spastic paraplegia 44, autosomal recessive

Preferred Label : spastic paraplegia 44, autosomal recessive;

MeSH note : also known as SPG44; associated with mutations of GJC2 gene which encodes gap junction protein, gamma-2;

Détails

Origin ID

C567707;

UMLS CUI

C2750784;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 44 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 44 (disorder) [SNOMED CT concept]
- Spastic paraplegia 44, autosomal recessive [OMIM Phenotype]
- hereditary spastic paraplegia 44 [DO Concept]
MeSH term(s) associated for indexing
- spastic paraplegia, hereditary [MeSH Descriptor]
Record concept(s)
- spastic paraplegia 44, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 44 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 44 (disorder) [SNOMED CT concept]
- Spastic paraplegia 44, autosomal recessive [OMIM Phenotype]
- hereditary spastic paraplegia 44 [DO Concept]

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