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Echinobase
Summary Literature (0)
DOID:0050816 - urofacial syndrome

Disease Ontology Definition:An autosomal recessive disease 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,

Echinobase Genes : hpse2


OMIM:
MIM:236730 - urofacial syndrome 1; ufs1
MIM:615112 - urofacial syndrome 2; ufs2

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)