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 ×

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

ORPHA:800

CHST3-related skeletal dysplasia

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

ORPHA:263463

Greenberg dysplasia

Hydrops-ectopic calcification-motheaten syndrome · Skeletal dysplasia, Greenberg type

ORPHA:1426

Mononen-Karnes-Senac syndrome

Skeletal dysplasia-brachydactyly syndrome

ORPHA:2565

NEK9-related lethal skeletal dysplasia

Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

ORPHA:464366

OBSOLETE: ACAN-related skeletal dysplasia

ORPHA:435808

OBSOLETE: Epimetaphyseal skeletal dysplasia

ORPHA:1819

Otodental syndrome

Globodontia · Otodental dysplasia

ORPHA:2791

Primary bone dysplasia

Primary osteodysplasia · Primary skeletal dysplasia

ORPHA:364526

Primary bone dysplasia with micromelia

Primary osteodysplasia with micromelia · Primary skeletal dysplasia with micromelia

ORPHA:364536

Renal dysplasia

Kidney dysplasia

ORPHA:93108

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

ORPHA:935

Singleton-Merten dysplasia

Singleton-Merten syndrome

ORPHA:85191