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

In OMIM:

OMIM:194190 - WOLF-HIRSCHHORN SYNDROME; WHS

In Mondo Disease Ontology:

MONDO:0008684 - Wolf-Hirschhorn syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

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

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