OBO ID: DOID:0112200 |
Term Name: | spondyloepimetaphyseal dysplasia with joint laxity type 3 | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0112200 ) |
OTHER spondyloepimetaphyseal dysplasia with joint laxity type 3 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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