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"
Growth hormone insensitivity syndrome
GHIS · Short stature due to a defect in growth hormone receptor or post-receptor pathway
Laron syndrome
Complete growth hormone insensitivity · GH receptor deficiency
Short stature due to GHSR deficiency
Ghrelin receptor deficiency · Short stature due to growth hormone secretagogue receptor deficiency
Short stature due to growth hormone qualitative anomaly
Kowarski syndrome
Short stature due to partial GHR deficiency
Short stature due to partial growth hormone receptor deficiency