Hennekam lymphangiectasia-lymphedema syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Hennekam lymphangiectasia-lymphedema syndrome | C0340834 | ADAMTS3 | Causal Pathogenic evidence from ClinVar | 28985353 | ClinVar |
| CCBE1 | Causal Pathogenic evidence from ClinVar | 19911200, 19935664 | ClinVar | ||
| FAT4 | Causal Pathogenic evidence from ClinVar | 24913602 | ClinVar | ||
| HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 | C4748408 | ADAMTS3 | Causal Pathogenic evidence from ClinVar | 28985353, 30450763 | ClinVar |
| HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 | C4012050 | CCBE1 | Causal Pathogenic evidence from ClinVar | 12794699, 19911200, 19935664, 24913602 | ClinVar |
| FAT4 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 | C4014939 | FAT4 | Causal Pathogenic evidence from ClinVar | 24056717, 24913602, 29681106 | ClinVar |