Rare Disease Library

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Schmitt-Gillenwater-Kelly syndrome

Aniridia-cerebellar ataxia-intellectual disability syndrome

Gillespie syndrome

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

HPRT deficiency, grade I · HPRT partial deficiency

Microcephaly-digital anomalies-intellectual disability syndrome

Kelly-Kirson-Wyatt syndrome

Plummer-Vinson syndrome

Kelly-Paterson syndrome · Sideropenic dysphagia