Spinocerebellar ataxia 27

Preferred Label : Spinocerebellar ataxia 27;

Obsolete resource : true;

Moved to : 193003;

Symbol : SCA27;

CISMeF acronym : SCA27;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebellar ataxia, autosomal dominant, fgf14-related;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor gene-14 (FGF14, 601515.0001);

Prefixed ID : 609307;

Détails

Origin ID

609307;

UMLS CUI

C1836383;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type I [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 27 [MeSH concept]
- Spinocerebellar ataxia type 27 [ICD-11 More detail]
- Spinocerebellar ataxia type 27 [ORDO Disease]
- Spinocerebellar ataxia type 27 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 27 [Disease (Nov.)]
- spinocerebellar ataxia 27 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 27 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 27 [DO Concept]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysmetric saccades [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Head tremor [HPO term]
- Heterogeneous [HPO term]
- Impaired smooth pursuit [HPO term]
- Impaired vibratory sensation [HPO term]
- Intellectual disability, mild [HPO term]
- Limb ataxia [HPO term]
- Memory impairment [HPO term]
- Memory loss [HPO term]
- Orofacial dyskinesia [HPO term]
- Pes cavus [HPO term]
- Postural tremor [HPO term]
- Sensory axonal neuropathy [HPO term]
- Sensory axonal neuropathy, mild [HPO term]
- Slowly progressive [HPO term]
- Strabismus [HPO term]
- Truncal ataxia [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 27 [ORDO Disease]
See also inter- (CISMeF)
- FGF14 wt Allele [NCIt concept]
- fibroblast growth factor 14 [ORDO Gene]
- fibroblast growth factor 14 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 27 [MeSH concept]
- Spinocerebellar ataxia type 27 [ORDO Disease]
- Spinocerebellar ataxia type 27 [ICD-11 More detail]
- Spinocerebellar ataxia type 27 (disorder) [SNOMED CT concept]
- nystagmus 4, congenital, autosomal dominant [MeSH Supplementary Concept]
- spinocerebellar ataxia 27 [MeSH Supplementary Concept]
- spinocerebellar ataxia 27 [Disease (Nov.)]
- spinocerebellar ataxia type 27 [DO Concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients