Rare Disease Library

Spigelian hernia-cryptorchidism syndrome

Terminal osseous dysplasia-pigmentary defects syndrome

Thumb deformity-alopecia-pigmentation anomaly syndrome

Sparse hair-short stature-skin anomalies syndrome

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

Typical urticaria pigmentosa

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR

Xeroderma pigmentosum

Xeroderma pigmentosum variant

XPV

Xeroderma pigmentosum-Cockayne syndrome complex

XP/CS complex