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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/143400
http://purl.bioontology.org/ontology/OMIM/143400
|
|---|---|
| Preferred Name | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 |
| Synonyms |
PELVIURETERIC JUNCTION OBSTRUCTION
MCRD
UPJO
PUJO
MULTICYSTIC RENAL DYSPLASIA, BILATERAL
CAKUT2
URETEROPELVIC JUNCTION OBSTRUCTION
HYDRONEPHROSIS DUE TO PUJO
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PELVIURETERIC JUNCTION OBSTRUCTION
MCRD
UPJO
PUJO
MULTICYSTIC RENAL DYSPLASIA, BILATERAL
CAKUT2
URETEROPELVIC JUNCTION OBSTRUCTION
HYDRONEPHROSIS DUE TO PUJO
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|
|---|---|
| prefLabel | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
|
| Gene Symbol |
CAKUT2
TBX18
|
| Scope Statement | Four unrelated families have been reported (last curated September 2015) [MISCELLANEOUS]
Caused by mutation in the T-box 18 gene (TBX18, 604613.0001) [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
Some patients may be asymptomatic [MISCELLANEOUS]
Variable age at onset (range prenatal to mid-adulthood) [MISCELLANEOUS]
Some patients may need surgery or renal transplant [MISCELLANEOUS]
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|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 6q14.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 143400
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1840451
C5574705
C4048262
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |