|OBO ID: DOID:0112196|
|Term Name:||spondylometaepiphyseal dysplasia, short limb-hand type||Search Ontology:|
|Definition:||A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3. (2)|
|Ontology:||Human Disease (DOID:0112196)|
|is a type of:||
OTHER spondylometaepiphyseal dysplasia, short limb-hand type PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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