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 ×

Isolated acheiropodia

Isolated acheiropody

ORPHA:931

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

ORPHA:263524

Isolated acheiria

Isolated congenital absence of hand

ORPHA:294983

Isolated adrenal medullary hyperplasia

Isolated AMH

ORPHA:688649

Isolated amyelia

ORPHA:268868

Isolated apodia

Isolated congenital absence of foot

ORPHA:294986

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 idiopathic anterior uveitis

Isolated IAU

ORPHA:280914