OBO ID: DOID:0050816
Term Name: urofacial syndrome Search Ontology:
Synonyms:
  • hydronephrosis with peculiar facial expression
  • Ochoa syndrome
Definition: A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. (3)
References:
Ontology: Human Disease   (DOID:0050816)
OTHER urofacial syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HPSE2 Urofacial syndrome 1 236730
LRIG2 Urofacial syndrome 2 615112
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None