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ONTOLOGY REPORT - ANNOTATIONS


Term:BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT
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Accession:DOID:9001213 term browser browse the term
Definition:An autosomal recessive neurogenic disorder with onset in utero or early childhood. Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys.
Synonyms:exact_synonym: ACONTRACTILE DETRUSOR;   BAIPRCK;   URINARY BLADDER, ATONY OF
 broad_synonym: CHRNA3-RELATED CONDITION
 primary_id: OMIM:191800
For additional species annotation, visit the Alliance of Genome Resources.


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BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit JBrowse link 8 59,594,007 59,607,122 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      Urogenital Diseases 4032
        urinary system disease 2028
          CAKUT 20
            BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      Urogenital Diseases 4032
        urinary system disease 2028
          ureteral disease 134
            vesicoureteral reflux 34
              CAKUT 20
                BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.