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Summary Literature (0)
DOID:0050790 - fibular hypoplasia and complex brachydactyly


Disease Ontology Definition:An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly.

Synonyms: acromesomelic dysplasia-2B, Du Pan syndrome

Xenbase Genes : gdf5, bmpr1b

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009231 - acromesomelic dysplasia 2B


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), autosomal recessive disease (is_a), bone development disease (is_a)