urofacial syndrome

Summary
Synonym
  • Ochoa syndrome
  • hydronephrosis with peculiar facial expression
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
External Links
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
10855 HPSE heparanase
60495 HPSE2 heparanase 2 (inactive)
Displaying 1 entry
Gene ID Gene Symbol Description Source
545291 Hpse2 heparanase 2
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
Q8WWQ2 Inactive heparanase-2
Q9Y251 Heparanase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 17 in total
HPO ID HPO Term
HP:0000076 Vesicoureteral reflux
HP:0000822 Hypertension
HP:0000020 Urinary incontinence
HP:0002019 Constipation
HP:0000126 Hydronephrosis
HP:0000010 Recurrent urinary tract infections
HP:0001959 Polydipsia
HP:0000083 Renal insufficiency
HP:0002607 Bowel incontinence
HP:0000028 Cryptorchidism
Displaying 1 entry
Gene ID Gene Symbol Description
60495 HPSE2 heparanase 2 (inactive)

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024