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Metadata
ID	DOID:0080963
Name	anauxetic dysplasia 3
Definition	A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. https://pubmed.ncbi.nlm.nih.gov/31250547/
Xrefs	MIM:618853
Subsets	DO_rare_slim
Parent Relationships	is_a anauxetic dysplasia is_a autosomal recessive disease