Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/274900 http://purl.bioontology.org/ontology/OMIM/274900
Preferred Name	THYROID DYSHORMONOGENESIS 5
Synonyms	TDH5 HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	TDH5 HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 5
prefLabel	THYROID DYSHORMONOGENESIS 5
Gene Symbol	DUOXA2 TDH5
Scope Statement	Caused by mutation in the dual oxidase maturation factor 2 gene (DUOXA2, 612772.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU025702 http://purl.bioontology.org/ontology/OMIM/MTHU025699 http://purl.bioontology.org/ontology/OMIM/MTHU025700 http://purl.bioontology.org/ontology/OMIM/MTHU025701 http://purl.bioontology.org/ontology/OMIM/MTHU002670 http://purl.bioontology.org/ontology/OMIM/MTHU001215 See more See less
tui	T047
Gene Locus	15q15
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	274900
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0342196
OMIM Entry Type	3
OMIM MimType Value	pound

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