severe combined immunodeficiency due to LCK deficiency

human disease

MedicalCondition rare_disease Q55784784

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severe combined immunodeficiency due to LCK deficiency

Summary

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

Key Facts

severe combined immunodeficiency due to LCK deficiency's instance of is recorded as rare disease^[2].
severe combined immunodeficiency due to LCK deficiency's instance of is recorded as class of disease^[3].
severe combined immunodeficiency due to LCK deficiency is a type of T-B- severe combined immunodeficiency^[4].
severe combined immunodeficiency due to LCK deficiency is a type of autosomal recessive disease^[5].
severe combined immunodeficiency due to LCK deficiency is a type of severe combined immunodeficiency^[6].
severe combined immunodeficiency due to LCK deficiency's genetic association is recorded as LCK^[7].
severe combined immunodeficiency due to LCK deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_280142^[8].
severe combined immunodeficiency due to LCK deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111937^[9].
severe combined immunodeficiency due to LCK deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0111937^[10].

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Quick Facts

Instance of rare disease, class of disease

Subclass of T-B- severe combined immunodeficiency, autosomal recessive disease, severe combined immunodeficiency

Properties

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

Genetic association LCK

External References (7)

Disease ontology id DOID:0111937

Icd-10-cm D81.1

Mondo id MONDO_0014334

Omim id 615758

Orphanet id 280142

Umls cui C4014233, C5191006

Uniprot disease id DI-04079

References

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

Direct Wikidata claims

[2] ↑ severe combined immunodeficiency due to LCK deficiency — instance of (P31): rare disease. wikidata.org.
[3] ↑ severe combined immunodeficiency due to LCK deficiency — instance of (P31): class of disease. wikidata.org.
[4] ↑ severe combined immunodeficiency due to LCK deficiency — subclass of (P279): T-B- severe combined immunodeficiency. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[5] ↑ severe combined immunodeficiency due to LCK deficiency — subclass of (P279): autosomal recessive disease. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[6] ↑ severe combined immunodeficiency due to LCK deficiency — subclass of (P279): severe combined immunodeficiency. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[7] ↑ severe combined immunodeficiency due to LCK deficiency — genetic association (P2293): LCK. Defective expression of p56lck in an infant with severe combined immunodeficiency. Retrieved 2023-08-24. platform.opentargets.org. Provenance: wikidata.org.
[8] ↑ severe combined immunodeficiency due to LCK deficiency — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_280142. wikidata.org.
[9] ↑ severe combined immunodeficiency due to LCK deficiency — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0111937. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[10] ↑ severe combined immunodeficiency due to LCK deficiency — exact match (P2888): http://identifiers.org/doid/DOID:0111937. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

[1] ↑ severe combined immunodeficiency due to LCK 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). severe combined immunodeficiency due to LCK deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/severe-combined-immunodeficiency-due-to-lck-deficiency

MLA

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

BibTeX

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

LLM prompt

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

Canonical URL: https://4ort.xyz/entity/severe-combined-immunodeficiency-due-to-lck-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.

8h ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗

Mondo id → MONDO_0014334

Imported from → —

Umls cui → C4014233, C5191006

Disease ontology id → DOID:0111937

+ 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.