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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | SOLUTE CARRIER FAMILY 34 (TYPE II SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 1 | |
| Synonyms |
HYPERCALCEMIA, INFANTILE, 2 SLC34A1 RENAL SODIUM/PHOSPHATE TRANSPORT PROTEIN 2 SOLUTE CARRIER FAMILY 17, MEMBER 2, FORMERLY NaPi3 SLC17A2, FORMERLY SODIUM/PHOSPHATE TRANSPORT 2, KIDNEY NPT2 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 FANCONI RENOTUBULAR SYNDROME 2 |
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| ID |
http://purl.bioontology.org/ontology/OMIM/182309 |
|
| altLabel |
HYPERCALCEMIA, INFANTILE, 2 SLC34A1 RENAL SODIUM/PHOSPHATE TRANSPORT PROTEIN 2 SOLUTE CARRIER FAMILY 17, MEMBER 2, FORMERLY NaPi3 SLC17A2, FORMERLY SODIUM/PHOSPHATE TRANSPORT 2, KIDNEY NPT2 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 FANCONI RENOTUBULAR SYNDROME 2
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| cui |
C1420185 C3150652 C4310473 C2676786
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| Gene Locus |
5q35
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| Gene Symbol |
SLC17A2 NPHLOP1 HCINF2 SLC34A1 NPT2 FRTS2
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| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/182309.0003 http://purl.bioontology.org/ontology/OMIM/182309.0004 http://purl.bioontology.org/ontology/OMIM/182309.0001 http://purl.bioontology.org/ontology/OMIM/182309.0005 http://purl.bioontology.org/ontology/OMIM/182309.0009 http://purl.bioontology.org/ontology/OMIM/182309.0007 http://purl.bioontology.org/ontology/OMIM/182309.0008 |
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| MIMTYPEMEANING |
Gene with known sequence
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|
| notation |
182309
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| OMIM Entry Type |
1
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| OMIM MimType Value |
star
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| prefLabel |
SOLUTE CARRIER FAMILY 34 (TYPE II SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 1
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|
| tui |
T047 T028
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| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping
| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C562999 | MESH | CUI |
| http://purl.bioontology.org/ontology/MESH/C567363 | MESH | CUI |