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"

6 matching diseasesClear search ×

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hepatoencephalopathy due to COXPD1

ORPHA:137681

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

ORPHA:71277

Delayed encephalopathy due to carbon monoxide poisoning

Delayed encephalopathy due to CO poisoning

ORPHA:306686

Encephalopathy due to prosaposin deficiency

Combined prosaposin deficiency

ORPHA:139406

Severe X-linked mitochondrial encephalomyopathy

Mitochondrial encephalomyopathy due to COXPD6 · Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6

ORPHA:238329

Urocanic aciduria

Encephalopathy due to urocanase deficiency

ORPHA:210128