Search Ontology:
Human Disease

congenital nongoitrous hypothyroidism 9

Term ID
DOID:0111835
Synonyms
  • CHNG9
Definition
A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. https://www.ncbi.nlm.nih.gov/pubmed/30061370
References
Ontology
Human Disease   ( DOID:0111835 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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