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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 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;   neurogenic bladder disorders;   neurogenic urinary bladder;   urinary bladder neurogenic dysfunction
 primary_id: MESH:D001750
 xref: ICD9CM:596.54;   NCI:C79696
For additional species annotation, visit the Alliance of Genome Resources.

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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 Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Neurogenic bladder ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595 		JBrowse link
G Chrm2 cholinergic receptor muscarinic 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20624991 NCBI chrNW_004955494:5,845,581...5,975,614
Ensembl chrNW_004955494:5,847,156...5,848,556 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Neurogenic bladder ClinVar PMID:28017373 PMID:32366537 PMID:33956416 NCBI chrNW_004955477:7,435,324...7,557,212
Ensembl chrNW_004955477:7,434,482...7,556,504 		JBrowse link
G Ngf nerve growth factor treatment ISO associated with Meningomyelocele;protein:increased expression:urine
associated with Spinal Cord Injuries		 RGD PMID:22220508 PMID:23301927 RGD:7242771 RGD:7242776 NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059 		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: CHRNA3-related condition | ClinVar Annotator: match by term: Urinary bladder, atony of ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:31708116 NCBI chrNW_004955450:979,630...1,011,316
Ensembl chrNW_004955450:977,075...1,011,372 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          neurogenic bladder 5
            BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Urogenital Diseases 4392
        urinary system disease 2226
          bladder disease 392
            neurogenic bladder 5
              BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 1
paths to the root