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"
Hypoglossia-hypodactyly syndrome
Aglossia-adactylia syndrome · Hanhart syndrome
ADULT syndrome
Acro-dermato-ungual-lacrimal-tooth syndrome · Pigment anomaly-ectrodactyly-hypodontia syndrome
Antisynthetase syndrome
AS syndrome · Anti-Jo1 syndrome
Helsmoortel-Van der Aa syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder · ADNP-related Helsmoortel-Van der Aa syndrome
Holmes-Adie syndrome
Tonic pupil-tendon areflexia syndrome · Adie syndrome
Microphthalmia with limb anomalies
Anophthalmia-syndactyly syndrome · OAS
Polydactyly-myopia syndrome
Czeizel-Brooser syndrome
Timothy syndrome
LQT8 · Long QT syndrome type 8