combined immunodeficiency due to MALT1 deficiency

human disease

MedicalCondition rare_disease Q55784729

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combined immunodeficiency due to MALT1 deficiency

Summary

combined immunodeficiency due to MALT1 deficiency is a rare disease^[1].

Key Facts

combined immunodeficiency due to MALT1 deficiency's instance of is recorded as rare disease^[2].
combined immunodeficiency due to MALT1 deficiency's instance of is recorded as class of disease^[3].
combined immunodeficiency due to MALT1 deficiency is a type of non-severe combined immunodeficiency^[4].
combined immunodeficiency due to MALT1 deficiency is a type of autosomal recessive disease^[5].
combined immunodeficiency due to MALT1 deficiency is a type of combined immunodeficiency^[6].
combined immunodeficiency due to MALT1 deficiency's genetic association is recorded as MALT1^[7].
combined immunodeficiency due to MALT1 deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_397964^[8].
combined immunodeficiency due to MALT1 deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111988^[9].
combined immunodeficiency due to MALT1 deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0111988^[10].

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Quick Facts

Instance of rare disease, class of disease

Subclass of non-severe combined immunodeficiency, autosomal recessive disease, combined immunodeficiency

Properties

Exact match www.orpha.net, purl.obolibrary.org, identifiers.org

Genetic association MALT1

External References (7)

Disease ontology id DOID:0111988

Icd-10-cm D81.8

Mondo id MONDO_0014197

Omim id 615468

Orphanet id 397964

Umls cui C3809583

Uniprot disease id DI-03911

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

[2] ↑ combined immunodeficiency due to MALT1 deficiency — instance of (P31): rare disease. wikidata.org.
[3] ↑ combined immunodeficiency due to MALT1 deficiency — instance of (P31): class of disease. wikidata.org.
[4] ↑ combined immunodeficiency due to MALT1 deficiency — subclass of (P279): non-severe combined immunodeficiency. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[5] ↑ combined immunodeficiency due to MALT1 deficiency — subclass of (P279): autosomal recessive disease. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[6] ↑ combined immunodeficiency due to MALT1 deficiency — subclass of (P279): combined immunodeficiency. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[7] ↑ combined immunodeficiency due to MALT1 deficiency — genetic association (P2293): MALT1. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. Retrieved 2023-08-24. platform.opentargets.org. Provenance: wikidata.org.
[8] ↑ combined immunodeficiency due to MALT1 deficiency — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_397964. wikidata.org.
[9] ↑ combined immunodeficiency due to MALT1 deficiency — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0111988. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[10] ↑ combined immunodeficiency due to MALT1 deficiency — exact match (P2888): http://identifiers.org/doid/DOID:0111988. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

[1] ↑ combined immunodeficiency due to MALT1 deficiency is an instance of rare disease (Q929833) [P31, primary]. Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA

4ort.xyz Knowledge Graph. (2026). combined immunodeficiency due to MALT1 deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/combined-immunodeficiency-due-to-malt1-deficiency

MLA

“combined immunodeficiency due to MALT1 deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/combined-immunodeficiency-due-to-malt1-deficiency.

BibTeX

@misc{4ortxyz_combined-immunodeficiency-due-to-malt1-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{combined immunodeficiency due to MALT1 deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/combined-immunodeficiency-due-to-malt1-deficiency}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): combined immunodeficiency due to MALT1 deficiency — https://4ort.xyz/entity/combined-immunodeficiency-due-to-malt1-deficiency (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/combined-immunodeficiency-due-to-malt1-deficiency · Last refreshed: May 3, 2026

Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

2d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗

Mondo id → MONDO_0014197

Imported from → —

Umls cui → C3809583

Disease ontology id → DOID:0111988

+ 9 other properties edited (see Wikidata diff for full list)

"/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"

Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.