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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 44
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Accession:DOID:0110796 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: SPG44;   Spastic Paraplegia 44;   autosomal recessive spastic paraplegia 44
 primary_id: MESH:C567707
 alt_id: OMIM:613206;   RDO:0012022
 xref: ORDO:320401
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by OMIM:613206
DNA:missense mutation:cds:p.I33M (human)
OMIM
ClinVar
PMID:19056803, PMID:19056803 RGD:13208577 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          paraplegia 163
            hereditary spastic paraplegia 147
              hereditary spastic paraplegia 44 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          neurodegenerative disease 3186
            Nervous System Heredodegenerative Disorders 1947
              motor peripheral neuropathy 537
                hereditary spastic paraplegia 147
                  hereditary spastic paraplegia 44 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.