Huntington disease-like 2

Preferred Label : Huntington disease-like 2;

Symbol : HDL2;

CISMeF acronym : HDL2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a trinucleotide repeat expansion CAG(n) in the junctophilin-3 gene (JPH3, 605268.0001);

Prefixed ID : #606438;

Détails

Origin ID

606438;

UMLS CUI

C1847987;

Automatic exact mappings (from CISMeF team)
- Chorea due to Huntington disease-like 2 [ICD-11 More detail]
- HDL-Cholesterol Subclass 2 Measurement [NCIt concept]
- high-density lipoprotein particle [GO term]
- junctophilin 3 [ORDO Gene]
- junctophilin 3 [HGNC gene]
- lipoproteins, hdl2 [MeSH Descriptor]
Currated CISMeF NLP mapping
- Huntington disease like 2 [Disease (Nov.)]
- Huntington disease-like 2 [ORDO Disease]
- Huntington disease-like 2 (disorder) [SNOMED CT concept]
- Huntington's disease-like 2 [DO Concept]
- huntington Disease-Like 2 [MeSH concept]
- huntington Disease-Like 2 [MeSH Supplementary Concept]
DO Cross reference
- Huntington's disease-like 2 [DO Concept]
Genes related to phenotype
- Junctophilin 3 [OMIM gene]
HPO term(s)
- Action tremor [HPO term]
- Anxiety [HPO term]
- Apathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Chorea [HPO term]
- Delusions [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Hallucinations [HPO term]
- Hyperreflexia [HPO term]
- Irritability [HPO term]
- Rigidity [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Huntington disease-like 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Huntington disease like 2 [Disease (Nov.)]
- Huntington disease-like 2 [ORDO Disease]
- Huntington disease-like 2 (disorder) [SNOMED CT concept]
- Huntington's disease-like 2 [DO Concept]
- huntington Disease-Like 2 [MeSH Supplementary Concept]
- huntington Disease-Like 2 [MeSH concept]

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