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Ontology Browser

Term:
nephronophthisis 14 (DOID:0111122)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Joubert syndrome +     
nephronophthisis +     
Joubert syndrome 1  
Joubert syndrome 10  
Joubert Syndrome 12  
Joubert Syndrome 13  
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 16  
Joubert Syndrome 17  
Joubert Syndrome 18  
Joubert Syndrome 2  
Joubert syndrome 20  
Joubert syndrome 21  
Joubert Syndrome 22  
Joubert Syndrome 23  
Joubert syndrome 24  
Joubert Syndrome 25  
Joubert Syndrome 26  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 29 
Joubert syndrome 3  
Joubert syndrome 30  
Joubert syndrome 31  
Joubert syndrome 32  
Joubert syndrome 33  
JOUBERT SYNDROME 35  
Joubert Syndrome 36  
Joubert syndrome 4  
Joubert syndrome 5  
Joubert syndrome 6  
Joubert syndrome 7  
Joubert syndrome 8  
Joubert syndrome 9  
Joubert syndrome with orofaciodigital defect  
Meckel Syndrome, Type 10  
nephronophthisis 1  
nephronophthisis 11  
nephronophthisis 12  
nephronophthisis 13  
nephronophthisis 14  
A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1. (DO)
nephronophthisis 15  
nephronophthisis 16  
nephronophthisis 18  
nephronophthisis 19  
nephronophthisis 2  
nephronophthisis 20  
nephronophthisis 3  
nephronophthisis 4  
nephronophthisis 7  
nephronophthisis 9  
nephronophthisis-like nephropathy 1  

Synonyms
Exact Synonyms: NPHP14
Narrow Synonyms: JBTS19 ;   JOUBERT SYNDROME 19
Primary IDs: OMIM:614844 ;   RDO:9000604
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22863007 "DO"

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