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].

Key Facts

  • Thyroid dyshormonogenesis's instance of is recorded as rare disease[2].
  • Thyroid dyshormonogenesis's instance of is recorded as class of disease[3].
  • Thyroid dyshormonogenesis is a type of hypothyroidism[4].
  • Thyroid dyshormonogenesis is a type of metabolic disease[5].
  • Thyroid dyshormonogenesis is a type of primary congenital hypothyroidism without thyroid developmental anomaly[6].
  • Thyroid dyshormonogenesis's NCI Thesaurus ID is recorded as C121751[7].
  • Thyroid dyshormonogenesis's health specialty is recorded as endocrinology[8].
  • Thyroid dyshormonogenesis's genetic association is recorded as DUOXA2[9].
  • Thyroid dyshormonogenesis's genetic association is recorded as TG[10].
  • Thyroid dyshormonogenesis's genetic association is recorded as IYD[11].
  • Thyroid dyshormonogenesis's genetic association is recorded as SLC5A5[12].
  • Thyroid dyshormonogenesis's genetic association is recorded as DUOX2[13].
  • Thyroid dyshormonogenesis's genetic association is recorded as TPO[14].
  • Thyroid dyshormonogenesis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_95716[15].

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

Class ancestry

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

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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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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. 9d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Nci thesaurus id C121751
    Health specialty endocrinology
    Imported from
    Icd-9 id 246.1
    + 16 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
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