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hypohidrotic ectodermal dysplasia

human disease
Class type of: ectodermal dysplasia Q1077955

Facts

8 properties
Instance of
rare disease, class of disease[2]
Subclass of
ectodermal dysplasia[3]
Age of onset
infantile onset, neonatal onset[18][19]
Genetic association
EDA, IKBKG, EDAR, CSTB, LRP6, NFKBIA, TRAF6, WNT10A, EDARADD, EDA2R, KDF1[7][8][9][10][11][12][13][14][15][16][17]
Health specialty
medical genetics[6]
NCI Thesaurus ID
C84562[5]
On focus list of Wikimedia project
WikiProject Medicine[20]
Prevalence
+0.00005[4]
🏷️ Also known as
en Ectodermal Dysplasia 1, Anhidrotic en Hypohidrotic X-linked ectodermal dysplasia en Christ-Siemens-Touraine Syndrome en Hypohidrotic X-linked ectodermal dysplasia (disorder) en Ectodermal Dysplasia 1, Anhydrotic en hypohidrotic ectodermal dysplasia ar خلل التنسج الأديمي الظاهر ناقص التعرق de Christ-Siemens-Touraine-Syndrom fi Hypohidroottinen ektodermaalinen dysplasia fr syndrome de Christ-Siemens-Touraine fr dysplasie ectodermique hypohidrotique fr Syndrome de christ-siemens-touraine it displasia ipoidrotica ectodermica pl Hipohydrotyczna dysplazja ektodermalna ru ангидротическая эктодермальная дисплазия tr Hipohidrotik ektodermal displazi uk Гіпогідротична ектодермальна дисплазія vi hed zh 少汗性外胚層發育不良症 zh 無汗型外胚層發育不良症
🔖 Identifiers · 23
OpenAlex ID
C2777230673
BBC Things ID
b5f3b4f0-fe1d-458b-8047-f2c8bb46c870
Disease Ontology ID
DOID:14793
DiseasesDB
29810
Exact match
purl.obolibrary.org, identifiers.org, purl.obolibrary.org
Freebase ID
/m/0gj0zz
GARD rare disease ID
76, 10427
GeneReviews ID
NBK1112
Genetics Home Reference Conditions ID
hypohidrotic-ectodermal-dysplasia
Human Phenotype Ontology ID
HP:0007607
ICD-10 ID
Q82.4
ICD-11 ID (Foundation)
673167184
Show all 23 identifiers +11
ICD-11 ID (MMS)
LD27.02
ICD-9 ID
757.31
KEGG ID
H00651
MeSH descriptor ID
D053358
MeSH tree code
C16.131.077.350.198, C16.131.831.350.198, C16.320.322.116, C16.320.850.250.198, C17.800.804.350.198, C17.800.827.250.198
Microsoft Academic ID (discontinued)
2777230673
OMIM ID
300k (129k–305k, n=4)
Orphanet ID
238468
Raras disease ID
D238468
UMLS CUI
C0162359
WikiProjectMed ID
Hypohidrotic ectodermal dysplasia

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

🔗 Connections
Genetic association 3
EDAR, EDA, IKBKG
Health specialty 1
medical genetics
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
Subclass of 1
ectodermal dysplasia
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Summary

hypohidrotic ectodermal dysplasia is a rare disease[1].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . Retrieved . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . wikidata.org.
  6. [7] ↑ . Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment.. wikidata.org.
  7. [8] ↑ . A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). wikidata.org.
  8. [9] ↑ . Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. wikidata.org.
  9. [10] ↑ . Retrieved . wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . 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). hypohidrotic ectodermal dysplasia. Retrieved November 8, 2026, from https://4ort.xyz/entity/hypohidrotic-ectodermal-dysplasia
MLA “hypohidrotic ectodermal dysplasia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 8 Nov. 2026, https://4ort.xyz/entity/hypohidrotic-ectodermal-dysplasia.
BibTeX @misc{4ortxyz_hypohidrotic-ectodermal-dysplasia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{hypohidrotic ectodermal dysplasia}}, year = {2026}, url = {https://4ort.xyz/entity/hypohidrotic-ectodermal-dysplasia}, note = {Accessed: 2026-11-08}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): hypohidrotic ectodermal dysplasia — https://4ort.xyz/entity/hypohidrotic-ectodermal-dysplasia (retrieved 2026-11-08)

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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.

  1. 17d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    Instance of → rare disease, class of disease
    Health specialty → medical genetics
    Genetic association → EDA, IKBKG, EDAR +1
    Wikidata description → human disease
    + 5 other properties edited (see Wikidata diff for full list)
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.