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"

13 matching diseasesClear search ×

Werner syndrome

Adult progeria · WS

ORPHA:902

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

Neurologic Waardenburg-Shah syndrome · PCWH

ORPHA:163746

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

Waardenburg-Shah syndrome

Shah-Waardenburg syndrome · WS4

ORPHA:897

Wrinkly skin syndrome

WSS · Wrinkled skin syndrome

ORPHA:2834

Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

Kozlowski-Tsuruta syndrome

ORPHA:2204

Kozlowski-Brown-Hardwick syndrome

ORPHA:2352

Lenz-Majewski hyperostotic dysplasia

Lenz-Majewski syndrome · Lenz-Majewski hyperostotic dwarfism

ORPHA:2658

Short rib-polydactyly syndrome, Majewski type

Short rib-polydactyly syndrome type 2

ORPHA:93269

Spondylometaphyseal dysplasia, Kozlowski type

ORPHA:93314

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899