Summary Literature (0)

DOID:0111159 - partial trisomy distal 4q

Disease Ontology Definition:A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q.

Synonyms: Chromosome 4, Partial Trisomy 4q (4q2 and 4q3, included), Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q32-qter, included), Distal 4q Trisomy, Dup(4q) Syndrome, Partial, Duplication 4q Syndrome, Partial, Partial Trisomy 4q Syndrome,

Xenbase Genes :

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0016955 - partial duplication of the long arm of chromosome 4

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

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