Metadata | |
---|---|
ID | DOID:0112184 |
Name | thyroid dyshormonogenesis 5 |
Definition | A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. https://pubmed.ncbi.nlm.nih.gov/18042646/ |
Xrefs | |
Synonyms |
genetic defect in thyroid hormonogenesis 5 [EXACT] TDH5 [EXACT] |
Parent Relationships |