thyroid dyshormonogenesis 1

Preferred Label : thyroid dyshormonogenesis 1;

MeSH note : mutation in SLC5A5;

MeSH synonym : iodine accumulation, transport, or trapping defect; thyroid hormonogenesis, genetic defect in, 1; hypothyroidism, congenital, due to dyshormonogenesis, 1;

Details

Origin ID

C564766;

UMLS CUI

C1848805;

Currated CISMeF NLP mapping
- Thyroid dyshormonogenesis 1 [OMIM Phenotype]
MeSH term(s) associated for indexing
- congenital hypothyroidism [MeSH Descriptor]
Record concept(s)
- thyroid dyshormonogenesis 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thyroid dyshormonogenesis 1 [OMIM Phenotype]

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