Spastic paraplegia 64, autosomal recessive

Preferred Label : Spastic paraplegia 64, autosomal recessive;

Symbol : SPG64;

CISMeF acronym : SPG64;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ectonucleoside triphosphate diphosphohydrolase 1 gene (ENTPD1, 601752.0001);

Prefixed ID : #615683;

Details

Origin ID

615683;

UMLS CUI

C3810289;

Automatic exact mappings (from CISMeF team)
- ectonucleoside triphosphate diphosphohydrolase 1 [ORDO Gene]
- ectonucleoside triphosphate diphosphohydrolase 1 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 64 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 64 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 64 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 64 [DO Concept]
Genes related to phenotype
- Ectonucleoside triphosphate diphosphohydrolase 1 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed puberty [HPO term]
- Developmental cataract [HPO term]
- Dysarthria [HPO term]
- Gait disturbance [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, moderate [HPO term]
- Microcephaly [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spastic paraplegia [HPO term]
- Spasticity [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 64 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 64 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 64 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 64 [DO Concept]

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