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Cell Culture Ontology
Last uploaded:
July 23, 2014
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| Preferred Name | hyperhomocysteinemia | |
| Synonyms |
homocysteinemia hyperhomocysteinemia |
|
| Definitions |
A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0004743 |
|
| database_cross_reference |
OMIM:603174 SCTID:419503008 UMLS:C0598608 MESH:D020138 MEDGEN:108623 NCIT:C84770 DOID:9279 GARD:8230
|
|
| definition |
A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.
|
|
| has_exact_synonym |
homocysteinemia hyperhomocysteinemia
|
|
| IAO_0000233 | ||
| id |
MONDO:0004743
|
|
| in_subset | ||
| label |
hyperhomocysteinemia
|
|
| notation |
MONDO:0004743
|
|
| preferred label |
hyperhomocysteinemia
|
|
| prefLabel |
hyperhomocysteinemia
|
|
| see also |
https://rarediseases.info.nih.gov/diseases/8230/homocysteinemia |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C84770 http://identifiers.org/medgen/108623 http://purl.obolibrary.org/obo/DOID_9279 http://identifiers.org/snomedct/419503008 |
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| subClassOf |
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