Metadata | |
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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 | |
Synonyms |
deiodinase deficiency [EXACT] genetic defect in thyroid hormonogenesis 4 [EXACT] iodotyrosine dehalogenase deficiency [EXACT] TDH4 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |