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DO Term : congenital nongoitrous hypothyroidism 2 [DOID:0070124] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.
  • synonyms:
  • CHNG2,
  • 218700,
  • OMIM:218700,
  • congenital hypothyroidism due to thyroid dysgenesis or hypoplasia,
  • ICD10CM:E03.1
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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