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WormBase Tree Display for DO_term: DOID:12712

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Name Class

DOID:12712Namenephronophthisis
StatusValid
DefinitionA kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
CommentXref MGI.
SynonymExactmedullary cystic disease
medullary cystic kidney
ParentIs_aDOID:557
DOID:0050737
ChildIs (16)
Disease_model_annotationWBDOannot00000123
WBDOannot00000124
WBDOannot00000138
WBDOannot00000508
WBDOannot00000518
WBDOannot00000519
Attribute_ofGene_by_biologyWBGene00011261
WBGene00022696
WBGene00010898
WBGene00019364
Gene_by_orthologyWBGene00007490
WBGene00010898
WBGene00011261
WBGene00018042
Disease_model_variationWBVar00091788
WBVar00249947
WBVar00145871
Disease_model_genotypeWBGenotype00000007
WBGenotype00000023