Weill-marchesani syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| WEILL-MARCHESANI 4 SYNDROME, RECESSIVE | ADAMTS17 | Causal | ClinVar Disgenet | ||
| WEILL-MARCHESANI SYNDROME | FBN1 | Causal | CTD Disgenet GenCC Orphanet | ||
| ADAMTS10 | Unknown | CTD Disgenet GWAS catalog Orphanet | |||
| ADAMTS17 | Unknown | Disgenet Orphanet | |||
| LTBP2 | Unknown | CTD Disgenet Orphanet | |||
| WEILL-MARCHESANI SYNDROME 1 | ADAMTS10 | Causal | CTD ClinVar Disgenet HPO | ||
| LTBP2 | Causal | — | Disgenet | ||
| WEILL-MARCHESANI SYNDROME 2 | FBN1 | Unknown | — | HPO | |
| WEILL-MARCHESANI SYNDROME 2, DOMINANT | FBN1 | Causal | ClinVar GWAS catalog | ||
| WEILL-MARCHESANI SYNDROME 3 | LTBP2 | Causal | — | ClinVar Disgenet GenCC HPO | |
| WEILL-MARCHESANI SYNDROME 4 | ADAMTS17 | Unknown | — | HPO | |
| WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT | ADAMTS10 | Unknown | — | Disgenet | |
| ADAMTS17 | Unknown | — | Disgenet | ||
| FBN1 | Unknown | — | Disgenet | ||
| LTBP2 | Unknown | — | Disgenet | ||
| WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE | ADAMTS10 | Unknown | — | Disgenet | |
| ADAMTS17 | Unknown | — | Disgenet | ||
| FBN1 | Unknown | — | Disgenet | ||
| LTBP2 | Unknown | — | Disgenet | ||
| WEILL-MARCHESANI-LIKE SYNDROME | ADAMTS17 | Unknown | — | CTD Disgenet |