chromosome 1q21.1 deletion syndrome

Summary

DOID:0060411 - chromosome 1q21.1 deletion syndrome

Disease Ontology Definition:A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.

Synonyms: 1q21.1 microdeletion syndrome, monosomy 1q21.1

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

: gja5, gja8

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012914 - chromosome 1q21.1 deletion syndrome

MONDO:0012914 - chromosome 1q21.1 deletion syndrome

MIM:

MIM:612474 - CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB

MIM:612474 - CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB

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

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

Parent(s): chromosomal deletion syndrome (is_a)