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craniometaphyseal dysplasia
Summary
- Definition
- An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.
- Super Class
- osteosclerosis
External Links
- Disease Ontology
- DOID:0080033
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1120 | CHKB | choline kinase beta | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2218 | FKTN | fukutin | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 3960 | LGALS4 | galectin 4 | |
| 4351 | MPI | mannose phosphate isomerase | |
| 6484 | ST3GAL4 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
