craniometaphyseal dysplasia

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: wdr19, ift43

MIM:

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

MIM:123000 - craniometaphyseal dysplasia, autosomal dominant; cmdd

MIM:614099 - cranioectodermal dysplasia 3; ced3

MIM:614378 - cranioectodermal dysplasia 4; ced4

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): osteosclerosis (is_a)