Search Ontology:
Human Disease

congenital nongoitrous hypothyroidism 2

Term ID
DOID:0070124
Synonyms
  • CHNG2
  • congenital hypothyroidism due to thyroid dysgenesis or hypoplasia
Definition
A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. https://www.ncbi.nlm.nih.gov/pubmed/9590296
References
Ontology
Human Disease   ( DOID:0070124 )
Relationships
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.