Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. [ NCIT:C121750 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C563206 (MONDO:equivalentTo)
  • ICD9:277.6 (i2s)
  • OMIM:274500 (MONDO:equivalentTo)
  • NCIT:C121750 (MONDO:equivalentTo)
  • UMLS:C1291299 (OMIM:274500)
  • SCTID:124204003 (MONDO:equivalentTo)
conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

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

exactMatch

http://purl.obolibrary.org/obo/NCIT_C121750

http://identifiers.org/omim/274500

http://identifiers.org/mesh/C563206

http://identifiers.org/snomedct/124204003

http://linkedlifedata.com/resource/umls/id/C1291299

has exact synonym

thyroid dyshormonogenesis 2A

TPO familial thyroid dyshormonogenesis

familial thyroid dyshormonogenesis caused by mutation in TPO

thyroid dyshormonogenesis type 2A

TDH2A

hypothyroidism, congenital, due to dyshormonogenesis, 2A

thyroid hormonogenesis, genetic defect in, 2A

has related synonym

thyroid peroxidase deficiency

iodide peroxidase deficiency

id

MONDO:0010133