Spastic paraplegia 14, autosomal recessive

Preferred Label : Spastic paraplegia 14, autosomal recessive;

Symbol : SPG14;

CISMeF acronym : SPG14;

Type : Phenotype or locus, molecular basis unknown;

Description : For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).;

Inheritance : Autosomal recessive;

Prefixed ID : %605229;

Details

Origin ID

605229;

UMLS CUI

C1854568;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 14 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 14 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 14 (disorder) [SNOMED CT concept]
- Spastic paraplegia 14, autosomal recessive [MeSH concept]
- hereditary spastic paraplegia 14 [DO Concept]
- spastic paraplegia 14, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 14 [DO Concept]
HPO term(s)
- Adolescent onset [HPO term]
- Adult onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Distal motor neuropathy [HPO term]
- Hyperreflexia [HPO term]
- Intellectual disability, mild [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Motor axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 14 [ORDO Disease]
See also inter- (CISMeF)
- spastic paraplegia 14 (autosomal recessive) [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 14 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 14 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 14 (disorder) [SNOMED CT concept]
- Spastic paraplegia 14, autosomal recessive [MeSH concept]
- hereditary spastic paraplegia 14 [DO Concept]
- spastic paraplegia 14, autosomal recessive [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients