Thyroid dyshormonogenesis

Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis
MedicalCondition rare_disease Q7799748
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Thyroid dyshormonogenesis

Summary

Thyroid dyshormonogenesis is a rare disease[1]. It draws 6 Wikipedia views per month (rare_disease category, ranking #233 of 627).[2]

Key Facts

  • Thyroid dyshormonogenesis's instance of is recorded as rare disease[3].
  • Thyroid dyshormonogenesis's instance of is recorded as class of disease[4].
  • Thyroid dyshormonogenesis's subclass of is recorded as hypothyroidism[5].
  • Thyroid dyshormonogenesis's subclass of is recorded as metabolic disease[6].
  • Thyroid dyshormonogenesis's subclass of is recorded as primary congenital hypothyroidism without thyroid developmental anomaly[7].
  • Thyroid dyshormonogenesis's MeSH descriptor ID is recorded as C564766[8].
  • Thyroid dyshormonogenesis's OMIM ID is recorded as 274400[9].
  • Thyroid dyshormonogenesis's ICD-9 ID is recorded as 246.1[10].
  • Thyroid dyshormonogenesis's ICD-10 ID is recorded as E07.1[11].
  • Thyroid dyshormonogenesis's DiseasesDB is recorded as 9771[12].
  • Thyroid dyshormonogenesis's KEGG ID is recorded as H00251[13].
  • Thyroid dyshormonogenesis's Orphanet ID is recorded as 95716[14].
  • Thyroid dyshormonogenesis's NCI Thesaurus ID is recorded as C121751[15].
  • Thyroid dyshormonogenesis's health specialty is recorded as endocrinology[16].
  • Thyroid dyshormonogenesis's genetic association is recorded as DUOXA2[17].
  • Thyroid dyshormonogenesis's genetic association is recorded as TG[18].
  • Thyroid dyshormonogenesis's genetic association is recorded as IYD[19].
  • Thyroid dyshormonogenesis's genetic association is recorded as SLC5A5[20].
  • Thyroid dyshormonogenesis's genetic association is recorded as DUOX2[21].
  • Thyroid dyshormonogenesis's genetic association is recorded as TPO[22].
  • Thyroid dyshormonogenesis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_95716[23].
  • Thyroid dyshormonogenesis's UMLS CUI is recorded as C1848805[24].
  • Thyroid dyshormonogenesis's UMLS CUI is recorded as C4273748[25].
  • Thyroid dyshormonogenesis's Medical Dictionary for Regulatory Activities ID is recorded as 10013915[26].
  • Thyroid dyshormonogenesis's ICD-10-CM is recorded as E03.0[27].

Why It Matters

Thyroid dyshormonogenesis draws 6 Wikipedia views per month (rare_disease category, ranking #233 of 627).[2]

References

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

Direct Wikidata claims

  1. [3] . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . wikidata.org.
  11. [13] . wikidata.org.
  12. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [15] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [16] . wikidata.org.
  15. [17] . Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. wikidata.org.
  16. [18] . A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. wikidata.org.
  17. [19] . Mutations in the iodotyrosine deiodinase gene and hypothyroidism. wikidata.org.
  18. [20] . Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. wikidata.org.
  19. [21] . Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  20. [22] . Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. wikidata.org.
  21. [23] . wikidata.org.
  22. [24] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  23. [25] . UMLS 2023. Retrieved . wikidata.org.
  24. [26] . cdn.who.int. cdn.who.int. Provenance: wikidata.org.
  25. [27] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.

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APA 4ort.xyz Knowledge Graph. (2026). Thyroid dyshormonogenesis. Retrieved May 3, 2026, from https://4ort.xyz/entity/thyroid-dyshormonogenesis
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BibTeX @misc{4ortxyz_thyroid-dyshormonogenesis_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Thyroid dyshormonogenesis}}, year = {2026}, url = {https://4ort.xyz/entity/thyroid-dyshormonogenesis}, note = {Accessed: 2026-05-03}}
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