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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

MESH:C562771

OMIM:274900

Synonyms

genetic defect in thyroid hormonogenesis 5 [EXACT]

TDH5 [EXACT]

Parent Relationships

is_a familial thyroid dyshormonogenesis

is_a autosomal recessive disease

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