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loading...| Preferred Name |
hepatic methionine adenosyltransferase deficiency |
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| Synonyms |
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| Definitions |
A metabolic disorder usually inherited in an autosomal recessive pattern and caused by mutations in the MAT1A gene. Affected individuals usually do not have clinical abnormalities. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0009069 |
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| database_cross_reference |
NCIt:C123435 |
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| definition |
A metabolic disorder usually inherited in an autosomal recessive pattern and caused by mutations in the MAT1A gene. Affected individuals usually do not have clinical abnormalities. |
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| label |
hepatic methionine adenosyltransferase deficiency |
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| prefixIRI |
efo1:EFO_0009069 |
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| prefLabel |
hepatic methionine adenosyltransferase deficiency |
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| term editor |
Hannah McLaren |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/SNMI/D6-B4310 | SNMI | LOOM | |
| http://purl.bioontology.org/ontology/RCD/XE11A | RCD | LOOM | |
| http://purl.bioontology.org/ontology/SNOMEDCT/57835009 | SNOMEDCT | LOOM |