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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
 xref: ORDO:101008


show annotations for term's descendants           Sort by:
hereditary spastic paraplegia 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 ClinVar PMID:28492532 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G DDHD1 DDHD domain containing 1 IAGP
EXP		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 28
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 More... NCBI chr14:53,036,755...53,153,323
Ensembl chr14:53,036,745...53,153,323 		JBrowse link
G LOC130055658 ATAC-STARR-seq lymphoblastoid active region 8401 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 ClinVar PMID:28492532 NCBI chr14:53,152,149...53,152,348 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          paraplegia 718
            hereditary spastic paraplegia 568
              hereditary spastic paraplegia 28 3
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          neurodegenerative disease 6568
            Nervous System Heredodegenerative Disorders 4549
              motor peripheral neuropathy 1566
                hereditary spastic paraplegia 568
                  hereditary spastic paraplegia 28 3
paths to the root