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"

5 matching diseasesClear search ×

Isolated radial hemimelia

Isolated radial ray agenesis · Isolated radial longitidinal meromelia

ORPHA:93321

Isolated congenital radial head dislocation

Isolated congenital elbow dislocation

ORPHA:295032

Isolated humero-radial synostosis

Isolated congenital humeroradial fusion

ORPHA:3265

Isolated nail clubbing

Isolated congenital acropachy · Isolated congenital digital clubbing

ORPHA:217059

Isolated ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

ORPHA:93320