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osteochondrodysplasia
Summary
- Synonym
-
- Cartilage Development disorder
- Congenital anomaly of cartilage
- Osteochondrodysplasia syndrome
- chondrodystrophy
- skeletal dysplasia
- Definition
- A bone development disease that results_in defective development of cartilage or bone.
- Super Class
- bone development disease cartilage disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2317 | FLNB | filamin B | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3977 | LIFR | LIF receptor subunit alpha | |
| 4148 | MATN3 | matrilin 3 | |
| 5745 | PTH1R | parathyroid hormone 1 receptor | |
| 7040 | TGFB1 | transforming growth factor beta 1 | |
| 7227 | TRPS1 | transcriptional repressor GATA binding 1 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 54808 | DYM | dymeclin |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P50443 | Sulfate transporter | |
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein | |
| Q03431 | Parathyroid hormone/parathyroid hormone-related peptide receptor | |
| Q03692 | Collagen alpha-1(X) chain | |
| Q14050 | Collagen alpha-3(IX) chain | |
| Q14055 | Collagen alpha-2(IX) chain | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 | |
| Q7RTS9 | Dymeclin | |
| Q9UHF7 | Zinc finger transcription factor Trps1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16951 | Cyclic AMP-dependent transcription factor ATF-2 | |
| P28033 | CCAAT/enhancer-binding protein beta | |
| Q9CZW6 | E3 ubiquitin-protein ligase RNF146 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P80204 | TGF-beta receptor type-1 |
