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"

9 matching diseasesClear search ×

Craniosynostosis, Boston type

Craniosynostosis, Warman type · Warman-Mulliken-Hayward syndrome

ORPHA:1541

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

ORPHA:2379

Juberg-Hayward syndrome

Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome

ORPHA:2319

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

ORPHA:2752

Romano-Ward syndrome

Romano-Ward long QT syndrome

ORPHA:101016

Sugarman brachydactyly

Sugarman-Hager-Kulik syndrome

ORPHA:498602

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

ORPHA:3246

Van den Ende-Gupta syndrome

Marden-Walker-like syndrome · VDEGS

ORPHA:2460

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899