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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 3A
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Accession:DOID:0110791 term browser browse the term
Definition:A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. (DO)
Synonyms:exact_synonym: FSP1;   SPG3;   SPG3A;   Strumpell disease;   autosomal dominant familial spastic paraplegia 1;   autosomal dominant spastic paraplegia 3;   autosomal dominant spastic paraplegia type 3;   spastic paraplegia 3;   spastic paraplegia 3A;   spastic paraplegia type 3A
 primary_id: MESH:C536864
 alt_id: OMIM:182600
 xref: GARD:5041;   NCI:C142893;   ORDO:100984
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A
ClinVar Annotator: match by OMIM:182600
ClinVar Annotator: match by term: Spastic paraplegia 3
OMIM
ClinVar
PMID:4684346 PMID:8252041 PMID:11685207 PMID:12112092 PMID:12499504 PMID:12939451 PMID:14607301 PMID:14695538 PMID:15184642 PMID:15477516 PMID:15517445 PMID:15596607 PMID:15742100 PMID:16401858 PMID:16533974 PMID:16537571 PMID:16612642 PMID:17285536 PMID:17321752 PMID:17427918 PMID:17502470 PMID:17992088 PMID:19423133 PMID:19459885 PMID:19652243 PMID:19768483 PMID:20718791 PMID:20816793 PMID:20862796 PMID:20932283 PMID:20947813 PMID:21194679 PMID:21220294 PMID:21321493 PMID:21336785 PMID:21368113 PMID:22552817 PMID:22581552 PMID:23079343 PMID:23108492 PMID:23233086 PMID:23483706 PMID:23999326 PMID:24417445 PMID:24451228 PMID:24482476 PMID:24604904 PMID:25326635 PMID:25454648 PMID:25637064 PMID:25741868 PMID:25741869 PMID:25761634 PMID:26208798 PMID:26467025 PMID:26671083 PMID:28492532 PMID:28736820 PMID:29691679 PMID:29907907 PMID:29980238 PMID:32488064 PMID:32581362 PMID:32860008 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
JBrowse link
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:28492532 NCBI chr 6:92,136,242...92,229,578
Ensembl chr 6:92,136,992...92,229,260
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          paraplegia 162
            hereditary spastic paraplegia 146
              hereditary spastic paraplegia 3A 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          neurodegenerative disease 3235
            Nervous System Heredodegenerative Disorders 1952
              motor peripheral neuropathy 536
                hereditary spastic paraplegia 146
                  hereditary spastic paraplegia 3A 2
paths to the root