Disease Term Disease ID Gene Symbol Classification References Source
SACRAL AGENESIS BMP4 Unknown Disgenet
RYR1 Unknown Disgenet
TBX4 Unknown Disgenet
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES TBXT Unknown Disgenet HPO
SACRAL AGENESIS, ABNORMAL OSSIFICATION OF VERTEBRAL BODIES, PERSISTENT NOTOCHORDAL CANAL SYNDROME TBXT Unknown Disgenet
SACRAL AGENESIS-ABNORMAL OSSIFICATION OF THE VERTEBRAL BODIES-PERSISTENT NOTOCHORDAL CANAL SYNDROME
397927MONDO:0014314ORPHA397927
TBXT Causal ClinVar GWAS catalog Orphanet