Term Name: thyroid dyshormonogenesis 1
Synonyms: genetic defect in thyroid hormonogenesis 1, iodide accumulation, transport, or trapping defect, TDH1
Definition: A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11.
Ontology: Human Disease [DOID:0112185]   ( DOID:0112185 )

Relationships
is a type of: autosomal recessive disease familial thyroid dyshormonogenesis