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 |