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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
RNF13-related severe early-onset epileptic encephalopathy
RNF13-related severe EOEE
Combined oxidative phosphorylation defect type 7
Severe C12ORF65-related combined oxidative phosphorylation defect · Severe C12ORF65-related COXPD
SBDS-related severe neonatal spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia, Sedaghatian-like type · SBDS-related severe neonatal SMD