molybdenum cofactor deficiency type B

molybdenum cofactor deficiency type B

http://purl.obolibrary.org/obo/DOID_0111163

A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/10053004 ]

Synonyms: MOCODB MOCOD type B combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B molybdenum cofactor deficiency complementation group B

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This is just here as a test because I lose it

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database cross reference

SNOMEDCT_US_2023_03_01:1003368009
MIM:252160
UMLS_CUI:C1854989
ORDO:308393
MESH:C565373

Subsets

DO_rare_slim

acronym

MOCODB

has obo namespace

disease_ontology

DOID:0111163

Term relations

Subclass of:

molybdenum cofactor deficiency
disease has basis in some structural_variant