microcephaly with or without chorioretinopathy, lymphedema, or mental retardation

Summary

DOID:0060349 - microcephaly with or without chorioretinopathy, lymphedema, or mental retardation

Disease Ontology Definition:A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

Synonyms: chorioretinal dysplasia-microcephaly-mental retardation syndrome, lymphedema and retinal folds with ficrocephaly and microphthalmos, lymphedema, microcephaly and chorioretinopathy syndrome, microcephaly lymphedema chorioretinal dysplasia, microcephaly, lymphedema, chorioretinal dysplasia syndrome

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

: kif11

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007918 - microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

MONDO:0007918 - microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

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

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

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