PMO Precision Medicine Ontology

Last uploaded: December 16, 2020

Id	http://www.phoc.org.cn/pmo/class/PMO_00007941 http://www.phoc.org.cn/pmo/class/PMO_00007941
Preferred Name	Nephronophthisis
Definitions	Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.
Type	http://www.w3.org/2002/07/owl#Class

label	Nephronophthisis
prefLabel	Nephronophthisis
Synonym	Autos recess medull cystic dis Medullary cystic disease Familial juvenile medullary cystic kidney disease cystic kidneys medullary medullary cystic kidney disease Familial juvenile nephronophthisis Nephronophthisis (disorder) Medullary cystic disease NOS Medullary cystic disease NOS (disorder) Fam juven medull cystic kidney Familial juvenile nephrophthisis Medullary cystic kidney NEPHRONOPTHISIS, FAMILIAL JUVENILE Nephronopthisis cystic disease medullary Nephronophthisis Medullary cystic disease of the kidney juvenile nephronophthisis Autosomal recessive medullary cystic disease See more See less
Definition	Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.
PMOID	PMO:00007941
MCID	MC00226846
prefixIRI	pmo:PMO_00007941
Database_Cross_Reference	OMIM:MTHU000621 SNM:M-26760 MTH:NOCODE SNMI:D4-71340 RCD:PD120 MTHICD9:753.16 SNOMEDCT_US:204958008 DO:DOID:12712 HPO:HP:0000090 CHV:0000044076 SNM:M-26770 CHV:0000034171 DXP:NOCODE ICD10CM:Q61.5 NCI_NICHD:C123200 SNOMEDCT_US:204961009 NCI:C123200 HPO:HP:0008659 MDR:10066248 See more See less
Tree Number	T3.3.1.2.2.1.7.3
subClassOf	http://www.phoc.org.cn/pmo/class/PMO_00007934
type	http://www.w3.org/2002/07/owl#Class

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