Bone fragility with contractures, arterial rupture, and deafness
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS | PLOD3 | Causal | CTD ClinVar Disgenet | ||
| ALPL | Unknown | — | CTD | ||
| AMBN | Unknown | — | CTD | ||
| B3GALT6 | Unknown | — | CTD | ||
| B3GAT3 | Unknown | — | CTD | ||
| B4GALT7 | Unknown | — | CTD | ||
| BMP1 | Unknown | — | CTD | ||
| CCDC134 | Unknown | — | CTD | ||
| CHST3 | Unknown | — | CTD | ||
| COL1A1 | Unknown | — | CTD | ||
| COL1A2 | Unknown | — | CTD | ||
| COPB2 | Unknown | — | CTD | ||
| CREB3L1 | Unknown | — | CTD | ||
| CRTAP | Unknown | — | CTD | ||
| DSPP | Unknown | — | CTD | ||
| EMILIN1 | Unknown | — | CTD | ||
| FKBP10 | Unknown | — | CTD | ||
| GORAB | Unknown | — | CTD | ||
| IFITM5 | Unknown | — | CTD | ||
| KDELR2 | Unknown | — | CTD | ||
| KIF5B | Unknown | — | CTD | ||
| LIFR | Unknown | — | CTD | ||
| LRP5 | Unknown | — | CTD | ||
| MBTPS2 | Unknown | — | CTD | ||
| MESD | Unknown | — | CTD | ||
| MIA3 | Unknown | — | CTD | ||
| NBAS | Unknown | — | CTD | ||
| P3H1 | Unknown | — | CTD | ||
| P4HA1 | Unknown | — | CTD | ||
| P4HB | Unknown | — | CTD | ||
| PHLDB1 | Unknown | — | CTD | ||
| PLOD2 | Unknown | — | CTD | ||
| PLS3 | Unknown | — | CTD | ||
| PPIB | Unknown | — | CTD | ||
| SEC16B | Unknown | — | CTD | ||
| SEC24D | Unknown | — | CTD | ||
| SERPINF1 | Unknown | — | CTD | ||
| SERPINH1 | Unknown | — | CTD | ||
| SGMS2 | Unknown | — | CTD | ||
| SLC10A7 | Unknown | — | CTD | ||
| SP7 | Unknown | — | CTD | ||
| SPARC | Unknown | — | CTD | ||
| TAPT1 | Unknown | — | CTD | ||
| TENT5A | Unknown | — | CTD | ||
| TMEM38B | Unknown | — | CTD | ||
| WNT1 | Unknown | — | CTD | ||
| WNT11 | Unknown | — | CTD | ||
| XYLT1 | Unknown | — | CTD | ||
| XYLT2 | Unknown | — | CTD |