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"

11 matching diseasesClear search ×

Sugarman brachydactyly

Sugarman-Hager-Kulik syndrome

ORPHA:498602

Acute interstitial pneumonia

Acute interstitial pneumonitis · Hamman-Rich syndrome

ORPHA:79126

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

ORPHA:3453

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

ORPHA:567502

Craniosynostosis, Boston type

Craniosynostosis, Warman type · Warman-Mulliken-Hayward syndrome

ORPHA:1541

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

ORPHA:2077

Hinman syndrome

HAS · HS

ORPHA:84085

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

ORPHA:245

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

ORPHA:2752

Piebald trait-neurologic defects syndrome

Telfer-Sugar-Jaeger syndrome

ORPHA:2885

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

ORPHA:3246