OBO ID: DOID:0070124
Term Name: congenital nongoitrous hypothyroidism 2 Search Ontology:
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 )
OTHER congenital nongoitrous hypothyroidism 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PAX8 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia 218700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None