Spinocerebellar ataxia 30

Preferred Label : Spinocerebellar ataxia 30;

Symbol : SCA30;

CISMeF acronym : SCA30;

Type : Phenotype or locus, molecular basis unknown;

Description : For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).;

Inheritance : Autosomal dominant;

Prefixed ID : %613371;

Détails

Origin ID

613371;

UMLS CUI

C2936793;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia type 30 [ICD-11 More detail]
- Spinocerebellar ataxia type 30 [ORDO Disease]
- Spinocerebellar ataxia type 30 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 30 [MeSH concept]
- spinocerebellar ataxia 30 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 30 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 30 [DO Concept]
HPO term(s)
- Adult onset [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Hypermetric saccades [HPO term]
- Insidious onset [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 30 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia type 30 [ORDO Disease]
- Spinocerebellar ataxia type 30 [ICD-11 More detail]
- Spinocerebellar ataxia type 30 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 30 [MeSH Supplementary Concept]
- spinocerebellar ataxia 30 [MeSH concept]
- spinocerebellar ataxia type 30 [DO Concept]

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

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