Rhizomelic chondrodysplasia punctata
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 | PEX7 | Causal | ClinVar GenCC Orphanet | ||
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 | GNPAT | Causal | ClinVar GWAS catalog Orphanet | ||
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 | AGPS | Causal | ClinVar GWAS catalog Orphanet | ||
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5 | PEX5 | Causal | ClinVar Disgenet GWAS catalog Orphanet | ||
| DYNC1H1 | Unknown | — | Disgenet | ||
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 | PEX7 | Unknown | CTD Disgenet HPO | ||
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 | GNPAT | Unknown | — | CTD Disgenet HPO | |
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 | AGPS | Unknown | — | CTD Disgenet HPO | |
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 | PEX5 | Unknown | — | CTD HPO |