Metaphyseal chondrodysplasia with retinitis pigmentosa

Disease Term Disease ID Gene Symbol Classification References Source
METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA
C1855188MESH:C565398
CWC27 Unknown — CTD Disgenet
METAPHYSEAL CHONDRODYSPLASIA-RETINITIS PIGMENTOSA SYNDROME
MONDO:0009598
CWC27 Causal
28285769 36718996
ClinVar GWAS catalog