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"

8 matching diseasesClear search ×

Thanatophoric dysplasia type 2

Cloverleaf skull-micromelic bone dysplasia syndrome · TD2

ORPHA:93274

Autosomal recessive omodysplasia

Micromelic dysplasia-dislocation of radius syndrome

ORPHA:93329

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

Benallegue-Lacete syndrome

ORPHA:100978

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Microphthalmia-coloboma-rhizomelic skeletal dysplasia

ORPHA:424099

Dentin dysplasia-sclerotic bones syndrome

ORPHA:99792

Diaphyseal medullary stenosis-bone malignancy syndrome

Bone dysplasia-medullary fibrosarcoma syndrome · Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome

ORPHA:85182

OBSOLETE: Isolated cloverleaf skull syndrome

ORPHA:2343

Primary bone dysplasia with micromelia

Primary osteodysplasia with micromelia · Primary skeletal dysplasia with micromelia

ORPHA:364536