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"

13 matching diseasesClear search ×

Atelosteogenesis type I

AO1 · AOI

ORPHA:1190

Acromesomelic dysplasia, Grebe type

Chondrodysplasia, Grebe type

ORPHA:2098

Blomstrand lethal chondrodysplasia

BLC · BOCD

ORPHA:50945

Chondrodysplasia punctata

CDP

ORPHA:93442

Chondrodysplasia punctata, Toriello type

Toriello-Higgins-Miller syndrome

ORPHA:79347

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

ORPHA:289

FGFR3-related chondrodysplasia

ORPHA:93420

Lethal chondrodysplasia

ORPHA:93465

Lethal recessive chondrodysplasia

Maroteaux-Stanescu-Cousin syndrome

ORPHA:1423

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

ORPHA:166272

Rhizomelic chondrodysplasia punctata

RCDP

ORPHA:177

Spondyloenchondrodysplasia

SPENCD · Spondyloenchondromatosis

ORPHA:1855

X-linked dominant chondrodysplasia punctata

CDPX2 · CDPXD

ORPHA:35173