Search Ontology:
Human Disease

spondyloepimetaphyseal dysplasia with joint laxity type 3

Term ID
DOID:0112200
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 the EXOC6B gene on chromosome 2p13.2. https://pubmed.ncbi.nlm.nih.gov/26669664/
References
Ontology
Human Disease   ( DOID:0112200 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models