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Summary Literature (4)
DOID:0050460 - Wolf-Hirschhorn syndrome


Disease Ontology Definition:A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4.

Synonyms: 4p deletion syndrome, PITT SYNDROME, Pitt-Rogers-Danks Syndrome, chromosome 4p16.3 deletion syndrome

Xenbase Genes : fgfrl1, ctbp1, letm1, nsd2, nelfa, cplx1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008684 - Wolf-Hirschhorn syndrome

OMIM:
OMIM:194190 - WOLF-HIRSCHHORN SYNDROME; WHS

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): chromosomal deletion syndrome (is_a)