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Spastic paraplegia 3, autosomal dominant (CUI C2931355) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C2931355

NCI Thesaurus Code: C142893  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal dominant subtype of hereditary spastic paraplegia caused by mutation(s) in the ATL1 gene, encoding atlastin-1.

Synonyms & Abbreviations: (see Synonym Details)
Autosomal dominant spastic paraplegia type 3
Familial spastic paraplegia, autosomal dominant, 1
FSP1
Spastic paraplegia 3, autosomal dominant
Spastic Paraplegia 3a
Spastic paraplegia 3
Spastic Paraplegia Type 3a
SPG3A
SPG3
Strumpell disease
Strümpell disease

External Source Codes: 
NCI Thesaurus Code C142893 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DISEASE_IDENTIFIER_ID 15417 GARD
DISEASE_IDENTIFIER_ID 15418 GARD
DISEASE_IDENTIFIER_ID 15419 GARD
DISEASE_IDENTIFIER_ID 30227 GARD
DISEASE_IDENTIFIER_ID 30228 GARD
FR 20 MSH
GENELOCUS ,1,4,q,1,1,-,q,2,1, OMIM
GENESYMBOL ATL1 OMIM
GENESYMBOL HSN1D OMIM
GENESYMBOL SPG3A OMIM
HAS_GARD_PAGE true GARD
HM D015419 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 20100825 MSH
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150818 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5041/spastic-paraplegia-3/resources/1 GARD
RN 0 MSH
SC 3 MSH
TERMUI T000880803 MSH
TERMUI T000880804 MSH
TERMUI T000880805 MSH
TERMUI T000880806 MSH
TERMUI T740691 MSH
TERMUI T740694 MSH
TERMUI T740695 MSH
TH GHR (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C2931355

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