Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 4
go back to main search page
Accession:DOID:0110792 term browser browse the term
Definition:A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. (DO)
Synonyms:exact_synonym: FSP2;   SPG4;   autosomal dominant spastic paraplegia 4;   autosomal dominant spastic paraplegia type 4;   familial spastic paraplegia autosomal dominant 2;   spastic paraplegia 4;   spastic paraplegia type 4
 related_synonym: spastic paraplegia 4, modifier of
 primary_id: MESH:C536865;   MESH:C580456
 alt_id: OMIM:182601
 xref: NCI:C129981;   ORDO:100985


show annotations for term's descendants           Sort by:
hereditary spastic paraplegia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC6 baculoviral IAP repeat containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr2A:32,373,479...32,633,088
Ensembl chr2A:33,084,929...33,343,245 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956 		JBrowse link
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:28492532 NCBI chr2A:32,044,604...32,060,204
Ensembl chr2A:32,111,566...32,125,242 		JBrowse link
G FGG fibrinogen gamma chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr 4:146,970,671...146,979,348
Ensembl chr 4:158,788,966...158,797,237 		JBrowse link
G GNAS GNAS complex locus ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:8388883 PMID:23281139 PMID:25741868 PMID:25802881 PMID:28492532 More... NCBI chr20:55,190,607...55,262,245 JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 NCBI chr2A:32,956,937...33,409,286
Ensembl chr2A:33,667,191...34,120,602 		JBrowse link
G MEMO1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr2A:31,887,899...32,032,155
Ensembl chr2A:31,956,831...32,051,337 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr2A:32,241,782...32,284,041
Ensembl chr2A:32,954,185...32,996,465 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:9990351 PMID:10999831 PMID:25741868 NCBI chr  X:6,296,597...6,376,197
Ensembl chr  X:13,611,304...13,664,512 		JBrowse link
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:12415272 PMID:15994862 PMID:25741868 PMID:25741869 PMID:28492532 NCBI chr  X:123,521,956...123,578,256
Ensembl chr  X:133,822,260...133,873,990 		JBrowse link
G SLC30A6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr2A:32,183,308...32,238,261
Ensembl chr2A:32,896,053...32,953,830 		JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of		 OMIM
ClinVar		 PMID:2504538 PMID:9536098 PMID:9695811 PMID:10493830 PMID:10610178 More... NCBI chr2A:32,085,245...32,175,137
Ensembl chr2A:32,150,792...32,885,029 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr2A:31,542,646...31,597,394
Ensembl chr2A:31,610,487...31,665,718 		JBrowse link
G TCF4 transcription factor 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25741868 NCBI chr18:48,603,069...48,969,010
Ensembl chr18:51,938,357...52,352,030 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:9990351 PMID:10999831 PMID:25741868 NCBI chr  X:6,321,264...6,341,650
Ensembl chr  X:13,609,852...13,629,916 		JBrowse link
G TTC27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr2A:32,642,274...32,837,116
Ensembl chr2A:33,353,005...33,548,832 		JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:28492532 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455 		JBrowse link
G YIPF4 Yip1 domain family member 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 ClinVar PMID:25065914 PMID:25741868 NCBI chr2A:32,296,515...32,333,490
Ensembl chr2A:33,008,485...33,036,535 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          paraplegia 570
            hereditary spastic paraplegia 451
              hereditary spastic paraplegia 4 18
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          neurodegenerative disease 4734
            Nervous System Heredodegenerative Disorders 3268
              motor peripheral neuropathy 1213
                hereditary spastic paraplegia 451
                  hereditary spastic paraplegia 4 18
paths to the root