Thyroid hormone metabolism, abnormal, 1

Preferred Label : Thyroid hormone metabolism, abnormal, 1;

Symbol : THMA1;

CISMeF acronym : THMA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : THMA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the selenocysteine insertion sequence-binding protein 2 gene (SECISBP2, 607693.0001);

Laboratory abnormalities : Low serum selenium;

Prefixed ID : #609698;

Details

Origin ID

609698;

UMLS CUI

C5676891;

Currated CISMeF NLP mapping
- Short stature-delayed bone age due to thyroid hormone metabolism deficiency [ORDO Disease]
- thyroid hormone metabolism, abnormal [MeSH concept]
- thyroid hormone metabolism, abnormal [MeSH Supplementary Concept]
Genes related to phenotype
- Selenocysteine insertion sequence-binding protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed skeletal maturation [HPO term]
- Elevated circulating thyroid-stimulating hormone concentration [HPO term]
- Short stature [HPO term]
Not associated HPO term(s)
- Hypothyroidism [HPO term]
ORDO concept(s)
- Short stature-delayed bone age due to thyroid hormone metabolism deficiency [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Short stature-delayed bone age due to thyroid hormone metabolism deficiency [ORDO Disease]
- thyroid hormone metabolism, abnormal [MeSH Supplementary Concept]
- thyroid hormone metabolism, abnormal [MeSH concept]

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