X-linked chondrodysplasia punctata

Disease Term Disease ID Gene Symbol Classification References Source
X-LINKED CHONDRODYSPLASIA PUNCTATA 1
C3669395MESH:C580533MONDO:0010555
ARSL Causal
12567415 9409863 7720070 18348268
CTD ClinGen ClinVar Disgenet GWAS catalog
X-LINKED CHONDRODYSPLASIA PUNCTATA 2
MONDO:0020603
EBP Unknown
10391219 10942423 12503101 11038443 10391218
CTD