OBO ID: DOID:0080576 |
Term Name: | spondyloepimetaphyseal dysplasia, Genevieve-type | Search Ontology: | |
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Definition: | A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/27213289 | ||
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Ontology: | Human Disease ( DOID:0080576 ) |
OTHER spondyloepimetaphyseal dysplasia, Genevieve-type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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