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"

109 matching diseasesClear search ×

TMEM165-CDG

Carbohydrate deficient glycoprotein syndrome type IIk · Congenital disorder of glycosylation type 2k

ORPHA:314667

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp

ORPHA:466703

Usher syndrome type 1

USH1

ORPHA:231169

Usher syndrome type 2

USH2

ORPHA:231178

Usher syndrome type 3

USH3

ORPHA:231183

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4

ORPHA:286

Waardenburg syndrome

ORPHA:3440

Waardenburg syndrome type 1

WS1 · Waardenburg syndrome type I

ORPHA:894

Waardenburg syndrome type 2

WS2 · Waardenburg syndrome type II

ORPHA:895

Waardenburg syndrome type 3

Klein-Waardenburg syndrome · WS3

ORPHA:896

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

ORPHA:101088