FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term thyroid dyshormonogenesis 1 ID (Ontology) DOID:0112185 (Human Disease)
Definition A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11.
Also Known As "genetic defect in thyroid hormonogenesis 1" ; "iodide accumulation, transport, or trapping defect" ; "TDH1"
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 Genes
 thyroid dyshormonogenesis 1      13
 for disease ribbon | thyroid dyshormonogenesis 1      13
 model of | thyroid dyshormonogenesis 1      13
Spanning Tree (Parents/Children)
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congenital hypothyroidism
 |__familial thyroid dyshormonogenesis__
autosomal genetic disease               |
 |__autosomal recessive disease_________|
                                        thyroid dyshormonogenesis 1  13 rec.
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Is a autosomal recessive disease
familial thyroid dyshormonogenesis
Part of
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Synonyms
  • "genetic defect in thyroid hormonogenesis 1" EXACT
    "iodide accumulation, transport, or trapping defect" EXACT
    "TDH1" EXACT OMO:0003012
Secondary IDs
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MESH:C564766
MIM:274400