loading...| Preferred Name |
molybdenum cofactor deficiency |
|
| Synonyms |
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase MOCOD |
|
| Definitions |
A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0111165 |
|
| database_cross_reference |
OMIM:PS252150 MESH:C535811 ICD10CM:E72.1 GARD:3705 ORDO:99732 |
|
| definition |
A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. |
|
| has exact synonym |
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase MOCOD |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111165 |
|
| in_subset | ||
| label |
molybdenum cofactor deficiency |
|
| notation |
DOID:0111165 |
|
| prefLabel |
molybdenum cofactor deficiency |
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| subClassOf |