Search Ontology:
Human Disease

congenital nongoitrous hypothyroidism 4

Term ID
DOID:0070123
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.