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"

105 matching diseasesClear search ×

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

Waardenburg syndrome

ORPHA:3440

Waardenburg-Shah syndrome

Shah-Waardenburg syndrome · WS4

ORPHA:897

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