SHMARQL

CD40 deficiency

<http://www.wikidata.org/entity/Q5957519>

Human disease
rdfs:label
"CD40 deficiency"@en
skos:altLabel
"HIGM3"@en
"Hyper IgM syndrome 3"@en
"Hyper-IgM Syndrome 3"@en
"IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3"@en
"IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3"@en
"Immunodeficiency with hyper IgM type 3"@en
"hyper-IgM syndrome due to CD40 deficiency"@en
"immunodeficiency with hyper-IgM type 3"@en
"type 3 hyper-IgM immunodeficiency"@en
schema:description
"Human disease"@en
schema:dateModified "2026-10-23T23:18:29+00:00"^^xsd:dateTime
schema:version 2560152209
wikibase:identifiers 12
14
wikibase:sitelinks 2
wikibase:statements 26
p:P11430 wd:statement/Q5957519-87573562-4f92-45a4-b942-87050263bab5
p:P14914 wd:statement/Q5957519-ED0C9BC3-4030-4E1F-B67B-A1520AC997FB
p:P1550 wd:statement/Q5957519-1B1D100D-42D2-4AA4-9E75-D9F9BEA8886D
p:P1748 wd:statement/Q5957519-0FC6A8A7-A98D-4746-8F7F-AEB69B199D51
p:P1995 wd:statement/Q5957519-25F5451B-612E-4389-9E3A-64AFFA142ABE
p:P2293 wd:statement/Q5957519-1FE91F8D-1DE6-42A7-82AE-4DFF0A9DE1F7
p:P2581 wd:statement/Q5957519-2582570B-6E8F-464A-9624-63D7B36B68BB
p:P279 wd:statement/Q5957519-19B9D4E0-32BE-43D9-A7E9-74420264A407
wd:statement/Q5957519-63D1D862-B9B6-40CD-9CB3-1BA1A3DAF45E
wd:statement/Q5957519-91c8830e-44c1-5360-2831-c1feda32a2da
p:P2888 wd:statement/Q5957519-A5659C09-27D2-46DC-927E-A7AD0723169F
wd:statement/Q5957519-B0ECD1B0-C4DB-4C2E-A255-D6E75B2E72FE
wd:statement/Q5957519-B981016B-CB8B-4B50-98B8-69F2CD33F630
wd:statement/Q5957519-D7750C91-2CBD-4F8F-A5BC-F685ECE71755
p:P2892 wd:statement/Q5957519-142C0CA8-F335-4E76-9BD8-AE9087554F12
p:P31 wd:statement/Q5957519-63282195-1E1A-4347-9098-32B550F35812
wd:statement/Q5957519-A495B643-5A74-4196-91FB-3EBFBF63D5E8
p:P3201 wd:statement/Q5957519-30AD97C0-B312-4E4A-9A20-238402639530
p:P4229 wd:statement/Q5957519-1BDE60A2-01AF-4677-BAB4-010AA91E276A
p:P4317 wd:statement/Q5957519-7A874A72-2FB7-4654-9D01-36689610753B
p:P492 wd:statement/Q5957519-97B18538-A7FD-4038-84E2-8C13BF2D81A7
p:P493 wd:statement/q5957519-6D0BF96D-5F29-4737-A632-691648F9FC44
p:P494 wd:statement/q5957519-E88E2E02-4280-40B0-AC22-B531FCC9AD71
p:P5008 wd:statement/Q5957519-1EE530A6-1436-48AD-908C-801EF53D03B5
p:P5270 wd:statement/Q5957519-9A6FCDCE-309D-4632-833A-1BADFEDE4B21
p:P699 wd:statement/Q5957519-B6299669-0F67-41CB-9561-FD40229E24BA
p:direct-normalized/P2581 <http://babelnet.org/rdf/s01209632n>
p:direct-normalized/P3201 <http://purl.bioontology.org/ontology/MDRFRE/10021462>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0011735>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0060023>
wdt:P11430 "DI-01763"
wdt:P14914 "D101090"
wdt:P1550 "101090"
wdt:P1748 "C84783"
wdt:P1995 hematology
wdt:P2293 CD40
wdt:P2581 "01209632n"
wdt:P279 autosomal recessive disease
hyper IgM syndrome
combined immunodeficiency
wdt:P2888 <http://identifiers.org/doid/DOID:0060023>
<http://purl.obolibrary.org/obo/DOID_0060023>
<http://www.orpha.net/ORDO/Orphanet_101090>
<http://www.orpha.net/ORDO/Orphanet_183663>
wdt:P2892 "C1720957"
wdt:P31 type of disease
rare disease
wdt:P3201 "10021462"
wdt:P4229 "D80.5"
wdt:P4317 "10579"
wdt:P492 "606843"
wdt:P493 "279.05"
wdt:P494 "D80.5"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0011735"
wdt:P699 "DOID:0060023"
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data from SPARQL profile: Wikidata