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 ×

Late-onset citrullinemia type I

Late-onset citrullinemia type 1

ORPHA:247573

Acute neonatal citrullinemia type I

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

ORPHA:247546

Citrullinemia

ORPHA:187

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

ORPHA:247525

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

ORPHA:247585

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

ORPHA:420429

Late-onset Steinert myotonic dystrophy

Late-onset Steinert disease · Late-onset myotonic dystrophy type 1

ORPHA:589833