※ PTMD 2.0 database Online Browse Options
Browse result for Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
※ introduction Calvarial doughnut lesions-bone fragility syndrome, also known as familial calvarial doughnut lesions, is a rare autosomal dominant genetic disorder characterized by mild to moderate fragility of the bones accompanied with calvarial doughnut lesions.
Reference
Wiki: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
Reference
Wiki: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD10203 | Q8NHU3 | 16692 | SGMS2 | Phosphatidylcholine:ceramide cholinephosphotransferase 2 | Homo sapiens |
