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About:
molybdenum cofactor deficiency type B
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
associated with source
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New Facet based on Instances of this Class
Attributes
Values
type
Class
subClassOf
molybdenum cofactor deficiency
nodeID://b50944339
label
molybdenum cofactor deficiency type B
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0111163
database_cross_reference
MESH:C565373
OMIM:252160
ORDO:308393
SNOMEDCT_US_2021_09_01:1003368009
UMLS_CUI:C1854989
has_exact_synonym
molybdenum cofactor deficiency complementation group B
(en)
MOCOD type B
(en)
MOCODB
(en)
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B
(en)
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50944340
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