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

altLabel

homocysteinemia

hyperhomocysteinemia

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

https://github.com/monarch-initiative/mondo/issues/3247

label

hyperhomocysteinemia

prefixIRI

MONDO:0004743

prefLabel

hyperhomocysteinemia

seeAlso

https://rarediseases.info.nih.gov/diseases/8230/homocysteinemia

textual 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.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0004737

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