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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:MAST syndrome
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Accession:DOID:0060245 term browser browse the term
Definition:A hereditary spastic paraplegia associated with dementia. (DO)
Synonyms:exact_synonym: SPG21;   Spastic Paraplegia 21, Autosomal Recessive;   autosomal recessive spastic paraplegia type 21;   hereditary spastic paraplegia 21
 primary_id: MESH:C565409;   RDO:0014052
 alt_id: OMIM:248900
 xref: ORDO:101001
For additional species annotation, visit the Alliance of Genome Resources.


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MAST syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by OMIM:248900
ClinVar Annotator: match by term: Mast syndrome
OMIM
ClinVar
PMID:6024251 PMID:14564668 PMID:24451228 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:70,994,531...71,022,302
Ensembl chr 8:70,994,563...71,022,331
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      MAST syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              cognitive disorder 1908
                dementia 675
                  MAST syndrome 1
paths to the root