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"

7 matching diseasesClear search ×

Isolated ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

ORPHA:93320

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

ORPHA:209908

Isolated congenital hepatic fibrosis

Isolated CHF

ORPHA:485426

Isolated humero-ulnar synostosis

Isolated congenital humeroulnar fusion

ORPHA:94056

Isolated nail clubbing

Isolated congenital acropachy · Isolated congenital digital clubbing

ORPHA:217059

Isolated radial hemimelia

Isolated radial ray agenesis · Isolated radial longitidinal meromelia

ORPHA:93321

Isolated radio-ulnar synostosis

Isolated congenital radioulnar fusion

ORPHA:3269