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Ontology Browser

Term:
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (DOID:9001213)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
CAKUT +     
neurogenic bladder +     
Argyll Robertson pupil 
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT  
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.
CAKUT1  
CAKUT2  
CAKUT3  
diabetic autonomic neuropathy 
Horner's syndrome +  
renal coloboma syndrome  

Synonyms
Exact Synonyms: ACONTRACTILE DETRUSOR ;   BAIPRCK ;   URINARY BLADDER, ATONY OF
Broad Synonyms: CHRNA3-RELATED CONDITION
Primary IDs: OMIM:191800
Definition Sources: OMIM:191800

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