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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:9536098 PMID:11685207 PMID:12112092 More... NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
JBrowse link
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:9536098 PMID:17576681 PMID:26467025 PMID:28492532 NCBI chr 6:88,284,094...88,377,118
Ensembl chr 6:88,284,094...88,376,799
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          paraplegia 174
            hereditary spastic paraplegia 142
              hereditary spastic paraplegia 3A 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          neurodegenerative disease 3521
            Nervous System Heredodegenerative Disorders 2133
              motor peripheral neuropathy 502
                hereditary spastic paraplegia 142
                  hereditary spastic paraplegia 3A 2
paths to the root