Huntington disease-like 1

Preferred Label : Huntington disease-like 1;

Symbol : HDL1;

CISMeF acronym : HDL1; HLN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Huntington-like neurodegenerative disorder, autosomal dominant; Prion disease, early-onset, with prominent psychiatric features; Huntington-like neurodegenerative disorder 1; HLN1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by insertion of 8 extra octapeptide repeats in the prion protein gene (PRNP, 176640.0001);

Prefixed ID : #603218;

Détails

Origin ID

603218;

UMLS CUI

C1864112;

Automatic exact mappings (from CISMeF team)
- high density lipoprotein-1 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Huntington disease-like 1 [ORDO Disease]
- Huntington disease-like 1 (disorder) [SNOMED CT concept]
- Huntington's disease-like 1 [DO Concept]
- huntington Disease-Like 1 [MeSH concept]
- huntington Disease-Like 1 [MeSH Supplementary Concept]
DO Cross reference
- Huntington's disease-like 1 [DO Concept]
Genes related to phenotype
- Prion protein [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basal ganglia gliosis [HPO term]
- Chorea [HPO term]
- Delusions [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Global brain atrophy [HPO term]
- Incoordination [HPO term]
- Personality changes [HPO term]
- Restlessness [HPO term]
- Rigidity [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Huntington disease-like 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Huntington disease-like 1 [ORDO Disease]
- Huntington disease-like 1 (disorder) [SNOMED CT concept]
- Huntington's disease-like 1 [DO Concept]
- huntington Disease-Like 1 [MeSH Supplementary Concept]
- huntington Disease-Like 1 [MeSH concept]

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

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