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"

11 matching diseasesClear search ×

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469

Alobar holoprosencephaly

ORPHA:93925

Aprosencephaly

ORPHA:566857

Aprosencephaly cerebellar dysgenesis

ORPHA:1126

Aprosencephaly/atelencephaly spectrum

AP/AT spectum

ORPHA:566847

Atelencephaly

Atelencephalic microcephaly

ORPHA:566852

Holoprosencephaly

HPE

ORPHA:2162

Lissencephaly

ORPHA:48471

Lobar holoprosencephaly

ORPHA:93924

Microform holoprosencephaly

Holoprosencephaly-like · Microform HPE

ORPHA:280200

Semilobar holoprosencephaly

ORPHA:220386