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Summary Literature (0)
DOID:0080962 - anauxetic dysplasia 2

Disease Ontology Definition:A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22.

Synonyms:

Xenbase Genes : pop1


MIM:
MIM:617396 - ANAUXETIC DYSPLASIA 2; ANXD2

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)