loading...| Preferred Name |
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 |
| Synonyms |
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2 |
| ID |
http://purl.bioontology.org/ontology/OMIM/613092 |
| altLabel |
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2 HNFJ2 ADTKD4 EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE |
| cui |
C2751310 |
| Gene Locus |
1q32 |
| Gene Symbol |
ADTKD4 REN RTD |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU039329 http://purl.bioontology.org/ontology/OMIM/MTHU039335 http://purl.bioontology.org/ontology/OMIM/MTHU004766 http://purl.bioontology.org/ontology/OMIM/MTHU039333 http://purl.bioontology.org/ontology/OMIM/MTHU039331 http://purl.bioontology.org/ontology/OMIM/MTHU002640 http://purl.bioontology.org/ontology/OMIM/MTHU034721 http://purl.bioontology.org/ontology/OMIM/MTHU039330 http://purl.bioontology.org/ontology/OMIM/MTHU020418 |
| 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] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C567760 | Medical Subject Headings / 医学主题词表 | CUI |