Spastic paraplegia 32, autosomal recessive

Preferred Label : Spastic paraplegia 32, autosomal recessive;

Symbol : SPG32;

CISMeF acronym : SPG32;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %611252;

Details

Origin ID

611252;

UMLS CUI

C1970009;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 32 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 32 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 32 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 32 [DO Concept]
- spastic paraplegia 32, autosomal recessive [MeSH concept]
- spastic paraplegia 32, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 32 [DO Concept]
HPO term(s)
- Ankle clonus [HPO term]
- Ankle or knee clonus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Childhood onset [HPO term]
- Difficulty walking [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability, mild [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Pes cavus [HPO term]
- Slowly progressive [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Thin corpus callosum [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 32 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 32 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 32 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 32 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 32 [DO Concept]
- spastic paraplegia 32, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 32, autosomal recessive [MeSH concept]

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