Spastic paraplegia 33, autosomal dominant

Preferred Label : Spastic paraplegia 33, autosomal dominant;

Symbol : SPG33;

CISMeF acronym : SPG33;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger FYVE-domain containing protein-27 gene (ZFYVE27, 610243.0001);

Prefixed ID : %610244;

Details

Origin ID

610244;

UMLS CUI

C1853251;

Automatic exact mappings (from CISMeF team)
- hereditary spastic paraplegia 33 [DO Concept]
- zinc finger FYVE-type containing 27 [HGNC gene]
Currated CISMeF NLP mapping
- spastic paraplegia 33, autosomal dominant [MeSH concept]
- spastic paraplegia 33, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 33 [DO Concept]
HPO term(s)
- Ankle clonus [HPO term]
- Ankle or knee clonus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Hyperreflexia [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Talipes equinovarus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spastic paraplegia 33, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 33, autosomal dominant [MeSH concept]

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