FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term urofacial syndrome ID (Ontology) DOID:0050816 (Human Disease)
Definition A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
Also Known As "hydronephrosis with peculiar facial expression" ; "Ochoa syndrome"
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 Genes
 urofacial syndrome       2
 for disease ribbon | urofacial syndrome       2
 model of | urofacial syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 urofacial syndrome  2 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "hydronephrosis with peculiar facial expression" EXACT
    "Ochoa syndrome" EXACT
Secondary IDs
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GARD:2781
MESH:C536480
MIM:236730
MIM:615112
MIM:PS236730
ORDO:2704