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loading...| Preferred Name |
NEPHROLITHIASIS, CALCIUM OXALATE |
| Synonyms |
UROLITHIASIS, CALCIUM OXALATE |
| ID |
http://purl.bioontology.org/ontology/OMIM/167030 |
| altLabel |
UROLITHIASIS, CALCIUM OXALATE CAON KIDNEY STONES |
| cui |
C0022650 C1833683 |
| Gene Locus |
4p16.3 |
| Gene Symbol |
SAT1 CAON SLC26A1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU053502 http://purl.bioontology.org/ontology/OMIM/MTHU008668 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
167030 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
NEPHROLITHIASIS, CALCIUM OXALATE |
| Scope Statement |
One patient has been reported (last curated June 2016) [MISCELLANEOUS] Caused by mutation in the solute carrier family 26 (sulfate transporter), member 1 gene (SLC26A1, 610130.0001) [MOLECULAR BASIS] Onset in childhood [MISCELLANEOUS] |
| tui |
T047 |
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