spondyloepimetaphyseal dysplasia with joint laxity
Information
- Disease name
- spondyloepimetaphyseal dysplasia with joint laxity
- Disease ID
- DOID:0112197
- Description
- "A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility." [url:https\://pubmed.ncbi.nlm.nih.gov/30358852/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0080027
- Cross Reference ID (Disease Ontology)
- GARD:4982
- Cross Reference ID (Disease Ontology)
- MESH:C562968
- Cross Reference ID (Disease Ontology)
- MIM:PS271640
- Cross Reference ID (Disease Ontology)
- ORDO:93359
- Exact Synonym (Disease Ontology)
- SEMDJL