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autosomal recessive hypohidrotic ectodermal dysplasia

autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR receptor or EDAR-associated death domain protein
MedicalCondition rare_disease Q54911667
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autosomal recessive hypohidrotic ectodermal dysplasia

Summary

autosomal recessive hypohidrotic ectodermal dysplasia is a rare disease[1].

Key Facts

  • autosomal recessive hypohidrotic ectodermal dysplasia's instance of is recorded as rare disease[2].
  • autosomal recessive hypohidrotic ectodermal dysplasia's instance of is recorded as class of disease[3].
  • autosomal recessive hypohidrotic ectodermal dysplasia's subclass of is recorded as hypohidrotic ectodermal dysplasia[4].
  • autosomal recessive hypohidrotic ectodermal dysplasia's MeSH descriptor ID is recorded as D053360[5].
  • autosomal recessive hypohidrotic ectodermal dysplasia's MeSH tree code is recorded as C16.131.077.350.348[6].
  • autosomal recessive hypohidrotic ectodermal dysplasia's MeSH tree code is recorded as C16.131.831.350.348[7].
  • autosomal recessive hypohidrotic ectodermal dysplasia's MeSH tree code is recorded as C16.320.850.250.348[8].
  • autosomal recessive hypohidrotic ectodermal dysplasia's MeSH tree code is recorded as C17.800.804.350.348[9].
  • autosomal recessive hypohidrotic ectodermal dysplasia's MeSH tree code is recorded as C17.800.827.250.348[10].
  • autosomal recessive hypohidrotic ectodermal dysplasia's Orphanet ID is recorded as 248[11].
  • autosomal recessive hypohidrotic ectodermal dysplasia's NCI Thesaurus ID is recorded as C84580[12].
  • autosomal recessive hypohidrotic ectodermal dysplasia's health specialty is recorded as dermatology[13].
  • autosomal recessive hypohidrotic ectodermal dysplasia's health specialty is recorded as medical genetics[14].
  • autosomal recessive hypohidrotic ectodermal dysplasia's genetic association is recorded as EDARADD[15].
  • autosomal recessive hypohidrotic ectodermal dysplasia's genetic association is recorded as EDAR[16].
  • autosomal recessive hypohidrotic ectodermal dysplasia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_248[17].
  • autosomal recessive hypohidrotic ectodermal dysplasia's UMLS CUI is recorded as C0406702[18].
  • autosomal recessive hypohidrotic ectodermal dysplasia's ICD-10-CM is recorded as Q82.4[19].
  • autosomal recessive hypohidrotic ectodermal dysplasia's GARD rare disease ID is recorded as 2057[20].
  • autosomal recessive hypohidrotic ectodermal dysplasia's Mondo ID is recorded as MONDO_0016619[21].
  • autosomal recessive hypohidrotic ectodermal dysplasia's ICD-11 ID is recorded as 7083042[22].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . wikidata.org.
  14. [15] ↑ . Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  15. [16] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  16. [17] ↑ . wikidata.org.
  17. [18] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [19] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  19. [20] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  20. [21] ↑ . wikidata.org.
  21. [22] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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BibTeX @misc{4ortxyz_autosomal-recessive-hypohidrotic-ectodermal-dysplasia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive hypohidrotic ectodermal dysplasia}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-hypohidrotic-ectodermal-dysplasia}, note = {Accessed: 2026-05-03}}
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