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loading...| Preferred Name |
PREMATURE OVARIAN FAILURE 1 |
|
| Synonyms |
FRAGILE X PREMATURE OVARIAN FAILURE HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED POFX OVARIAN FAILURE, PREMATURE PREMATURE OVARIAN FAILURE, X-LINKED POF POF1 |
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| ID |
http://purl.bioontology.org/ontology/OMIM/311360 |
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| altLabel |
FRAGILE X PREMATURE OVARIAN FAILURE HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED POFX OVARIAN FAILURE, PREMATURE PREMATURE OVARIAN FAILURE, X-LINKED POF POF1 |
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| cui |
C3494522 C4552079 C0085215 |
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| Gene Locus |
Xq27.3 |
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| Gene Symbol |
FMR1 FRAXA POF1 |
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| Has manifestation | ||
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
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| Moved from |
176440 |
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| notation |
311360 |
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| OMIM Entry Type |
3 |
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| OMIM MimType Value |
pound |
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| prefLabel |
PREMATURE OVARIAN FAILURE 1 |
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| Scope Statement |
Caused by mutation in the fragile X messenger ribonucleoprotein gene (FMR1, 309550.0004) [MOLECULAR BASIS] |
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| tui |
T047 |
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