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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
CAKUT +     
genetic disease +     
hydronephrosis +     
Multicystic Dysplastic Kidney +     
ureteral obstruction +     
ureteropelvic junction obstruction +     
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alpha-2-Deficient Collagen Disease 
Aquaporin 1 Deficiency  
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
Au-Kline Syndrome  
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT  
BOCKENHEIMER SYNDROME  
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
CADASIL +   
CAKUT1  
CAKUT2  
A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. (DO)
CAKUT3  
Campomelia Cumming Type 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
chromosomal disease +   
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
Congenital Hepatic Fibrosis  
Congenital Pain Insensitivity +   
desquamative interstitial pneumonia  
Dwarfism +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
frontotemporal dementia and/or amyotrophic lateral sclerosis 3  
frontotemporal dementia and/or amyotrophic lateral sclerosis 4  
Genetic Skin Diseases +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies +   
Marfan syndrome +   
monogenic disease +   
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Nervous System Heredodegenerative Disorders +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
polygenic disease +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Pyonephrosis 
renal coloboma syndrome  
Sacral Agenesis with Vertebral Anomalies  
ureteropelvic junction obstruction +   
Urethral Obstruction Sequence 

Synonyms
Exact Synonyms: Congenital anomalies of the kidney and urinary tract 2 ;   Hydronephrosis Due To Pujo ;   MCRD ;   Multicystic Renal Dysplasia, Bilateral ;   PUJO ;   Pelvi-ureteric junction obstruction ;   Pelviureteric Junction Obstruction ;   UPJO ;   congenital anomalies of kidney and urinary tract 2
Broad Synonyms: TBX18-related condition
Related Synonyms: ureteropelvic junction obstruction
Primary IDs: MESH:C537373
Alternate IDs: MIM:143400
Definition Sources: PMID:26235987 "DO" "DO"

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