Search Ontology:
Human Disease
molybdenum cofactor deficiency type B
- Term ID
- DOID:0111163
- Synonyms
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- combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B
- MOCOD type B
- MOCODB
- molybdenum cofactor deficiency complementation group B
- Definition
- A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. https://www.ncbi.nlm.nih.gov/pubmed/10053004
- References
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- MESH:C565373
- MIM:252160
- ORDO:308393
- SNOMEDCT_US_2023_03_01:1003368009
- UMLS_CUI:C1854989
- Ontology
- Human Disease ( DOID:0111163 )
- is a type of
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Genes Involved
Zebrafish Models