OBO ID: DOID:0111835
Term Name: congenital nongoitrous hypothyroidism 9 Search Ontology:
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 congenital nongoitrous hypothyroidism 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IRS4 Hypothyroidism, congenital, nongoitrous, 9 301035
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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