GlyCosmos Portal

urofacial syndrome

Synonym

Definition

A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.

Super Class

autosomal recessive disease syndrome

Disease Ontology

DOID:0050816

Mondo Disease Ontology

MeSH

ORDO

OMIM

GARD

MGI genotype (from TogoID)

Related Genes

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
9860	LRIG2	leucine rich repeats and immunoglobulin like domains 2	Alliance of Genome Resources
60495	HPSE2	heparanase 2 (inactive)	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
269473	Lrig2	leucine-rich repeats and immunoglobulin-like domains 2	Alliance of Genome Resources
545291	Hpse2	heparanase 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
176849	sma-10	Leucine-rich repeats and immunoglobulin-like domains protein sma-10	Alliance of Genome Resources

Displaying entries **1 - 10** of 17 in total

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HPO ID	HPO Term
HP:0000010	Recurrent urinary tract infections
HP:0000020	Urinary incontinence
HP:0000028	Cryptorchidism
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000126	Hydronephrosis
HP:0000796	Urethral obstruction
HP:0000822	Hypertension
HP:0001959	Polydipsia
HP:0002019	Constipation