Spastic paraplegia 83, autosomal recessive

Preferred Label : Spastic paraplegia 83, autosomal recessive;

Symbol : SPG83;

Type : Phenotype, molecular basis known;

Prefixed ID : #619027;

Details

Origin ID

619027;

UMLS CUI

C5436637;

Genes related to phenotype
- 4-hydroxyphenylpyruvate dioxygenase-like [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Dysphagia [HPO term]
- Gait ataxia [HPO term]
- Juvenile onset [HPO term]
- Lower limb hyperreflexia [HPO term]
- Muscle spasm [HPO term]
- Myalgia [HPO term]
- Paresthesia [HPO term]
- Progressive [HPO term]
- Spastic paraplegia [HPO term]
- Unsteady gait [HPO term]
- Urinary urgency [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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