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Metadata
ID DOID:0112188
Name thyroid dyshormonogenesis 4
Definition A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1.
https://pubmed.ncbi.nlm.nih.gov/18434651/
Xrefs

OMIM:274800

Synonyms

deiodinase deficiency [EXACT]

genetic defect in thyroid hormonogenesis 4 [EXACT]

iodotyrosine dehalogenase deficiency [EXACT]

TDH4 [EXACT]

Parent Relationships

is_a familial thyroid dyshormonogenesis

is_a autosomal recessive disease

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