xeroderma pigmentosum

autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair

Class type of: autosomal recessive disease, autosomal recessive cerebellar ataxia due to a DNA repair defect, syndrome Q612693

Facts

10 properties

Instance of: designated intractable/rare disease, rare disease, class of disease^[2]^[3]
Subclass of: autosomal recessive disease, autosomal recessive cerebellar ataxia due to a DNA repair defect, syndrome^[4]^[5]^[6]
Age of onset: any age^[20]
Described by source: Great Soviet Encyclopedia (1926–1947), The Unified Medical Dictionary (Librairie du Liban, 2009)^[8]^[9]
Genetic association: ERCC5, ERCC2, ERCC4, DDB2, ERCC3, POLH, XPA, XPC^[12]^[13]^[14]^[15]^[16]^[17]^[18]^[19]
Has phenotype: fever^[22]
Health specialty: medical genetics^[11]
NCI Thesaurus ID: C3452^[10]
On focus list of Wikimedia project: WikiProject Medicine^[21]
Prevalence: +0.000005^[7]

🏷️ Also known as

en Xeroderma pigmentosa en xeroderma pigmentosum en XP en Xeroderma Pigmentosum Syndrome en Angioma Pigmentosum Atrophicum en Atrophoderma Pigmentosum en Kaposi Dermatosis en Kaposi Disease en Melanosis Lenticularis Progressiva en Pigmented Epitheliomatosis en Xeroderma of Kaposi ar جفاف الجلد التصبغي ar جفاف الجلد المصطبغ cs XP el Μελαχρωματική ξηροδερμία es Xerodermia pigmentosa fa گزرودرما پیگمنتوزوم he קסרודרמה פיגמנטוזום it xeroderma pigmentoso ja 色素性乾皮症

🔖 Identifiers · 33

OpenAlex ID: C2778378917
Image (Wikimedia Commons): Xeroderma pigmentosum 02.jpg ↗
Disease Ontology ID: DOID:0050427
DiseasesDB: 14198
EMedicine ID: 1177889
Encyclopædia Britannica Online ID: science/xeroderma-pigmentosum
Encyclopædia Universalis ID: xeroderma-pigmentosum
Exact match: purl.obolibrary.org, identifiers.org, www.orpha.net
Freebase ID: /m/04hffy
GARD rare disease ID: 7910
Genetics Home Reference Conditions ID: xeroderma-pigmentosum
Great Russian Encyclopedia Online ID (2017): 2117253

Show all 33 identifiers +21

ICD-10-CM: Q82.1
ICD-11 ID (Foundation): 503.0M (503.0M–1.8B, n=3)
ICD-11 ID (MMS): LD27.1
ICD-9 ID: 757.33
JSTOR topic ID (archived): xeroderma-pigmentosum
KEGG ID: H01428
MeSH descriptor ID: D014983
MeSH tree code: C04.834.867, C16.131.831.936, C16.320.850.970, C17.800.600.925, C17.800.621.936, C17.800.804.936, C17.800.827.970, C18.452.284.975
MedlinePlus ID: 001467
Microsoft Academic ID (discontinued): 2778378917, 2909678046
Mondo ID: MONDO_0019600
OMIM ID: 194400
Orphanet ID: 910
Patientplus ID: Xeroderma-Pigmentosum
PatientsLikeMe condition ID: xeroderma-pigmentosum
Raras disease ID: D00910
UMLS CUI: C0043346
Wellcome Collection concept ID: td5pcurx
WikiProjectMed ID: Xeroderma pigmentosum
WikiSkripta article ID: 34762
WordNet 3.1 Synset ID: 14561337-n

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections

Genetic association 2

ERCC4, ERCC5

Subclass of 2

disease, syndrome

Health specialty 1

medical genetics

Instance of 1

rare disease

On focus list of Wikimedia project 1

WikiProject Medicine

Subtypes 1

DeSanctis–Cacchione syndrome

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Summary

xeroderma pigmentosum is a designated intractable/rare disease^[1].

References

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

Direct Wikidata claims

[2] ↑ xeroderma pigmentosum — instance of (P31): rare disease. wikidata.org.
[3] ↑ xeroderma pigmentosum — instance of (P31): class of disease. wikidata.org.
[4] ↑ xeroderma pigmentosum — subclass of (P279): autosomal recessive disease. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[5] ↑ xeroderma pigmentosum — subclass of (P279): autosomal recessive cerebellar ataxia due to a DNA repair defect. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[6] ↑ xeroderma pigmentosum — subclass of (P279): syndrome. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[7] ↑ xeroderma pigmentosum — prevalence (P1193): 0.000005. Retrieved 2026-10-23. wikidata.org.
[8] ↑ xeroderma pigmentosum — described by source (P1343): Great Soviet Encyclopedia (1926–1947). wikidata.org.
[9] ↑ xeroderma pigmentosum — described by source (P1343): The Unified Medical Dictionary (Librairie du Liban, 2009). wikidata.org.
[10] ↑ xeroderma pigmentosum — NCI Thesaurus ID (P1748): C3452. Disease Ontology. Retrieved 2018-07-11. wikidata.org.
[11] ↑ xeroderma pigmentosum — health specialty (P1995): medical genetics. wikidata.org.
[12] ↑ xeroderma pigmentosum — genetic association (P2293): ERCC5. The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. wikidata.org.
[13] ↑ xeroderma pigmentosum — genetic association (P2293): ERCC2. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. wikidata.org.
[14] ↑ xeroderma pigmentosum — genetic association (P2293): ERCC4. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. wikidata.org.
[15] ↑ xeroderma pigmentosum — genetic association (P2293): DDB2. Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. wikidata.org.
[16] ↑ xeroderma pigmentosum — genetic association (P2293): ERCC3. A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. wikidata.org.
[17] ↑ xeroderma pigmentosum — genetic association (P2293): POLH. Retrieved 2026-10-23. wikidata.org.
[18] ↑ xeroderma pigmentosum — genetic association (P2293): XPA. Retrieved 2026-10-23. wikidata.org.
[19] ↑ xeroderma pigmentosum — genetic association (P2293): XPC. Retrieved 2026-10-23. wikidata.org.
[20] ↑ xeroderma pigmentosum — age of onset (P2841): any age. Retrieved 2026-10-23. wikidata.org.
[21] ↑ xeroderma pigmentosum — on focus list of Wikimedia project (P5008): WikiProject Medicine. wikidata.org.
[22] ↑ xeroderma pigmentosum — has phenotype (P6532): fever. Retrieved 2026-10-23. wikidata.org.

Class ancestry

[1] ↑ xeroderma pigmentosum is an instance of designated intractable/rare disease (Q42303753) [P31, primary]. Wikidata. wikidata.org.

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MLA

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BibTeX

@misc{4ortxyz_xeroderma-pigmentosum_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{xeroderma pigmentosum}}, year = {2026}, url = {https://4ort.xyz/entity/xeroderma-pigmentosum}, note = {Accessed: 2026-11-12}}

LLM prompt

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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.

20d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗

Genetic association → ERCC5, ERCC2, ERCC4 +1

Prevalence → 0.000005

Age of onset → any age

Has phenotype → fever

+ 1 other property edited (see Wikidata diff for full list)

"Changed the item: QuickStatements 3.0 batch #61469: Raras.org data import"
6w ago · تامر · 2026-09-26 view diff on Wikidata ↗

Described by source → Great Soviet Encyclopedia (1926–1947), The Unified Medical Dictionary (Librairie du Liban, 2009)

"Created claim: Described by source: The Unified Medical Dictionary (Librairie du Liban, 2009)"
18w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Subclass of → autosomal recessive disease, autosomal recessive cerebellar ataxia due to a DNA repair de, syndrome

Health specialty → medical genetics

Genetic association → ERCC5, ERCC2, ERCC4 +1

Instance of → designated intractable/rare disease, rare disease, class of disease

+ 2 other properties edited (see Wikidata diff for full list)

"Changed the item: QuickStatements 3.0 batch #39732: rm redundant subclass"

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