X-linked complicated spastic paraplegia type 1

X-linked complicated spastic paraplegia type 1

http://purl.obolibrary.org/obo/MONDO_0017630

An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain. [ MONDO:cjm https://www.ncbi.nlm.nih.gov/books/NBK1484 ]

Synonyms: SPG1

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This is just here as a test because I lose it

Term information

database cross reference

GARD:12525 (Orphanet:306617)
UMLS:CN203524 (MONDO:equivalentTo)
Orphanet:306617 (MONDO:equivalentTo)

Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare

abbreviation

SPG1 [ Orphanet:306617 ]

exactMatch

http://www.orpha.net/ORDO/Orphanet_306617

http://linkedlifedata.com/resource/umls/id/CN203524

MONDO:0017630

Term relations

Subclass of:

L1 syndrome
X-linked recessive disease
has material basis in germline mutation in some L1CAM