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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | PREECLAMPSIA/ECLAMPSIA 1 | |
| Synonyms |
HELLP PREG1 PEE1 HEMOLYSIS, ELEVATED LIVER ENZYMES, AND LOW PLATELET COUNT TOXEMIA OF PREGNANCY HYPERTENSION, PREGNANCY-INDUCED PEE |
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| ID |
http://purl.bioontology.org/ontology/OMIM/189800 |
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| altLabel |
HELLP PREG1 PEE1 HEMOLYSIS, ELEVATED LIVER ENZYMES, AND LOW PLATELET COUNT TOXEMIA OF PREGNANCY HYPERTENSION, PREGNANCY-INDUCED PEE
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|
| cui |
C4551893 C0852036 C0162739 C5574918
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| Gene Locus |
7q36
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|
| Gene Symbol |
NOS3
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU023809 http://purl.bioontology.org/ontology/OMIM/MTHU023812 http://purl.bioontology.org/ontology/OMIM/MTHU023811 http://purl.bioontology.org/ontology/OMIM/MTHU010581 http://purl.bioontology.org/ontology/OMIM/MTHU001305 |
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| MIMTYPEMEANING |
Mendelian phenotype or locus, molecular basis unknown.
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|
| notation |
189800
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| OMIM Entry Type |
5
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|
| OMIM MimType Value |
perc
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|
| prefLabel |
PREECLAMPSIA/ECLAMPSIA 1
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| Scope Statement |
Occurs in ~3% pregnancies in Western populations [MISCELLANEOUS] Clinical manifestation ranges from mild, transient hypertension to HELLP syndrome (Hemolysis, Elevated Liver enzymes, and Low platelets) [MISCELLANEOUS] Majority of cases are sporadic [MISCELLANEOUS]
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| tui |
T046 T047
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