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Echinobase
Summary Literature (0)
DOID:0080033 - craniometaphyseal dysplasia


Disease Ontology Definition:An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.

Synonyms:

Echinobase Genes : wdr19, ift43


OMIM:
MIM:123000 - craniometaphyseal dysplasia, autosomal dominant; cmdd
MIM:614099 - cranioectodermal dysplasia 3; ced3
MIM:614378 - cranioectodermal dysplasia 4; ced4

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

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