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"

14 matching diseasesClear search ×

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

ORPHA:28378

Tyrosinemia type 3

Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency

ORPHA:69723

Alexander disease type II

AxD type II

ORPHA:363722

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

ORPHA:247525

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

ORPHA:247585

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

ORPHA:98873

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

ORPHA:365

Hyperlysinemia

Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency

ORPHA:2203

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

ORPHA:268994

Mixed cryoglobulinemia type II

MC type II

ORPHA:93554

Mixed cryoglobulinemia type III

MC type III

ORPHA:93555

Proximal spinal muscular atrophy type 2

Intermediate spinal muscular atrophy · Kugelberg-Welander disease

ORPHA:83418

Saccharopinuria

Hyperlysinemia type II · Saccharopine dehydrogenase deficiency

ORPHA:3124

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

ORPHA:882