Rare Disease Library

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"

6 matching diseasesClear search ×

OBSOLETE: Brachydactyly group

OBSOLETE: Brachydactyly with or without extraskeletal manifestations

ORPHA:93456

Dysostosis with brachydactyly with extraskeletal manifestations

ORPHA:498454

Dysostosis with brachydactyly without extraskeletal manifestations

ORPHA:498451

Ectrodactyly with and without other manifestations

ORPHA:498477

Mixed sclerosing bone dystrophy with extra-skeletal manifestations

ORPHA:324364

OBSOLETE: Brachydactyly

ORPHA:294937