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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 28
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Accession:DOID:0110779 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22. (DO)
Synonyms:exact_synonym: SPG28;   autosomal recessive spastic paraplegia 28;   autosomal recessive spastic paraplegia type 28
 primary_id: MESH:C563732
 alt_id: OMIM:609340;   RDO:0012916
 xref: ORDO:101008
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by OMIM:609340
ClinVar Annotator: match by term: Spastic paraplegia 28, autosomal recessive
OMIM
ClinVar
PMID:15786464 PMID:23176821 PMID:28492532 NCBI chr15:19,963,639...20,032,263
Ensembl chr15:19,965,187...20,032,191
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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 28 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 28 1
paths to the root