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 ×

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

ORPHA:247585

Acute neonatal citrullinemia type I

Early-onset citrullinemia type I · Acute neonatal citrullinemia type 1

ORPHA:247546

Adult-onset cervical dystonia, DYT23 type

DYT23 · Dystonia 23

ORPHA:420492

Citrullinemia

ORPHA:187

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

ORPHA:247525

Late-onset citrullinemia type I

Late-onset citrullinemia type 1

ORPHA:247573

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

ORPHA:308604