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"

62 matching diseasesClear search ×

Spondyloepiphyseal dysplasia, Reardon type

ORPHA:163662

Spondyloepiphyseal dysplasia, Stanescu type

SED, Stanescu type

ORPHA:459051

Spondylometaphyseal dysplasia

ORPHA:254

Spondylometaphyseal dysplasia with combined immunodeficiency

Roifman-Melamed syndrome · SPENCDI

ORPHA:50816

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

SMD-CRD

ORPHA:85167

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

SMD-corneal dystrophy syndrome

ORPHA:589435

Spondylometaphyseal dysplasia, 'corner fracture' type

Spondylometaphyseal dysplasia, Sutcliffe type

ORPHA:93315

Spondylometaphyseal dysplasia, A4 type

ORPHA:168555

Spondylometaphyseal dysplasia, Czarny-Ratajczak type

ORPHA:370019

Spondylometaphyseal dysplasia, Golden type

X-linked spondylometaphyseal dysplasia

ORPHA:168544

Spondylometaphyseal dysplasia, Kozlowski type

ORPHA:93314

Spondylometaphyseal dysplasia, Schmidt type

Spondylometaphyseal dysplasia with severe genu valgum · Spondylometaphyseal dysplasia, Algerian type

ORPHA:93316

Spondylometaphyseal dysplasia, Sedaghatian type

ORPHA:93317

X-linked spondyloepimetaphyseal dysplasia

ORPHA:93349