Metaphyseal chondrodysplasia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Metaphyseal chondrodysplasia Schmid type | C0265289 | COL10A1 | 17403716, 8304336, 9852679, 8004099, 7876225, 9067753, 8782043, 19035365, 7607655, 15880705 |
| NT5DC1 | |||
| Metaphyseal chondrodysplasia | C0265290 | COL10A1 | |
| FBN1 | |||
| FGFR3 | |||
| GPX4 | |||
| MMP13 | |||
| PTH1R | |||
| RMRP | |||
| SRP54 | |||
| AIFM1 | |||
| HDAC6 | |||
| CWC27 | |||
| SBDS | |||
| DNAJC21 | |||
| Metaphyseal chondrodysplasia Spahr type | C0432225 | MMP13 | 24648384, 24781753 |
| Jansen type metaphyseal chondrodysplasia | C0265295 | PTH1R | 9745456, 8703170, 10487664, 9178745, 7701349, 27160269, 15240651 |
| Metaphyseal chondrodysplasia, Schmid type | 174 | COL10A1 | |
| Metaphyseal chondrodysplasia, Spahr type | 2501 | MMP13 | |
| Metaphyseal chondrodysplasia, Jansen type | 33067 | PTH1R |