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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09104 | Gamma-enolase | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P22303 | Acetylcholinesterase | |
| P52803 | Ephrin-A5 | |
| Q13510 | Acid ceramidase | |
| Q6Y288 | Beta-1,3-glucosyltransferase |
