Rare Disease Library

Iridocorneal endothelial syndrome

ICE syndrome

IRVAN syndrome

Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome

Isolated congenital onychodysplasia

COIF · COIF syndrome

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Lynch syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

N syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Oguchi disease

Congenital stationary night blindness, Oguchi type · Oguchi syndrome

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

W syndrome

Pallister-W syndrome