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Summary Literature (0)
DOID:758 - visceral heterotaxy 5

Disease Ontology Definition:A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs and that has_material_basis_in heterozygous mutation in the NODAL gene on chromosome 10q22.

Synonyms: Complete transposition, Complete transposition (morphologic abnormality), Laterality sequence, Laterality sequence (disorder), situs inversus, situs inversus viscerum, situs inversus viscerum (disorder)

Xenbase Genes : pkd1l1, nodal, mmp21, nme7, cfap53, cfap52, anks3, dnah9

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010029 - dorsal part of pharyngeal pouch 5

MIM:
MIM:270100 - HETEROTAXY, VISCERAL, 5, AUTOSOMAL; HTX5

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), visceral heterotaxy (is_a)