Hypothyroidism, congenital, nongoitrous, 7

Preferred Label : Hypothyroidism, congenital, nongoitrous, 7;

Symbol : CHNG7;

CISMeF acronym : CHNG7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thyrotropin-releasing hormone resistance, generalized;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thyrotropin-releasing hormone receptor gene (TRHR, 188545.0001);

Prefixed ID : #618573;

Détails

Origin ID

618573;

UMLS CUI

C1861106;

Currated CISMeF NLP mapping
- Thyrotropin-Releasing hormone resistance, generalized [MeSH Supplementary Concept]
- Thyrotropin-Releasing hormone resistance, generalized [MeSH concept]
- congenital nongoitrous hypothyroidism 7 [DO Concept]
DO Cross reference
- congenital nongoitrous hypothyroidism 7 [DO Concept]
Genes related to phenotype
- Thyrotropin-releasing hormone receptor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased circulating T4 level [HPO term]
- Delayed skeletal maturation [HPO term]
- Fatigue [HPO term]
- Growth delay [HPO term]
- Lethargy [HPO term]
- Reduced TSH response to thyrotrophin-releasing hormone stimulation test [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Resistance to thyrotropin-releasing hormone syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) [SNOMED CT concept]
- Thyrotropin-Releasing hormone resistance, generalized [MeSH concept]
- Thyrotropin-Releasing hormone resistance, generalized [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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