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DOID:0081237 - acromesomelic dysplasia-3
Disease Ontology Definition:An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22.
Synonyms: Demirhan-type acromesomelic dysplasia
Xenbase Genes : bmpr1b
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
acromesomelic dysplasia (is_a)