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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:neurogenic bladder
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Accession:DOID:12143 term browser browse the term
Definition:Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES.
Synonyms:exact_synonym: Atonic Neurogenic Bladder;   Bladder Neurogenesis;   Neurogenic Bladder Disorder;   Neurogenic Bladder Disorders;   Neurogenic Dysfunction of the Urinary Bladder;   Neurogenic Urinary Bladder Disorder;   Neurogenic Urinary Bladder, Atonic;   Neurogenic Urinary Bladder, Spastic;   Neurogenic Urinary Bladder, Uninhibited;   Neuropathic Bladder;   Spastic Neurogenic Bladder;   Uninhibited Neurogenic Bladder;   Urinary Bladder Neurogenesis;   Urinary Bladder Neurogenic Dysfunction;   neurogenic urinary bladder
 primary_id: MESH:D001750;   RDO:0005016
 xref: ICD9CM:596.54;   NCI:C79696
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
neurogenic bladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrm2 cholinergic receptor, muscarinic 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20624991 NCBI chr 4:64,089,028...64,091,090
Ensembl chr 4:64,088,900...64,091,090
JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Neurogenic bladder ClinVar NCBI chr 1:209,523,153...209,641,143
Ensembl chr 1:209,523,157...209,641,123
JBrowse link
G Ngf nerve growth factor treatment ISO
IDA
associated with Meningomyelocele;protein:increased expression:urine
associated with Spinal Cord Injuries
RGD PMID:23301927, PMID:22220508 RGD:7242771, RGD:7242776 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Acontractile detrusor
ClinVar Annotator: match by term: CHRNA3-related condition
ClinVar
OMIM
PMID:25741868, PMID:31708116 NCBI chr 8:59,594,007...59,607,122
Ensembl chr 8:59,592,403...59,607,275
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        Neurologic Manifestations 4188
          neurogenic bladder 4
            BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Urogenital Diseases 4147
        urinary system disease 2069
          bladder disease 392
            neurogenic bladder 4
              BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 1
paths to the root

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