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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 54
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Accession:DOID:0110806 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. (DO)
Synonyms:exact_synonym: SPG54;   autosomal recessive spastic paraplegia 54;   autosomal recessive spastic paraplegia type 54
 primary_id: OMIM:615033
 alt_id: RDO:9001083
 xref: ORDO:320380


show annotations for term's descendants           Sort by:
hereditary spastic paraplegia 54 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917 		JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Ash2l ASH2 like histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061 		JBrowse link
G Bag4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,288,678...66,305,893
Ensembl chr16:66,288,678...66,308,663 		JBrowse link
G Brf2 BRF2, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,928,334...64,933,057
Ensembl chr16:64,928,300...64,933,059 		JBrowse link
G Ddhd2 DDHD domain containing 2 ISO
ISS		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
CTD Direct Evidence: marker/mechanism
OMIM:615033		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:16636240 PMID:17576681 PMID:23176823 More... NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984 		JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Got1l1 glutamic-oxaloacetic transaminase 1-like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,860,308...64,873,656
Ensembl chr16:64,860,704...64,866,162 		JBrowse link
G Htra4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:67,001,605...67,015,074
Ensembl chr16:67,001,605...67,015,074 		JBrowse link
G Letm2 leucine zipper and EF-hand containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852 		JBrowse link
G Nsd3 nuclear receptor binding SET domain protein 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423 		JBrowse link
G Plekha2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,938,684...67,000,661
Ensembl chr16:66,939,109...66,999,395 		JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:65,003,292...65,014,886
Ensembl chr16:65,002,223...65,014,886 		JBrowse link
G Plpp5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,349,483...66,353,887
Ensembl chr16:66,349,502...66,464,797 		JBrowse link
G Rab11fip1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:64,886,902...64,917,491
Ensembl chr16:64,884,676...64,917,491 		JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672 		JBrowse link
G Tacc1 transforming, acidic coiled-coil containing protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:66,812,232...66,895,736
Ensembl chr16:66,812,295...66,895,733 		JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 ClinVar PMID:28492532 NCBI chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          paraplegia 562
            hereditary spastic paraplegia 445
              hereditary spastic paraplegia 54 22
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          neurodegenerative disease 4906
            Nervous System Heredodegenerative Disorders 3255
              motor peripheral neuropathy 1201
                hereditary spastic paraplegia 445
                  hereditary spastic paraplegia 54 22
paths to the root