Metaphyseal chondrodysplasia
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| METAPHYSEAL CHONDRODYSPLASIA | FBN1 | Causal | — | Disgenet | ||
| COL10A1 | Unknown | — | Disgenet | |||
| NT5DC1 | Unknown | — | Disgenet | — | ||
| PTH1R | Unknown | — | Disgenet | |||
| TRPS1 | Unknown | — | Disgenet | — | ||
| METAPHYSEAL CHONDRODYSPLASIA SCHMID TYPE | COL10A1 | Unknown | CTD, Disgenet | |||
| NT5DC1 | Unknown | — | Disgenet | — | ||
| SF3B4 | Unknown | — | Disgenet | |||
| METAPHYSEAL CHONDRODYSPLASIA SPAHR TYPE | MMP13 | Unknown | — | CTD, 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 |