congenital hypothyroidism

Summary
Definition
A hypothyroidism that is present at birth.
Super Class
hypothyroidism physical disorder
Disease Ontology
DOID:0050328
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
6528 SLC5A5 solute carrier family 5 member 5
7173 TPO thyroid peroxidase
7849 PAX8 paired box 8
50506 DUOX2 dual oxidase 2
Displaying all 5 entries
Gene ID Gene Symbol Description Source
12393 Runx2 runt related transcription factor 2
21819 Tg thyroglobulin
22018 Tpo thyroid peroxidase
22045 Trhr thyrotropin releasing hormone receptor
22095 Tshr thyroid stimulating hormone receptor
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24588 Nefm neurofilament medium chain
25360 Tshr thyroid stimulating hormone receptor
83613 Nefl neurofilament light chain

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025