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"

54 matching diseasesClear search ×

Split cord malformation type I

Diastematomyelia · SCM type I

ORPHA:1671

Spondyloepimetaphyseal dysplasia, Missouri type

SEMD type 2 · SEMD, Missouri type

ORPHA:93356

Syndactyly type 1

ORPHA:93402

Temperature-sensitive oculocutaneous albinism type 1

OCA1-TS · TS OCA type 1

ORPHA:352737

Timothy syndrome type 1

TS1 · LQT8 type 1

ORPHA:595098

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX

ORPHA:139557