loading...| Preferred Name | CHLORIDE CHANNEL 5 | |
| Synonyms |
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE CHLORIDE CHANNEL, VOLTAGE-GATED, K2 NEPHROLITHIASIS, X-LINKED RECESSIVE CLC5 CLCK2 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS CLCN5 DENT DISEASE 1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/300008 |
|
| altLabel |
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE CHLORIDE CHANNEL, VOLTAGE-GATED, K2 NEPHROLITHIASIS, X-LINKED RECESSIVE CLC5 CLCK2 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS CLCN5 DENT DISEASE 1 |
|
| cui |
C1845168 C1848336 C1413454 C0878681 C1839874 |
|
| Gene Locus |
Xp11.22 |
|
| Gene Symbol |
NPHL2 NPHL1 CLCK2 DENT1 CLCN5 |
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/300008.0012 http://purl.bioontology.org/ontology/OMIM/300008.0014 http://purl.bioontology.org/ontology/OMIM/300008.0011 http://purl.bioontology.org/ontology/OMIM/300008.0010 http://purl.bioontology.org/ontology/OMIM/300008.0013 http://purl.bioontology.org/ontology/OMIM/300008.0008 http://purl.bioontology.org/ontology/OMIM/300008.0007 http://purl.bioontology.org/ontology/OMIM/300008.0009 http://purl.bioontology.org/ontology/OMIM/300008.0003 http://purl.bioontology.org/ontology/OMIM/300008.0005 http://purl.bioontology.org/ontology/OMIM/300008.0006 http://purl.bioontology.org/ontology/OMIM/300008.0001 |
|
| MIMTYPEMEANING |
Gene with known sequence |
|
| Moved from |
600260 |
|
| notation |
300008 |
|
| OMIM Entry Type |
1 |
|
| OMIM MimType Value |
star |
|
| prefLabel |
CHLORIDE CHANNEL 5 |
|
| tui |
T047 T028 |