Spastic paraplegia 77, autosomal recessive

Preferred Label : Spastic paraplegia 77, autosomal recessive;

Symbol : SPG77;

CISMeF acronym : SPG77;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial phenylalanyl-tRNA synthetase 2 gene (FARS2, 611592.0005);

Prefixed ID : #617046;

Details

Origin ID

617046;

UMLS CUI

C5569007;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 77 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 77 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 77 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 77 [DO Concept]
Genes related to phenotype
- Phenylalanyl-trna synthetase 2, mitochondrial [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Hyperreflexia [HPO term]
- Lower limb amyotrophy [HPO term]
- Slowly progressive [HPO term]
- Spastic paraplegia [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 77 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 77 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 77 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 77 [DO Concept]

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