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Metadata
ID	DOID:0080576
Name	spondyloepimetaphyseal dysplasia, Genevieve-type
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
Xrefs	GARD:10057 MESH:C535785 MIM:610442 ORDO:168454
Subsets	DO_rare_slim
Parent Relationships	is_a spondyloepimetaphyseal dysplasia is_a autosomal recessive disease