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 ×

Miller-Dieker syndrome

Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3

ORPHA:531

Classic lissencephaly

Lissencephaly type 1

ORPHA:102009

Lissencephaly

ORPHA:48471

Lissencephaly due to LIS1 mutation

PAFAH1B1-related lissencephaly

ORPHA:95232

Lissencephaly due to TUBA1A mutation

ORPHA:171680

Lissencephaly type 1 due to doublecortin gene mutation

X-linked lissencephaly type 1

ORPHA:2148

Lissencephaly type 3

ORPHA:102011