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"

2 matching diseasesClear search ×

Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

Gitelman-like kidney tubulopathy due to mtDNA mutation

ORPHA:620371

Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation

Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation · Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation

ORPHA:324525