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"
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Westerhof-Beemer-Cormane syndrome
Beemer-Ertbruggen syndrome
Lethal hydrocephalus-cardiac malformation-dense bones syndrome
Lethal hemolytic anemia-genital anomalies syndrome
Water-West syndrome
Multiple endocrine neoplasia type 1
MEN1 · Wermer syndrome
West syndrome