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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 | |
| Synonyms |
ADTKD4 HNFJ2 EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/613092 |
|
| altLabel |
ADTKD4 HNFJ2 EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2
|
|
| cui |
C2751310
|
|
| Gene Locus |
1q32
|
|
| Gene Symbol |
RTD ADTKD4 REN
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU034721 http://purl.bioontology.org/ontology/OMIM/MTHU039333 http://purl.bioontology.org/ontology/OMIM/MTHU039329 http://purl.bioontology.org/ontology/OMIM/MTHU039331 http://purl.bioontology.org/ontology/OMIM/MTHU039335 http://purl.bioontology.org/ontology/OMIM/MTHU039332 http://purl.bioontology.org/ontology/OMIM/MTHU004766 http://purl.bioontology.org/ontology/OMIM/MTHU039334 http://purl.bioontology.org/ontology/OMIM/MTHU039330 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
613092
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4
|
|
| Scope Statement |
Caused by mutation in the renin gene (REN, 179820.0004) [MOLECULAR BASIS] Normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe [MISCELLANEOUS]
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|
| tui |
T047
|
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C567760 | MESH | CUI |