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Standards Ontologies Notations
congenital hypothyroidism

Summary
Definition
A hypothyroidism that is present at birth.
Super Class
hypothyroidism physical disorder
External Links
Disease Ontology
DOID:0050328
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 20 of 58 in total
Gene ID Gene Symbol Description Source
1636 ACE angiotensin I converting enzyme
1946 EFNA5 ephrin A5
2026 ENO2 enolase 2
2132 EXT2 exostosin glycosyltransferase 2
2194 FASN fatty acid synthase
2517 FUCA1 alpha-L-fucosidase 1
2539 G6PD glucose-6-phosphate dehydrogenase
2619 GAS1 growth arrest specific 1
2752 GLUL glutamate-ammonia ligase
2817 GPC1 glypican 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
14380 G6pd2 glucose-6-phosphate dehydrogenase 2
14381 G6pdx glucose-6-phosphate dehydrogenase X-linked
19017 Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24377 G6pd glucose-6-phosphate dehydrogenase
83516 Ppargc1a PPARG coactivator 1 alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
32974 Zw Zwischenferment
Displaying 1 entry
Gene ID Gene Symbol Description Source
178046 gspd-1 Glucose-6-phosphate 1-dehydrogenase
Displaying 1 entry
Gene ID Gene Symbol Description Source
855480 ZWF1 glucose-6-phosphate dehydrogenase
Related Glycoprotein
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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