OBO ID: DOID:0080576
Term Name: spondyloepimetaphyseal dysplasia, Genevieve-type Search Ontology:
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)
OTHER spondyloepimetaphyseal dysplasia, Genevieve-type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NANS Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None