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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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



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BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: CHRNA3-related condition | ClinVar Annotator: match by term: Urinary bladder, atony of ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:31708116 NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        autonomic nervous system disease 76
          autonomic neuropathy 1
            BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 1
Path 2
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        Neurologic Manifestations 9994
          sensory system disease 6891
            eye disease 3449
              pupil disease 26
                abnormal pupillary function 1
                  BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 1
paths to the root