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"

107 matching diseasesClear search ×

Short stature-wormian bones-dextrocardia syndrome

Stratton-Parker syndrome

ORPHA:2863

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

ORPHA:53721

Steel syndrome

Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome

ORPHA:438117

Stromme syndrome

Jejunal atresia-microcephaly-ocular anomalies syndrome · Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome

ORPHA:506307

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

ORPHA:140952

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

Tumor necrosis factor receptor 1 associated periodic syndrome

Familial Hibernian fever · TNF receptor 1-associated periodic syndrome

ORPHA:32960

W syndrome

Pallister-W syndrome

ORPHA:2804

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469