Spinocerebellar ataxia 25

Preferred Label : Spinocerebellar ataxia 25;

Symbol : SCA25;

CISMeF acronym : SCA25;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal dominant;

Prefixed ID : #608703;

Details

Origin ID

608703;

UMLS CUI

C1837518;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type III [ORDO Disease]
CISMeF manual mappings
- Spinocerebellar ataxia type 25 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 25 [MeSH concept]
- Spinocerebellar ataxia type 25 [ICD-11 More detail]
- Spinocerebellar ataxia type 25 [ORDO Disease]
- spinocerebellar ataxia 25 [Disease (Nov.)]
- spinocerebellar ataxia 25 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 25 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 25 [DO Concept]
Genes related to phenotype
- Polyribonucleotide nucleotidyltransferase 1 [OMIM gene]
HPO term(s)
- Abolished vibration sense [HPO term]
- Areflexia of lower limbs [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Dysarthria [HPO term]
- Facial myokymia [HPO term]
- Facial tics [HPO term]
- Impaired pain sensation [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Reduced visual acuity [HPO term]
- Scoliosis [HPO term]
- Sensory neuropathy [HPO term]
- Strabismus [HPO term]
- Urinary urgency [HPO term]
- Visual impairment [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 25 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 25 [MeSH concept]
- Spinocerebellar ataxia type 25 [ORDO Disease]
- Spinocerebellar ataxia type 25 [ICD-11 More detail]
- Spinocerebellar ataxia type 25 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 25 [MeSH Supplementary Concept]
- spinocerebellar ataxia 25 [ORDO Gene]
- spinocerebellar ataxia 25 [Disease (Nov.)]
- spinocerebellar ataxia type 25 [DO Concept]

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