OBO ID: DOID:0070123
Term Name: congenital nongoitrous hypothyroidism 4 Search Ontology:
Synonyms:
  • 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. https://www.ncbi.nlm.nih.gov/pubmed/2792087
References:
Ontology: Human Disease   (DOID:0070123)
OTHER congenital nongoitrous hypothyroidism 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TSHB Hypothyroidism, congenital, nongoitrous 4 275100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None