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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 Paralysis, Infantile Onset Ascending
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Accession:DOID:9005843 term browser browse the term
Synonyms:exact_synonym: Iahsp;   Spastic Paralysis, Infantile Onset Ascending
 primary_id: MESH:C537217
 alt_id: OMIM:607225


show annotations for term's descendants           Sort by:
Hereditary Spastic Paralysis, Infantile Onset Ascending term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending OMIM
ClinVar		 PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 More... NCBI chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623 		JBrowse link
G MPP4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr2B:88,898,091...88,951,597
Ensembl chr2B:207,053,077...207,102,360 		JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis ClinVar PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 NCBI chr2B:88,873,362...88,896,689
Ensembl chr2B:207,028,061...207,051,206 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15264
      nervous system disease 13298
        central nervous system disease 11928
          paraplegia 570
            hereditary spastic paraplegia 451
              Hereditary Spastic Paralysis, Infantile Onset Ascending 3
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15264
      nervous system disease 13298
        central nervous system disease 11928
          neurodegenerative disease 4736
            Nervous System Heredodegenerative Disorders 3271
              motor peripheral neuropathy 1213
                hereditary spastic paraplegia 451
                  Hereditary Spastic Paralysis, Infantile Onset Ascending 3
paths to the root