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"
Thrombotic microangiopathy
TMA
Severe primary trimethylaminuria
TMAU
Gerstmann syndrome
Gerstmann-Straussler-Scheinker syndrome
Subacute spongiform encephalopathy, Gerstmann-Straussler type
Guttmacher syndrome
Preaxial deficiency-postaxial polydactyly-hypospadias syndrome
Kostmann syndrome
Infantile agranulocytosis · Severe congenital neutropenia type 3
Torpedo Maculopathy
Solitary hypopigmented nevus of the retinal pigment epithelium · TM