Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 2
go back to main search page
Accession:DOID:0110773 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. (DO)
Synonyms:exact_synonym: SPG2;   SPPX2;   X-linked spastic paraplegia 2;   spastic paraplegia 2;   spastic paraplegia type 2
 primary_id: MESH:C536857
 alt_id: OMIM:312920;   RDO:0002570
 xref: GARD:4923;   ORDO:99015
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hereditary spastic paraplegia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 NCBI chr  X:107,394,468...107,405,564
Ensembl chr  X:107,394,486...107,405,564
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED
ClinVar Annotator: match by term: Spastic paraplegia 2
OMIM
ClinVar
PMID:1720927 PMID:7522741 PMID:7531827 PMID:8012387 PMID:8320699 PMID:8659540 PMID:8723686 PMID:8956049 PMID:9056547 PMID:9247276 PMID:9427151 PMID:9489796 PMID:9536098 PMID:9633722 PMID:9634530 PMID:9934976 PMID:10319885 PMID:10417279 PMID:12601703 PMID:14452137 PMID:14745569 PMID:15712223 PMID:16287154 PMID:16380909 PMID:17438221 PMID:17576681 PMID:18160035 PMID:18414213 PMID:18470932 PMID:19328639 PMID:19825935 PMID:21679407 PMID:22101368 PMID:23344956 PMID:23347225 PMID:24139698 PMID:24890387 PMID:25741868 PMID:26125040 PMID:26467025 PMID:27535533 PMID:28366443 PMID:28492532 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Spastic paraplegia 2
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED
ClinVar PMID:7522741 PMID:7531827 PMID:8012387 PMID:8320699 PMID:8723686 PMID:8956049 PMID:9056547 PMID:9247276 PMID:9427151 PMID:9489796 PMID:9536098 PMID:9634530 PMID:9934976 PMID:10417279 PMID:12601703 PMID:14452137 PMID:14745569 PMID:15712223 PMID:16287154 PMID:16380909 PMID:17438221 PMID:17576681 PMID:18160035 PMID:18414213 PMID:18470932 PMID:19328639 PMID:19825935 PMID:21679407 PMID:22101368 PMID:23344956 PMID:24139698 PMID:24890387 PMID:25741868 PMID:26125040 PMID:26467025 PMID:27535533 PMID:28366443 PMID:28492532 NCBI chr  X:107,531,404...107,542,510
Ensembl chr  X:107,531,404...107,542,510
JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 NCBI chr  X:107,370,351...107,372,347
Ensembl chr  X:107,370,431...107,372,338
JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 NCBI chr  X:107,322,077...107,324,054
Ensembl chr 2:102,370,158...102,370,757
Ensembl chr  X:102,370,158...102,370,757
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          paraplegia 144
            hereditary spastic paraplegia 131
              hereditary spastic paraplegia 2 5
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          neurodegenerative disease 3348
            Nervous System Heredodegenerative Disorders 1976
              motor peripheral neuropathy 480
                hereditary spastic paraplegia 131
                  hereditary spastic paraplegia 2 5
paths to the root