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ONTOLOGY REPORT - ANNOTATIONS


Term:urofacial syndrome
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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: Hydronephrosis with peculiar facial expression;   Inverted Smile-Neurogenic Bladder;   Inverted smile and occult neuropathic bladder;   Ochoa syndrome;   Partial facial palsy with urinary abnormalities;   UFS;   hydronephrosis-inverted Smile;   urofacial Ochoa's syndrome
 primary_id: MESH:C536480
 alt_id: RDO:0002080
 xref: GARD:2781
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    syndrome 4210
      urofacial syndrome 2
        Urofacial Syndrome 1 1
        Urofacial Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal recessive disease 1250
                urofacial syndrome 2
                  Urofacial Syndrome 1 1
                  Urofacial Syndrome 2 1
paths to the root