FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital nongoitrous hypothyroidism 2 ID (Ontology) DOID:0070124 (Human Disease)
Definition A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.
Also Known As "CHNG2" ; "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia"
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 Genes
 congenital nongoitrous hypothyroidism 2       1
 for disease ribbon | congenital nongoitrous hypothyroidism 2       1
 model of | congenital nongoitrous hypothyroidism 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
physical disorder               |
 |__congenital hypothyroidism___|
hypothyroidism                  |
 |__congenital hypothyroidism___|
                                congenital nongoitrous hypothyroidism 2  1 rec.
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Is a congenital hypothyroidism
autosomal dominant disease
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Synonyms
  • "CHNG2" EXACT OMO:0003012
    "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia" EXACT
Secondary IDs
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ICD10CM:E03.1
MIM:218700