Term Name:	anauxetic dysplasia 3
Synonyms:
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.
Ontology:	Human Disease [DOID:0080963]   ( DOID:0080963 )