Hypothyroidism, congenital, nongoitrous, 8

Preferred Label : Hypothyroidism, congenital, nongoitrous, 8;

Symbol : CHNG8;

CISMeF acronym : CHNG8;

Type : Phenotype, molecular basis known;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the X-linked transducin-beta-like-1 gene (TBL1X, 300196.0001);

Laboratory abnormalities : Hypercholesterolemia H (5 of 17 mut );

Prefixed ID : #301033;

Details

Origin ID

301033;

UMLS CUI

C5231395;

Automatic exact mappings (from CISMeF team)
- TBL1X wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- congenital nongoitrous hypothyroidism 8 [DO Concept]
DO Cross reference
- congenital nongoitrous hypothyroidism 8 [DO Concept]
Genes related to phenotype
- Transducin-beta-like 1, X-linked [OMIM gene]
HPO term(s)
- Attention deficit hyperactivity disorder [HPO term]
- Central hypothyroidism [HPO term]
- Constipation [HPO term]
- Decreased circulating free T4 level [HPO term]
- Diminished ability to concentrate [HPO term]
- Hypercholesterolemia [HPO term]
- Inappropriately normal thyroid-stimulating hormone level [HPO term]
- Infantile onset [HPO term]
- Macrocephaly [HPO term]
- Secondary amenorrhea [HPO term]
- X-linked inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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