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"

9 matching diseasesClear search ×

Primary bone dysplasia with multiple joint dislocations

Primary osteodysplasia with multiple joint dislocations · Primary skeletal dysplasia with multiple joint dislocations

ORPHA:93441

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

ORPHA:280586

CHST3-related skeletal dysplasia

Chondrodysplasia with congenital joint dislocations, CHST3 type · SDCD, CHST3 type

ORPHA:263463

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

ORPHA:364526

Primary bone dysplasia with decreased bone density

Primary osteodysplasia with decreased bone density · Primary skeletal dysplasia with decreased bone density

ORPHA:93446

Primary bone dysplasia with defective bone mineralization

Primary osteodysplasia with defective bone mineralization · Primary skeletal dysplasia with defective bone mineralization

ORPHA:93447

Primary bone dysplasia with increased bone density

Primary osteodysplasia with increased bone density · Primary skeletal dysplasia with increased bone density

ORPHA:93444

Primary bone dysplasia with micromelia

Primary osteodysplasia with micromelia · Primary skeletal dysplasia with micromelia

ORPHA:364536

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

SEMD-MD · SEMDJL2

ORPHA:93360