Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (1)
DOID:0050816 - urofacial syndrome

Disease Ontology Definition:A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.

Synonyms: Ochoa syndrome, hydronephrosis with peculiar facial expression,

Xenbase Genes : lrig2, hpse2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0000463 - Ochoa syndrome


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)