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Summary Literature (0)
DOID:0050648 - atelosteogenesis


Disease Ontology Definition:An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.

Synonyms:

Xenbase Genes : flnb, slc26a2, slc26a2.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0000389 - lens cortex

MIM:
MIM:108720 - ATELOSTEOGENESIS, TYPE I; AO1
MIM:108721 - ATELOSTEOGENESIS, TYPE III; AO3
MIM:256050 - ATELOSTEOGENESIS, TYPE II; AO2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): osteochondrodysplasia (is_a), spinal disease (is_a)