Spastic paraplegia 13, autosomal dominant

Preferred Label : Spastic paraplegia 13, autosomal dominant;

Symbol : SPG13;

CISMeF acronym : SPG13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the heat-shock 60kD protein 1 gene (HSPD1, 118190.0001);

Prefixed ID : #605280;

Details

Origin ID

605280;

UMLS CUI

C1854467;

Automatic exact mappings (from CISMeF team)
- HSPD1 wt Allele [NCIt concept]
- hereditary spastic paraplegia 13 [DO Concept]
- symbol withdrawn SPG13 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 13 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 13 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 13 (disorder) [SNOMED CT concept]
- Spastic paraplegia 13, autosomal dominant [MeSH concept]
- spastic paraplegia 13, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 13 [DO Concept]
Genes related to phenotype
- Heat-shock 60-kd protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Progressive [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Sphincter disturbance [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 13 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 13 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 13 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 13 (disorder) [SNOMED CT concept]
- Spastic paraplegia 13, autosomal dominant [MeSH concept]
- spastic paraplegia 13, autosomal dominant [MeSH Supplementary Concept]

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