Choanal atresia syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CHOANAL ATRESIA | CHD7 | Causal | — | Disgenet | |
| KMT2D | Unknown | — | Disgenet | ||
| CHOANAL ATRESIA AND LYMPHEDEMA | PTPN14 | Unknown | — | CTD HPO | |
| CHOANAL ATRESIA, ATHELIA, HYPOTHYROIDISM, DELAYED PUBERTY, SHORT STATURE SYNDROME | KMT2D | Unknown | — | Disgenet | |
| CHOANAL ATRESIA-ATHELIA-HYPOTHYROIDISM-DELAYED PUBERTY-SHORT STATURE SYNDROME | KMT2D | Causal | ClinVar GWAS catalog Orphanet | ||
| CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME | TXNL4A | Causal | CTD ClinGen ClinVar | ||
| POLR1A | Unknown | ClinVar |