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Human Disease

spondyloepimetaphyseal dysplasia, Genevieve-type

Term ID
DOID:0080576
Synonyms
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
References
Ontology
Human Disease   ( DOID:0080576 )
Relationships
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Genes Involved
Zebrafish Models