Spinocerebellar ataxia 28

Preferred Label : Spinocerebellar ataxia 28;

Symbol : SCA28;

CISMeF acronym : SCA28;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATPase family gene 3-like 2 gene (AFG3L2, 604581.0001);

Prefixed ID : #610246;

Détails

Origin ID

610246;

UMLS CUI

C1853249;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type I [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 28 [MeSH concept]
- Spinocerebellar ataxia type 28 [ICD-11 More detail]
- Spinocerebellar ataxia type 28 [ORDO Disease]
- Spinocerebellar ataxia type 28 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 28 [Disease (Nov.)]
- spinocerebellar ataxia 28 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 28 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 28 [DO Concept]
Genes related to phenotype
- Afg3-like matrix aaa peptidase, subunit 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Dysmetric saccades [HPO term]
- Dystonia [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Hypertonia [HPO term]
- Limb ataxia [HPO term]
- Lower limb hyperreflexia [HPO term]
- Ophthalmoparesis [HPO term]
- Parkinsonism [HPO term]
- Ptosis [HPO term]
- Slow saccadic eye movements [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 28 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 28 [MeSH concept]
- Spinocerebellar ataxia type 28 [ORDO Disease]
- Spinocerebellar ataxia type 28 [ICD-11 More detail]
- Spinocerebellar ataxia type 28 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 28 [MeSH Supplementary Concept]
- spinocerebellar ataxia 28 [Disease (Nov.)]
- spinocerebellar ataxia type 28 [DO Concept]

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