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pure hair-nail type ectodermal dysplasia

human disease
MedicalCondition rare_disease Q7261148
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Summary

pure hair-nail type ectodermal dysplasia is a rare disease[1].

Key Facts

  • pure hair-nail type ectodermal dysplasia's instance of is recorded as rare disease[2].
  • pure hair-nail type ectodermal dysplasia's instance of is recorded as class of disease[3].
  • pure hair-nail type ectodermal dysplasia's subclass of is recorded as ectodermal dysplasia[4].
  • pure hair-nail type ectodermal dysplasia's MeSH descriptor ID is recorded as C566592[5].
  • pure hair-nail type ectodermal dysplasia's OMIM ID is recorded as 602032[6].
  • pure hair-nail type ectodermal dysplasia's OMIM ID is recorded as 614928[7].
  • pure hair-nail type ectodermal dysplasia's OMIM ID is recorded as 614929[8].
  • pure hair-nail type ectodermal dysplasia's OMIM ID is recorded as 614931[9].
  • pure hair-nail type ectodermal dysplasia's KEGG ID is recorded as H00649[10].
  • pure hair-nail type ectodermal dysplasia's Disease Ontology ID is recorded as DOID:0111655[11].
  • pure hair-nail type ectodermal dysplasia's Orphanet ID is recorded as 69084[12].
  • pure hair-nail type ectodermal dysplasia's genetic association is recorded as HOXC13[13].
  • pure hair-nail type ectodermal dysplasia's genetic association is recorded as KRT85[14].
  • pure hair-nail type ectodermal dysplasia's genetic association is recorded as KRT74[15].
  • pure hair-nail type ectodermal dysplasia's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_69084[16].
  • pure hair-nail type ectodermal dysplasia's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111655[17].
  • pure hair-nail type ectodermal dysplasia's exact match is recorded as http://identifiers.org/doid/DOID:0111655[18].
  • pure hair-nail type ectodermal dysplasia's UMLS CUI is recorded as C1865951[19].
  • pure hair-nail type ectodermal dysplasia's Mondo ID is recorded as MONDO_0019071[20].
  • pure hair-nail type ectodermal dysplasia's ICD-11 ID is recorded as 691002661[21].
  • pure hair-nail type ectodermal dysplasia's UniProt disease ID is recorded as DI-00427[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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . Disease Ontology. Retrieved . wikidata.org.
  11. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] ↑ . Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  13. [14] ↑ . A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. wikidata.org.
  14. [15] ↑ . Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. wikidata.org.
  15. [16] ↑ . wikidata.org.
  16. [17] ↑ . Disease Ontology. Retrieved . wikidata.org.
  17. [18] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  18. [19] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  19. [20] ↑ . wikidata.org.
  20. [21] ↑ . wikidata.org.
  21. [22] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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