Search Ontology:
Human Disease

spondyloepimetaphyseal dysplasia with joint laxity

Term ID
DOID:0112197
Synonyms
  • SEMDJL
Definition
A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. https://pubmed.ncbi.nlm.nih.gov/30358852/
References
Ontology
Human Disease   ( DOID:0112197 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models