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"
Platyspondylic dysplasia, Torrance type
PLSD-T · Platyspondylic dysplasia, Torrance-Luton type
Greenberg dysplasia
Hydrops-ectopic calcification-motheaten syndrome · Skeletal dysplasia, Greenberg type
NEK9-related lethal skeletal dysplasia
Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
OBSOLETE: Platyspondylic lethal chondrodysplasia
OBSOLETE: Akaba-Hayasaka syndrome
Primary bone dysplasia
Primary osteodysplasia · Primary skeletal dysplasia
Spondylometaphyseal dysplasia, A4 type