Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/274500 http://purl.bioontology.org/ontology/OMIM/274500
Preferred Name	THYROID DYSHORMONOGENESIS 2A
Synonyms	THYROID PEROXIDASE DEFICIENCY IODIDE PEROXIDASE DEFICIENCY HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A TDH2A THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A
Type	http://www.w3.org/2002/07/owl#Class

altLabel	THYROID PEROXIDASE DEFICIENCY IODIDE PEROXIDASE DEFICIENCY HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A TDH2A THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A
prefLabel	THYROID DYSHORMONOGENESIS 2A
Gene Symbol	TPX TDH2A TPO
Scope Statement	Caused by mutations in the thyroid peroxidase gene (TPO, 606765.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009053 http://purl.bioontology.org/ontology/OMIM/MTHU009054 http://purl.bioontology.org/ontology/OMIM/MTHU009052 http://purl.bioontology.org/ontology/OMIM/MTHU009051 http://purl.bioontology.org/ontology/OMIM/MTHU002670 http://purl.bioontology.org/ontology/OMIM/MTHU001215 See more See less
tui	T047
Gene Locus	2p25
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	274500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1291299
OMIM Entry Type	3
OMIM MimType Value	pound

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