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Summary Literature (0)
DOID:0050640 - anauxetic dysplasia 1

Disease Ontology Definition:An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.

Synonyms: spondylometaepiphyseal dysplasia, Menger type

Xenbase Genes : pop1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011773 - anauxetic dysplasia


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), spondyloepimetaphyseal dysplasia (is_a)