Metaphyseal chondrodysplasia with retinitis pigmentosa
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| METAPHYSEAL CHONDRODYSPLASIA-RETINITIS PIGMENTOSA SYNDROME | CWC27 | Causal | ClinVar, GWAS catalog, ClinGen |