All patient-facing tools are free · No login required to browse
All access tools are free for patients and caregivers
All community tools are free for patients and caregivers
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"
SBDS-related severe neonatal spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia, Sedaghatian-like type · SBDS-related severe neonatal SMD
MECP2-related severe neonatal encephalopathy
Severe congenital encephalopathy due to MECP2 mutation
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
MAD deficiency, severe neonatal type · Glutaric aciduria type 2, severe neonatal type
RNF13-related severe early-onset epileptic encephalopathy
RNF13-related severe EOEE