Metaphyseal chondrodysplasia
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| METAPHYSEAL CHONDRODYSPLASIA | FBN1 | Causal | — | Disgenet | ||
| METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE | PTH1R | Causal | ClinVar, Disgenet, HPO, Orphanet | |||
| METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE | COL10A1 | Causal | ClinVar, HPO, Orphanet | |||
| METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE | MMP13 | Causal | ClinVar, GWAS catalog, Orphanet | |||
| METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA | IDH1 | Causal | Orphanet |