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About:
hemochromatosis type 3
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
associated with source
document(s)
New Facet based on Instances of this Class
Attributes
Values
type
Class
subClassOf
hemochromatosis
nodeID://b50944080
label
hemochromatosis type 3
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0111030
database_cross_reference
GARD:10093
MESH:C537248
OMIM:604250
ORDO:225123
SNOMEDCT_US_2021_09_01:719974003
UMLS_CUI:C1858664
has_exact_synonym
HFE3
(en)
TFR2-related hemochromatosis
(en)
hemochromatosis due to defect in transferrin receptor 2
(en)
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50944081
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