# 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

**Wikidata**: [Q7799748](https://www.wikidata.org/wiki/Q7799748)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Thyroid_dyshormonogenesis)  
**Source**: https://4ort.xyz/entity/thyroid-dyshormonogenesis


## References

1. Monarch Disease Ontology release 2018-06-29
2. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism
3. A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism
4. Mutations in the iodotyrosine deiodinase gene and hypothyroidism
5. Congenital hypothyroidism caused by a mutation in the Na+/I- symporter
6. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000140279/MONDO_0010132)
8. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter
9. UMLS 2023
10. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)