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Ochoa syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.
Disease Ontology Description An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
Mondo Term and Equivalent IDs
MONDO:0000463:  Ochoa syndrome
GARD:0000104: 
MESH:C536480: 
OMIMPS:236730: 
Orphanet:2704: 
SCTID:236533008: