OBO ID: DOID:0112198
Term Name: spondyloepimetaphyseal dysplasia with joint laxity type 1 Search Ontology:
Synonyms:
  • SEMDJL1
  • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Definition: A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. https://pubmed.ncbi.nlm.nih.gov/10482874/
References:
Ontology: Human Disease   ( DOID:0112198 )
Relationships
is a type of:
OTHER spondyloepimetaphyseal dysplasia with joint laxity type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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