|
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:
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)