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"
Fountain syndrome
Deafness-skeletal dysplasia-coarse face with full lips syndrome · Deafness-skeletal dysplasia-lip granuloma syndrome
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Finucane-Kurtz-Scott syndrome · Epiphyseal dysplasia-deafness-dysmorphism syndrome
Metaphyseal dysplasia without hypotrichosis
Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome
Mononen-Karnes-Senac syndrome
Skeletal dysplasia-brachydactyly syndrome
Short-limb skeletal dysplasia with severe combined immunodeficiency
Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome