Spastic paraplegia 75, autosomal recessive

Preferred Label : Spastic paraplegia 75, autosomal recessive;

Symbol : SPG75;

CISMeF acronym : SPG75;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the myelin-associated glycoprotein gene (MAG, 159460.0001);

Prefixed ID : #616680;

Details

Origin ID

616680;

UMLS CUI

C4225250;

Automatic exact mappings (from CISMeF team)
- MAG wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 75 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 75 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 75 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 75 [DO Concept]
Genes related to phenotype
- Myelin-associated glycoprotein [OMIM gene]
HPO term(s)
- Areflexia of lower limbs [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Cognitive impairment [HPO term]
- Corpus callosum atrophy [HPO term]
- Dysmetria [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Hypermetropia [HPO term]
- Hyporeflexia of lower limbs [HPO term]
- Hypotonia [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Peripheral neuropathy [HPO term]
- Reduced visual acuity [HPO term]
- Slowly progressive [HPO term]
- Spastic dysarthria [HPO term]
- Spastic paraparesis [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 75 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 75 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 75 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 75 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients