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"

12 matching diseasesClear search ×

Microform holoprosencephaly

Holoprosencephaly-like · Microform HPE

ORPHA:280200

Alobar holoprosencephaly

ORPHA:93925

Aprosencephaly

ORPHA:566857

Holoprosencephaly

HPE

ORPHA:2162

Holoprosencephaly-caudal dysgenesis syndrome

ORPHA:2165

Holoprosencephaly-craniosynostosis syndrome

Camero-Lituania-Cohen syndrome · Genoa syndrome

ORPHA:2163

Holoprosencephaly-postaxial polydactyly syndrome

Pseudo-trisomy 13 syndrome

ORPHA:2166

Lissencephaly

ORPHA:48471

Lobar holoprosencephaly

ORPHA:93924

Semilobar holoprosencephaly

ORPHA:220386

Septopreoptic holoprosencephaly

Septopreoptic HPE

ORPHA:280195

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469