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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
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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
For additional species annotation, visit the Alliance of Genome Resources.


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: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:21,900,763...22,092,484
Ensembl chr 6:21,950,100...22,092,346
JBrowse link
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:22,296,128...22,316,894
Ensembl chr 6:22,296,128...22,316,894
JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:21,203,502...21,600,441
Ensembl chr 6:21,203,502...21,600,451
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:22,197,003...22,226,364
Ensembl chr 6:22,197,040...22,226,421
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant
ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
ClinVar Annotator: match by OMIM:182601
OMIM
ClinVar
PMID:9695811, PMID:10493830, PMID:10610178, PMID:10699187, PMID:10980739, PMID:11015453, PMID:11039577, PMID:11087788, PMID:11134375, PMID:11309678, PMID:11704932, PMID:11809724, PMID:11843700, PMID:11985387, PMID:12124993, PMID:12161613, PMID:12202986, PMID:12471215, PMID:12552568, PMID:12736085, PMID:12939659, PMID:14681884, PMID:14732620, PMID:15210521, PMID:15248095, PMID:15326248, PMID:15482961, PMID:15637712, PMID:15667412, PMID:15716377, PMID:15841487, PMID:16009377, PMID:16009769, PMID:16055926, PMID:16240363, PMID:16476945, PMID:16682546, PMID:16788734, PMID:16832076, PMID:17035675, PMID:17098887, PMID:17100993, PMID:17101632, PMID:17345589, PMID:17560499, PMID:17594340, PMID:17597328, PMID:17598600, PMID:17895902, PMID:17916079, PMID:17957230, PMID:17971434, PMID:18190593, PMID:18410514, PMID:18608088, PMID:18613979, PMID:18664244, PMID:18701882, PMID:18975132, PMID:19423133, PMID:19438933, PMID:19453301, PMID:19875132, PMID:20214791, PMID:20301339, PMID:20430936, PMID:20491894, PMID:20550563, PMID:20559269, PMID:20562464, PMID:20665701, PMID:20718791, PMID:20932283, PMID:21546041, PMID:21659953, PMID:22203332, PMID:22552817, PMID:22554690, PMID:22817815, PMID:22960362, PMID:23122959, PMID:23252998, PMID:23279441, PMID:23400676, PMID:23438842, PMID:23833562, PMID:24033003, PMID:24033266, PMID:24215330, PMID:24267886, PMID:24381312, PMID:24451228, PMID:24478365, PMID:24690193, PMID:24731568, PMID:24824479, PMID:25045380, PMID:25065914, PMID:25315759, PMID:25326635, PMID:25326637, PMID:25341883, PMID:25421405, PMID:25454648, PMID:25525159, PMID:25658484, PMID:25741868, PMID:25741869, PMID:26086985, PMID:26094131, PMID:26165777, PMID:26208798, PMID:26374131, PMID:26467025, PMID:26600529, PMID:26671083, PMID:27084228, PMID:27108959, PMID:27260292, PMID:27276562, PMID:27334366, PMID:27688599, PMID:27871443, PMID:27942873, PMID:27957547, PMID:28160950, PMID:28492532, PMID:28495799, PMID:28572275, PMID:29246610, PMID:29691679, PMID:29908077, PMID:29934652, PMID:29980238, PMID:30311386, PMID:30520996, PMID:30564185, PMID:31134136 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Ttc27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:21,735,833...21,880,008
Ensembl chr 6:21,735,834...21,880,003
JBrowse link
G Yipf4 Yip1 domain family, member 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:22,126,870...22,138,286
Ensembl chr 6:22,126,870...22,138,286
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          paraplegia 163
            hereditary spastic paraplegia 147
              hereditary spastic paraplegia 4 8
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          neurodegenerative disease 3190
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                hereditary spastic paraplegia 147
                  hereditary spastic paraplegia 4 8
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.