Hypothyroidism, congenital, nongoitrous, 5

Preferred Label : Hypothyroidism, congenital, nongoitrous, 5;

Symbol : CHNG5;

CISMeF acronym : CHNG5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the E homolog of the Drosophila NK2 transcription factor (NKX2E, 600584.0004);

Laboratory abnormalities : Decreased free T(3)/free T(4); Increased TSH;

Prefixed ID : #225250;

Details

Origin ID

225250;

UMLS CUI

C2673630;

Automatic exact mappings (from CISMeF team)
- Athyreosis [ORDO Disease]
- Congenital hypothyroidism due to developmental anomaly [ORDO Disease]
Broader ORDO disease(s)
- Congenital hypothyroidism [ORDO Disease]
Currated CISMeF NLP mapping
- congenital nongoitrous hypothyroidism 5 [DO Concept]
- hypothyroidism, congenital, nongoitrous, 5 [MeSH concept]
- hypothyroidism, congenital, nongoitrous, 5 [MeSH Supplementary Concept]
DO Cross reference
- congenital nongoitrous hypothyroidism 5 [DO Concept]
Genes related to phenotype
- Nk2 homeobox 5 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital hypothyroidism [HPO term]
- Ectopic thyroid [HPO term]
- Growth delay [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Thyroid hypoplasia [HPO term]
ORDO concept(s)
- Athyreosis [ORDO Disease]
- Thyroid ectopia [ORDO Disease]
- Thyroid hypoplasia [ORDO Disease]
See also inter- (CISMeF)
- NKX2-5 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypothyroidism, congenital, nongoitrous, 5 [MeSH Supplementary Concept]
- hypothyroidism, congenital, nongoitrous, 5 [MeSH concept]

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