Spinocerebellar ataxia 18

Preferred Label : Spinocerebellar ataxia 18;

Symbol : SCA18;

CISMeF acronym : SCA18; SMNA;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Sensorimotor neuropathy with ataxia, autosomal dominant; SMNA;

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

Inheritance : Autosomal dominant;

Prefixed ID : %607458;

Details

Origin ID

607458;

UMLS CUI

C1843884;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type I [ORDO Disease]
Currated CISMeF NLP mapping
- Sensorimotor neuropathy with ataxia, autosomal dominant [MeSH concept]
- Spinocerebellar ataxia type 18 [ICD-11 More detail]
- Spinocerebellar ataxia type 18 [ORDO Disease]
- Spinocerebellar ataxia type 18 (disorder) [SNOMED CT concept]
- sensorimotor neuropathy with ataxia, autosomal dominant [MeSH Supplementary Concept]
- spinocerebellar ataxia 18 [Disease (Nov.)]
- spinocerebellar ataxia type 18 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 18 [DO Concept]
HPO term(s)
- Adolescent onset [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Hyporeflexia [HPO term]
- Limb muscle weakness [HPO term]
- Nystagmus [HPO term]
- Onset [HPO term]
- Pes cavus [HPO term]
- Progressive gait ataxia [HPO term]
- Sensory axonal neuropathy [HPO term]
- Skeletal muscle atrophy [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 18 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sensorimotor neuropathy with ataxia, autosomal dominant [MeSH concept]
- Spinocerebellar ataxia type 18 [ORDO Disease]
- Spinocerebellar ataxia type 18 [ICD-11 More detail]
- Spinocerebellar ataxia type 18 (disorder) [SNOMED CT concept]
- sensorimotor neuropathy with ataxia, autosomal dominant [MeSH Supplementary Concept]
- spinocerebellar ataxia 18 [Disease (Nov.)]
- spinocerebellar ataxia type 18 [DO Concept]

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