OBO ID: DOID:0112200
Term Name: spondyloepimetaphyseal dysplasia with joint laxity type 3 Search Ontology:
Synonyms:
  • SEMDJL3
Definition: A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in EXOC6B on chromosome 2p13.2. https://pubmed.ncbi.nlm.nih.gov/26669664/
References:
Ontology: Human Disease   (DOID:0112200)
OTHER spondyloepimetaphyseal dysplasia with joint laxity type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EXOC6B Spondyloepimetaphyseal dysplasia with joint laxity, type 3 618395
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None