Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:urofacial syndrome
go back to main search page
Accession:DOID:0050816 term browser browse the term
Definition:An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. (DO)
Synonyms:exact_synonym: Inverted Smile-Neurogenic Bladder;   Inverted smile and occult neuropathic bladder;   Ochoa syndrome;   UFS;   hydronephrosis with peculiar facial expression;   hydronephrosis-inverted Smile;   partial facial palsy with urinary abnormalities;   urofacial Ochoa's syndrome
 primary_id: MESH:C536480
 alt_id: RDO:0002080
 xref: GARD:2781;   OMIM:PS236730
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
urofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpse2 heparanase 2 (inactive) JBrowse link 1 262,020,903 263,138,299 RGD:8554872
RGD:11554173
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 JBrowse link 2 206,928,708 206,997,915 RGD:11554173
Urofacial Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpse2 heparanase 2 (inactive) JBrowse link 1 262,020,903 263,138,299 RGD:7240710
Urofacial Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 JBrowse link 2 206,928,708 206,997,915 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      urofacial syndrome 2
        Urofacial Syndrome 1 1
        Urofacial Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                urofacial syndrome 2
                  Urofacial Syndrome 1 1
                  Urofacial Syndrome 2 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.