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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 63
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Accession:DOID:0110814 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: SPG63;   autosomal recessive spastic paraplegia 63;   spastic paraplegia 63
 primary_id: OMIM:615686
 alt_id: RDO:9001114
 xref: ORDO:401805
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 63 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by OMIM:615686
ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive
OMIM
ClinVar
PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr 2:210,861,624...210,874,348
Ensembl chr 2:210,861,625...210,874,304
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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 63 1
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 63 1
paths to the root