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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
nephronophthisis +     
nephronophthisis 1  
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. (DO)
nephronophthisis 11  
nephronophthisis 12  
nephronophthisis 13  
nephronophthisis 14  
nephronophthisis 15  
nephronophthisis 16  
nephronophthisis 18  
nephronophthisis 19  
nephronophthisis 2  
nephronophthisis 20  
nephronophthisis 3  
nephronophthisis 4  
nephronophthisis 7  
nephronophthisis 9  
nephronophthisis-like nephropathy 1  
Nephronophthisis-like Nephropathy 2  

Synonyms
Exact Synonyms: NPH1 ;   NPHP1 ;   Nephronophthisis, Familial Juvenile ;   juvenile nephronophthisis ;   juvenile nephronophthisis 1 ;   type 1 nephronophthisis
Xrefs: MESH:C537699 ;   MIM:256100 ;   MONDO:0009728 ;   NCI:C74998
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/9326933 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9361039 "DO" "DO"

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