anauxetic dysplasia 3

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Summary

Literature (0)

DOID:0080963 - anauxetic dysplasia 3

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:618853 - ANAUXETIC DYSPLASIA 3; ANXD3

MIM:618853 - ANAUXETIC DYSPLASIA 3; ANXD3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): anauxetic dysplasia (is_a), autosomal recessive disease (is_a)