Chorea, benign hereditary

Preferred Label : Chorea, benign hereditary;

Symbol : BHC;

CISMeF acronym : BCH; BHC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hereditary progressive chorea without dementia; BCH;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the thyroid transcription factor-1 gene (TITF1, 600635.0001);

Prefixed ID : #118700;

Détails

Origin ID

118700;

UMLS CUI

C0393584;

Automatic exact mappings (from CISMeF team)
- CHN2 wt Allele [NCIt concept]
- Hexachlorocyclohexane [ICD-11 Extension code]
- NKX2-1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Benign hereditary chorea [ICD-11 Subcategory]
- Benign hereditary chorea [ORDO Disease]
- Benign hereditary chorea (disorder) [SNOMED CT concept]
- benign hereditary chorea [Disease (Nov.)]
- chorea [MeSH Descriptor]
- chorea, benign familial [MeSH concept]
- chorea, benign familial [MeSH Supplementary Concept]
- chorea, benign hereditary [MeSH concept]
DO Cross reference
- choreatic disease [DO Concept]
Genes related to phenotype
- Nk2 homeobox 1 [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chorea [HPO term]
- Dysarthria [HPO term]
- Gait abnormalities may occur [HPO term]
- Gait disturbance [HPO term]
- Juvenile onset [HPO term]
- Motor delay [HPO term]
Not associated HPO term(s)
- Dementia [HPO term]
ORDO concept(s)
- Benign hereditary chorea [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Benign hereditary chorea (disorder) [SNOMED CT concept]
- benign hereditary chorea [Disease (Nov.)]
- chorea, benign hereditary [MeSH concept]

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