Thyroid dyshormonogenesis 5

Preferred Label : Thyroid dyshormonogenesis 5;

Symbol : TDH5;

CISMeF acronym : TDH5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypothyroidism, congenital, due to dyshormonogenesis, 5; Thyroid hormonogenesis, genetic defect in, 5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dual oxidase maturation factor 2 gene (DUOXA2, 612772.0001);

Laboratory abnormalities : Low or low-normal serum T4; Absent or abnormal thyroglobulin; Thyroglobulin synthesis defect;

Prefixed ID : #274900;

Details

Origin ID

274900;

UMLS CUI

C0342196;

Automatic exact mappings (from CISMeF team)
- Primary congenital hypothyroidism without thyroid developmental anomaly [ORDO Disease]
Currated CISMeF NLP mapping
- thyroid dyshormonogenesis 5 [MeSH concept]
- thyroid dyshormonogenesis 5 [MeSH Supplementary Concept]
Genes related to phenotype
- Dual oxidase maturation factor 2 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Goiter [HPO term]
- Growth delay [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- Familial thyroid dyshormonogenesis [ORDO Disease]
See also inter- (CISMeF)
- Familial thyroid dyshormonogenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thyroglobulin synthesis defect (disorder) [SNOMED CT concept]
- thyroglobulin synthesis defect [SNOMED Notion]
- thyroid dyshormonogenesis 5 [MeSH Supplementary Concept]
- thyroid dyshormonogenesis 5 [MeSH concept]

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