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

• ICD10CM:E03.1
• OMIM:218700

Ontology

Human Disease   ( DOID:0070124 )