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 1 - 10 of 58 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
308 ANXA5 annexin A5
410 ARSA arylsulfatase A
427 ASAH1 N-acylsphingosine amidohydrolase 1
570 BAAT bile acid-CoA:amino acid N-acyltransferase
847 CAT catalase
1012 CDH13 cadherin 13
1312 COMT catechol-O-methyltransferase
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 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

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Acknowledgements

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


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Last updated: August 19, 2024