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hereditary spastic paraplegia 28 - Ontology Report - Rat Genome Database

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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: DDHD1-RELATED CONDITION;   SPG28;   autosomal recessive spastic paraplegia 28;   autosomal recessive spastic paraplegia type 28
 primary_id: MESH:C563732
 alt_id: MIM:609340
 xref: ORDO:101008

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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 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 ClinVar PMID:28492532 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G DDHD1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: DDHD1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 OMIM
ClinVar		 PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 More... NCBI chr24:30,156,657...30,280,421
Ensembl chr24:30,157,406...30,280,289 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    disease of anatomical entity 15080
      nervous system disease 13233
        central nervous system disease 11823
          paraplegia 688
            hereditary spastic paraplegia 465
              hereditary spastic paraplegia 28 2
Path 2
Term Annotations click to browse term
  disease 15417
    disease of anatomical entity 15080
      nervous system disease 13233
        central nervous system disease 11823
          neurodegenerative disease 4839
            Nervous System Heredodegenerative Disorders 3326
              motor peripheral neuropathy 1305
                hereditary spastic paraplegia 465
                  hereditary spastic paraplegia 28 2
paths to the root