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 ×

Microform holoprosencephaly

Holoprosencephaly-like · Microform HPE

ORPHA:280200

Alobar holoprosencephaly

ORPHA:93925

Aprosencephaly

ORPHA:566857

Holoprosencephaly

HPE

ORPHA:2162

Lobar holoprosencephaly

ORPHA:93924

Semilobar holoprosencephaly

ORPHA:220386

Septopreoptic holoprosencephaly

Septopreoptic HPE

ORPHA:280195