type D

ORPHA:1245

Body integrity dysphoria

BID · BIID

ORPHA:623789

Catecholaminergic polymorphic ventricular tachycardia

Polymorphic ventricular tachycardia induced by catecholamines · CPVT

ORPHA:3286

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

ORPHA:453

PIBIDS syndrome

Trichothiodystrophy type F · Trichothiodystrophy-sun sensitivity syndrome

ORPHA:670

SIBIDS syndrome

Trichothiodystrophy-osteosclerosis syndrome

ORPHA:75789

X-linked intellectual disability, Abidi type

ORPHA:85273