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"

9 matching diseasesClear search ×

Autosomal recessive primary microcephaly

MCPH · Microcephalia vera

ORPHA:2512

Achalasia-microcephaly syndrome

ORPHA:929

Amish lethal microcephaly

ORPHA:99742

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

ORPHA:1094

Atelencephaly

Atelencephalic microcephaly

ORPHA:566852

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

ORPHA:66629

Lissencephaly syndrome, Norman-Roberts type

Microlissencephaly type A

ORPHA:89844

Macrocephaly-spastic paraplegia-dysmorphism syndrome

Fryns macrocephaly

ORPHA:2429

Microlissencephaly

ORPHA:1083