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
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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