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Metadata
DOID DOID:0050816
Name urofacial syndrome
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.
http://en.wikipedia.org/wiki/Urofacial_syndrome, http://omim.org/entry/236730, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704
Synonyms

hydronephrosis with peculiar facial expression [EXACT]

Ochoa syndrome [EXACT]

Xrefs

GARD:2781

MESH:C536480

OMIM:236730

OMIM:615112

Relationships

is_a autosomal recessive disease

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