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Thyroid Dyshormonogenesis 2A (MONDO:0010133)

Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.

Overview

Category

Ontology ID

Internal:11316

Synonyms

TDH2A

TPO familial thyroid dyshormonogenesis

familial thyroid dyshormonogenesis caused by mutation in TPO

hypothyroidism, congenital, due to dyshormonogenesis, 2A

thyroid dyshormonogenesis 2A

thyroid dyshormonogenesis type 2A

thyroid hormonogenesis, genetic defect in, 2A

iodide peroxidase deficiency

thyroid peroxidase deficiency

Mapped terms

DOID:0112186

GARD:0018189

ICD9:277.6

MEDGEN:226940

MESH:C563206

NCIT:C121750

OMIM:274500

SCTID:124204003

UMLS:C1291299

Child terms

Unknown children.