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"

8 matching diseasesClear search ×

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

ORPHA:415

Gyrate atrophy of choroid and retina

HOGA · Hyperornithinemia

ORPHA:414

Argininemia

Arginase 1 deficiency · Arginase deficiency

ORPHA:90

Histidinemia

HAL deficiency · HIS deficiency

ORPHA:2157

Hyper-beta-alaninemia

Hyperalaninemia

ORPHA:309147

Hyperbiliverdinemia

Green jaundice

ORPHA:276405

Hyperlysinemia

Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency

ORPHA:2203

Hypermethioninemia encephalopathy due to adenosine kinase deficiency

ADK hypermethioninemia · Hypermethioninemia encephalopathy due to ADK deficiency

ORPHA:289290