transcobalamin II deficiency

vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII
rdfs:label
"transcobalamin II deficiency"@en
skos:altLabel "Inherited deficiency of transcobalamin"@en
"TCN2 deficiency"@en
"TRANSCOBALAMIN II DEFICIENCY"@en
"Tc 2 Deficiency"@en
"Transcobalamin deficiency"@en
schema:description
"vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII"@en
schema:dateModified "2026-10-24T00:39:24+00:00"^^xsd:dateTime
schema:version 2560167712
wikibase:identifiers 10
12
wikibase:sitelinks 0
wikibase:statements 38
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p:P2293 wd:statement/Q18553496-97614E63-8F79-4736-A71D-5560C8D6A531
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wd:statement/Q18553496-698CB856-D7A8-44BA-92AC-2D044DDC3938
p:P2888 wd:statement/Q18553496-BE740BAB-B5EB-4F4D-9BA9-8724BF952494
wd:statement/Q18553496-C74CF5BB-E9C0-40F0-9641-E35DD45E8754
wd:statement/Q18553496-E53BE851-A4D3-4374-A9CE-5C9E8B7A65A5
p:P2892 wd:statement/Q18553496-28B3D38A-4983-4EA5-BB74-6190680D6ACB
wd:statement/Q18553496-9D42B0DC-640E-46FD-8FC9-49CBF99C4BD7
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p:P4317 wd:statement/Q18553496-29798821-E9BB-4806-8B4E-9BD4BD4FB24B
p:P492 wd:statement/Q18553496-3ADD3F44-00C3-401F-A229-6C1DBC0E78E6
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p:P6532 wd:statement/Q18553496-202D5334-0C01-4F2F-87EC-6110E2BB7417
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wd:statement/Q18553496-7B75D57D-359C-4092-93FA-42AF16060000
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wd:statement/Q18553496-E557F73C-523E-4C67-98DD-33FCAF9EA3A5
p:P665 wd:statement/Q18553496-EADB96EA-96A4-4388-816C-56A730B48B5F
p:P699 wd:statement/Q18553496-8704F65D-89A4-4F84-B5B5-0C443B640193
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0010149>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01190>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0050818>
wdt:P11430 "DI-02378"
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D00859"
wdt:P1550 "859"
wdt:P1748 "C142806"
wdt:P2293 TCN2
wdt:P279 vitamin B12 deficiency
vitamin B12 deficiency anemia
syndrome with combined immunodeficiency
inborn disorder of cobalamin metabolism and transport
wdt:P2841 neonatal onset
infantile onset
wdt:P2888 <http://identifiers.org/doid/DOID:0050818>
<http://purl.obolibrary.org/obo/DOID_0050818>
<http://www.orpha.net/ORDO/Orphanet_859>
wdt:P2892 "C0342701"
"C1420653"
wdt:P31 type of disease
rare disease
wdt:P4229 "D51.2"
wdt:P4317 "12338"
wdt:P492 "275350"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0010149"
wdt:P6532 agammaglobulinemia
hepatomegaly
Decreased circulating IgM concentration
neutropenia
chromosome breakage
selective IgG deficiency disease
macrocytic anemia
irritability
acute kidney injury
lymphopenia
thrombocytopenia
immunoglobulin A deficiency
wdt:P665 "H01190"
wdt:P699 "DOID:0050818"
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