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"

23 matching diseasesClear search ×

Blomstrand lethal chondrodysplasia

BLC · BOCD

ORPHA:50945

Acromesomelic dysplasia, Grebe type

Chondrodysplasia, Grebe type

ORPHA:2098

Atelosteogenesis type I

AO1 · AOI

ORPHA:1190

Cartilage-hair hypoplasia

Autosomal recessive metaphyseal chondrodysplasia · Metaphyseal chondrodysplasia, McKusick type

ORPHA:175

Chondrodysplasia punctata

CDP

ORPHA:93442

Chondrodysplasia punctata, tibial-metacarpal type

ORPHA:79346

Chondrodysplasia punctata, Toriello type

Toriello-Higgins-Miller syndrome

ORPHA:79347

FGFR3-related chondrodysplasia

ORPHA:93420

Lethal chondrodysplasia

ORPHA:93465

Metaphyseal chondrodysplasia, Jansen type

ORPHA:33067

Metaphyseal chondrodysplasia, Kaitila type

ORPHA:166038

Metaphyseal chondrodysplasia, Rosenberg type

Rosenberg-Lohr syndrome

ORPHA:1837

Metaphyseal chondrodysplasia, Schmid type

MDSC · SMCD

ORPHA:174

Metaphyseal chondrodysplasia, Spahr type

ORPHA:2501

OBSOLETE: Chondrodysplasia punctata, Sheffield type

ORPHA:79344

OBSOLETE: Lethal chondrodysplasia, Moerman type

OBSOLETE: Moerman-Vandenberghe-Fryns syndrome

ORPHA:1420

OBSOLETE: Lethal chondrodysplasia, Seller type

ORPHA:1421

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

ORPHA:166272

Rhizomelic chondrodysplasia punctata type 1

ORPHA:309789

Rhizomelic chondrodysplasia punctata type 2

ORPHA:309796

Rhizomelic chondrodysplasia punctata type 3

ORPHA:309803

Rhizomelic chondrodysplasia punctata type 5

ORPHA:468717

X-linked dominant chondrodysplasia punctata

CDPX2 · CDPXD

ORPHA:35173