RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: hereditary spastic paraplegia 8
Accession: DOID:0110823
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Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. (DO)
Synonyms: exact_synonym: SPG8; Spastic Paraplegia 8; Spg 8; autosomal dominant spastic paraplegia 8; autosomal dominant spastic paraplegia type 8; spastic paraplegia type 8
broad_synonym: WASHC5-RELATED CONDITION
primary_id: MESH:C580458
alt_id: OMIM:603563 ; RDO:0002580; RDO:0015929
xref: GARD:9591 ; ORDO:100989
G
DNM1L
dynamin 1 like
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
ClinVar
PMID:25741868
NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957
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NSD1
nuclear receptor binding SET domain protein 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
ClinVar
PMID:25741868
NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999
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NSMCE2
NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
ClinVar
PMID:28492532
NCBI chr13:23,078,143...23,288,302
Ensembl chr13:23,078,173...23,288,304
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SETBP1
SET binding protein 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:46,020,892...46,378,867
Ensembl chr 7:46,020,889...46,378,005
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TBK1
TANK binding kinase 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
ClinVar
PMID:25741868
NCBI chr10:7,169,664...7,208,890
Ensembl chr10:7,168,007...7,208,899
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WASHC5
WASH complex subunit 5
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: WASHC5-related condition
OMIM ClinVar
PMID:9536098 PMID:10797436 PMID:16199547 PMID:17160902 PMID:17576681 PMID:20301727 PMID:20833645 PMID:23085491 PMID:23455931 PMID:23881105 PMID:24065355 PMID:24123792 PMID:24215330 PMID:24451228 PMID:24759409 PMID:24824269 PMID:25741868 PMID:26467025 PMID:27957547 PMID:28492532 PMID:28514442 PMID:30564185 PMID:30778698 PMID:30896870 PMID:31227335 PMID:31814071 PMID:31911435 PMID:32816195 PMID:33662919 PMID:34184482 More...
NCBI chr13:23,019,422...23,078,073
Ensembl chr13:23,019,636...23,078,280
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