congenital nongoitrous hypothyroidism 2

Summary
Synonym
  • CHNG2
  • congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
Definition
A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.
Super Class
autosomal dominant disease congenital hypothyroidism
External Links
Disease Ontology
DOID:0070124
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
427 ASAH1 N-acylsphingosine amidohydrolase 1
1946 EFNA5 ephrin A5
2026 ENO2 enolase 2
2539 G6PD glucose-6-phosphate dehydrogenase
145173 B3GLCT beta 3-glucosyltransferase

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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: August 19, 2024