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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 31 - 40 of 58 in total
Gene ID Gene Symbol Description Source
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
5289 PIK3C3 phosphatidylinositol 3-kinase catalytic subunit type 3
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5320 PLA2G2A phospholipase A2 group IIA
5373 PMM2 phosphomannomutase 2
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5728 PTEN phosphatase and tensin homolog
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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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