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"
Neurofaciodigitorenal syndrome
Freire Maia-Pinheiro-Opitz syndrome
Early-onset parkinsonism-intellectual disability syndrome
Laxova-Opitz syndrome · Waisman syndrome
FG syndrome type 1
Opitz-Kaveggia syndrome
Oculotrichodysplasia
Cecato de Lima-Pinheiro syndrome
Odontotrichomelic syndrome
Freire-Maia syndrome
Opitz GBBB syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome
Trichodermodysplasia-dental alterations syndrome
Pinheiro-Freire Maia-Miranda syndrome