Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital nongoitrous hypothyroidism 4
Summary
- Synonym
-
- CHNG4
- isolated thyrotropin deficiency
- Definition
- A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.
- Super Class
- autosomal recessive disease congenital hypothyroidism
External Links
- Disease Ontology
- DOID:0070123
- Mondo Disease Ontology
- OMIM
