microcephaly and chorioretinopathy 2

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

Summary

Literature (0)

DOID:0080106 - microcephaly and chorioretinopathy 2

Disease Ontology Definition:A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene.

Synonyms:

Xenbase 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

: plk4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014516 - microcephaly and chorioretinopathy 2

MONDO:0014516 - microcephaly and chorioretinopathy 2

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

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

Parent(s): autosomal recessive disease (is_a), syndrome (is_a)