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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;   autosomal recessive spastic paraplegia 21;   autosomal recessive spastic paraplegia type 21;   hereditary spastic paraplegia 21
 primary_id: MESH:C565409
 alt_id: MIM:248900
 xref: ORDO:101001



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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
ISS
CTD Direct Evidence: marker/mechanism
OMIM:248900
ClinVar Annotator: match by term: Mast syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE
OMIM
CTD
MouseDO
ClinVar
PMID:6024251 PMID:9536098 PMID:14564668 PMID:16199547 PMID:17576681 More... NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      MAST syndrome 1
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      nervous system disease 14218
        central nervous system disease 12558
          brain disease 11786
            disease of mental health 8365
              cognitive disorder 2309
                dementia 874
                  MAST syndrome 1
paths to the root