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DOID:0060399 - chromosome 16p12.1 deletion syndrome
Disease Ontology Definition:A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects.
Synonyms:
Xenbase Genes :
MONDO:0007631 - chromosome 16p12.1 deletion syndrome, 520kb |
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)