WormBase Tree Display for DO_term: DOID:12712
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DOID:12712 | Name | nephronophthisis | |
---|---|---|---|
Status | Valid | ||
Definition | A 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). | ||
Comment | Xref MGI. | ||
Synonym | Exact | medullary cystic disease | |
medullary cystic kidney | |||
Parent | Is_a | DOID:557 | |
DOID:0050737 | |||
Child | Is (16) | ||
Disease_model_annotation | WBDOannot00000123 | ||
WBDOannot00000124 | |||
WBDOannot00000138 | |||
WBDOannot00000508 | |||
WBDOannot00000518 | |||
WBDOannot00000519 | |||
Attribute_of | Gene_by_biology | WBGene00011261 | |
WBGene00022696 | |||
WBGene00010898 | |||
WBGene00019364 | |||
Gene_by_orthology | WBGene00007490 | ||
WBGene00010898 | |||
WBGene00011261 | |||
WBGene00018042 | |||
Disease_model_variation | WBVar00091788 | ||
WBVar00249947 | |||
WBVar00145871 | |||
Disease_model_genotype | WBGenotype00000007 | ||
WBGenotype00000023 |