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 ×

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

ORPHA:296

Cheirospondyloenchondromatosis

Generalized enchondromatosis with platyspondyly · Enchondromatosis Spranger, type VI

ORPHA:99647

Genochondromatosis type 1

ORPHA:85197

Genochondromatosis type 2

ORPHA:93398

Maffucci syndrome

Multiple Enchondromatosis, Maffucci Type · Multiple Enchondromatosis type II

ORPHA:163634

Multiple osteochondromas

Bessel-Hagen disease · Multiple cartilaginous exostoses

ORPHA:321