Search Ontology:
Human Disease
molybdenum cofactor deficiency type A
- Term ID
- DOID:0111164
- Synonyms
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- combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
- MOCOD type A
- MOCODA
- molybdenum cofactor deficiency complementation group A
- Definition
- A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/9731530
- References
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- MESH:C565372
- MIM:252150
- ORDO:308386
- SNOMEDCT_US_2023_03_01:1003367004
- UMLS_CUI:C1854988
- Ontology
- Human Disease ( DOID:0111164 )
- is a type of
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Genes Involved
Zebrafish Models