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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;   autosomal recessive spastic paraplegia 44;   spastic paraplegia 44
 primary_id: MESH:C567707
 alt_id: OMIM:613206
 xref: MONDO:0013179;   ORDO:320401


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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 DNA:missense mutation:cds:p.I33M (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 44		 OMIM
CTD
ClinVar
RGD		 PMID:19056803 PMID:25741868 PMID:27057822 PMID:28492532 PMID:34055681 More... RGD:13208577 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          paraplegia 562
            hereditary spastic paraplegia 445
              hereditary spastic paraplegia 44 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          neurodegenerative disease 4906
            Nervous System Heredodegenerative Disorders 3255
              motor peripheral neuropathy 1201
                hereditary spastic paraplegia 445
                  hereditary spastic paraplegia 44 1
paths to the root