Rare Disease Library

Orofaciodigital syndrome type 1

OFD1 · OFDI

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

PAPA syndrome

FRA · Familial recurrent arthritis

PAPASH syndrome

Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

Papillon-Lefèvre syndrome

Keratosis palmoplantar-periodontopathy syndrome · PLS

Progressive supranuclear palsy

PSP syndrome

PsAPASH syndrome

Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

Renal coloboma syndrome

Coloboma of optic nerve with renal disease · Papillo-renal syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS