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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: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 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          paraplegia 163
            hereditary spastic paraplegia 147
              hereditary spastic paraplegia 3A 2
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 3A 2
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.