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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 72A
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Accession:DOID:0110817 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2. (DO)
Synonyms:exact_synonym: SPG72;   autosomal spastic paraplegia type 72;   hereditary spastic paraplegia 72;   spastic paraplegia 72, autosomal dominant;   spastic paraplegia 72, autosomal recessive
 narrow_synonym: autosomal dominant spastic paraplegia type 72;   autosomal recessive spastic paraplegia type 72
 related_synonym: SPG72B;   spastic paraplegia 72B, autosomal recessive
 primary_id: OMIM:615625
 alt_id: OMIM:620606
 xref: ORDO:401849


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hereditary spastic paraplegia 72A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia 72b, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:24388663 PMID:24482476 PMID:25741868 More... NCBI chr18:26,438,130...26,447,165
Ensembl chr18:26,438,346...26,447,161 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          paraplegia 562
            hereditary spastic paraplegia 445
              hereditary spastic paraplegia 72A 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          neurodegenerative disease 4894
            Nervous System Heredodegenerative Disorders 3248
              motor peripheral neuropathy 1202
                hereditary spastic paraplegia 445
                  hereditary spastic paraplegia 72A 1
paths to the root