Search Ontology:
Human Disease
spondyloepimetaphyseal dysplasia with joint laxity
- Term ID
- DOID:0112197
- Synonyms
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- SEMDJL
- Definition
- A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. https://pubmed.ncbi.nlm.nih.gov/30358852/
- References
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- GARD:4982
- MESH:C562968
- MIM:PS271640
- ORDO:93359
- Ontology
- Human Disease ( DOID:0112197 )
- is a type of
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- has subtype
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Other Pages
Genes Involved
Zebrafish Models