ZFIN Human Disease: urofacial syndrome

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:	GARD:2781 MESH:C536480 OMIM:236730 OMIM:615112 OMIM:PS236730 ORDO:2704
Ontology:	Human Disease ( DOID:0050816 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER urofacial syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HPSE2	hpse2	Urofacial syndrome 1	236730
LRIG2	lrig2	Urofacial syndrome 2	615112

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None