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 ×

OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency

OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency · OBSOLETE: Fatal infantile HCM due to mitochondrial complex I deficiency

ORPHA:289527

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Fatal congenital hypertrophic cardiomyopathy due to GSD · Fatal congenital hypertrophic cardiomyopathy due to glycogenosis

ORPHA:439854

Fatal infantile cytochrome C oxidase deficiency

Fatal infantile COX deficiency · Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency

ORPHA:1561

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

COXPD16 · Combined oxidative phosphorylation defect type 16

ORPHA:352563

Isolated complex I deficiency

Isolated NADH-coenzyme Q reductase deficiency · Isolated NADH-ubiquinone reductase deficiency

ORPHA:2609

OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training

ORPHA:217601