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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: hydronephrosis with peculiar facial expression, Ochoa syndrome
Xenbase Genes
:
lrig2,
hpse2
| MONDO:0000463 - organism substance |
| MIM:236730 - UROFACIAL SYNDROME 1; UFS1 |
| MIM:615112 - UROFACIAL SYNDROME 2; UFS2 |
Other Model Organisms: Alliance, 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)