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"
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
7q36.3 microduplication syndrome · Dup(7)(q36.3)
3q26 microduplication syndrome
Dup(3)(q26) · Trisomy 3q26
5q35 microduplication syndrome
Dup(5)(q35) · Trisomy 5q35
7q11.23 microduplication syndrome
Dup(7)(q11.23) · Trisomy 7q11.23
Xq12-q13.3 duplication syndrome
Dup(X)(q12-q13.3) · Kaya-Prontera syndrome