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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

In OMIM:
OMIM:236730 - UROFACIAL SYNDROME 1; UFS1
OMIM:615112 - UROFACIAL SYNDROME 2; UFS2

In Mondo Disease Ontology:
MONDO:0000463 - Ochoa syndrome

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

Xenbase Genes : lrig2, hpse2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)