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"

6 matching diseasesClear search ×

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

ORPHA:171839

Familial scaphocephaly syndrome

ORPHA:169163

Familial scaphocephaly syndrome, McGillivray type

Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

ORPHA:168624

OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome

OBSOLETE: Jorgenson-Lenz syndrome

ORPHA:1256

Radioulnar synostosis-developmental delay-hypotonia syndrome

Der Kaloustian-McIntosh-Silver syndrome

ORPHA:3270

Radioulnar synostosis-microcephaly-scoliosis syndrome

Giuffré-Tsukahara syndrome · Tsukahara syndrome

ORPHA:3268