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"
Progressive deafness with stapes fixation
Stapedo-vestibular ankylosis · Thies-Reis syndrome
Corneal dystrophy-perceptive deafness syndrome
CDPD · Corneal dystrophy with progressive deafness
Duane retraction syndrome with congenital deafness
Duane retraction syndrome with congenital hearing loss · DURS with hearing loss
Gingival fibromatosis-progressive deafness syndrome
Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome
X-linked mixed deafness with perilymphatic gusher
Conductive deafness with stapes fixation · DFNX2