loading...| Preferred Name |
Nephronophthisis |
|
| Synonyms |
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|
| Definitions |
Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00007941 |
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| 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 |
|
| Definition |
Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. |
|
| label |
Nephronophthisis |
|
| MCID |
MC00226846 |
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| PMOID |
PMO:00007941 |
|
| prefixIRI |
pmo:PMO_00007941 |
|
| 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 |
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| Tree Number |
T3.3.1.2.2.1.7.3 |
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| subClassOf |