|
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: situs inversus, Complete transposition (morphologic abnormality), Laterality sequence (disorder), situs inversus viscerum (disorder), Complete transposition, Laterality sequence, situs inversus viscerum
Xenbase Genes
:
pkd1l1,
nodal,
mmp21,
nme7,
cfap53,
cfap52,
anks3,
dnah9
| MONDO:0010029 - dorsal part of pharyngeal pouch 5 |
| 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