Spastic paraplegia 27, autosomal recessive

Preferred Label : Spastic paraplegia 27, autosomal recessive;

Symbol : SPG27;

CISMeF acronym : SPG27;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %609041;

Details

Origin ID

609041;

UMLS CUI

C1836899;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 27 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 27 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 27 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 27 [DO Concept]
- spastic paraplegia 27, autosomal recessive [MeSH concept]
- spastic paraplegia 27, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 27 [DO Concept]
HPO term(s)
- Adult onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Decreased vibration sense in feet [HPO term]
- Dysarthria [HPO term]
- Impaired vibration sensation at ankles [HPO term]
- Lower limb hyperreflexia [HPO term]
- Lower limb spasticity [HPO term]
- Spastic paraplegia [HPO term]
- Spastic/hyperactive bladder [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 27 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 27 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 27 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 27 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 27 [DO Concept]
- spastic paraplegia 27, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 27, autosomal recessive [MeSH concept]

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