Congenital contractural arachnodactyly
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CONGENITAL CONTRACTURAL ARACHNODACTYLY | FBN1 | Causal | — | CTD Disgenet | |
| FBN2 | Causal | CTD ClinVar Disgenet GWAS catalog Orphanet | |||
| ABL1 | Unknown | — | CTD | ||
| AEBP1 | Unknown | — | CTD | ||
| ASPH | Unknown | — | CTD | ||
| BGN | Unknown | — | CTD | ||
| CBS | Unknown | — | CTD | ||
| COL3A1 | Unknown | — | CTD | ||
| EFEMP1 | Unknown | — | CTD | ||
| EFEMP2 | Unknown | — | CTD | ||
| EMILIN1 | Unknown | — | CTD | ||
| FKBP14 | Unknown | — | CTD | ||
| IPO8 | Unknown | — | CTD | ||
| LOX | Unknown | — | CTD | ||
| LTBP3 | Unknown | — | CTD | ||
| MFAP5 | Unknown | — | CTD | ||
| NPR2 | Unknown | — | CTD | ||
| NPR3 | Unknown | — | CTD | ||
| PLOD1 | Unknown | — | CTD | ||
| PMEPA1 | Unknown | — | CTD | ||
| SKI | Unknown | — | CTD | ||
| SLC2A10 | Unknown | — | CTD | ||
| SMAD2 | Unknown | — | CTD | ||
| SMAD3 | Unknown | — | CTD | ||
| TGFB2 | Unknown | — | CTD | ||
| TGFB3 | Unknown | — | CTD | ||
| TGFBR1 | Unknown | — | CTD | ||
| TGFBR2 | Unknown | — | CTD | ||
| THSD4 | Unknown | — | CTD | ||
| CONTRACTURAL ARACHNODACTYLY, CONGENITAL | FBN2 | Unknown | — | HPO |