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loading...| Preferred Name | HYPERPARATHYROIDISM 1 | |
| Synonyms |
HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY PARATHYROID ADENOMA, FAMILIAL FIHP HRPT1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/145000 |
|
| altLabel |
HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY PARATHYROID ADENOMA, FAMILIAL FIHP HRPT1 |
|
| cui |
C1840402 C4551961 C1840403 |
|
| Gene Locus |
1q25-q31 |
|
| Gene Symbol |
HRPT2 C1orf28 CDC73 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU056899 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
145000 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HYPERPARATHYROIDISM 1 |
|
| Scope Statement |
Caused by mutation in the homolog of S cerevisiae cell division cycle protein-73 gene (CDC73, 607393.0004) [MOLECULAR BASIS] |
|
| tui |
T047 |
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