Spastic paraplegia 73, autosomal dominant

Preferred Label : Spastic paraplegia 73, autosomal dominant;

Symbol : SPG73;

CISMeF acronym : SPG73;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the carnitine palmitoyltransferase IC gene (CPT1C, 608846.0001);

Prefixed ID : #616282;

Details

Origin ID

616282;

UMLS CUI

C5568981;

CISMeF manual mappings
- hereditary spastic paraplegia 73 [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 73 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 73 (disorder) [SNOMED CT concept]
DO Cross reference
- hereditary spastic paraplegia 73 [DO Concept]
Genes related to phenotype
- Carnitine palmitoyltransferase ic [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Difficulty walking [HPO term]
- Hyperreflexia [HPO term]
- Proximal muscle weakness [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Spastic paraplegia [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 73 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 73 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 73 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 73 [DO Concept]

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