Rare Disease Library

DICER1 tumor-predisposition syndrome

PPBFTDS · Pleuropulmonary blastoma familial tumor and dysplasia syndrome

Craniofrontonasal dysplasia-Poland anomaly syndrome

Webster-Deming syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Familial osteodysplasia, Anderson type

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Hip dysplasia, Beukes type

BFHD · Beukes familial hip dysplasia

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome