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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 50
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Accession:DOID:0110802 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. (DO)
Synonyms:exact_synonym: AP-4 deficiency syndrome;   AP-4-associated hereditary spastic paraplegia;   SPG50;   adaptor protein complex 4 deficiency;   autosomal recessive spastic paraplegia 50
 primary_id: MESH:C567858
 alt_id: MIM:612936


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hereditary spastic paraplegia 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 More... NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Mcm7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:32979048 NCBI chr12:17,042,207...17,049,470
Ensembl chr12:17,042,212...17,050,063 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          paraplegia 696
            hereditary spastic paraplegia 457
              hereditary spastic paraplegia 50 3
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            Chronic Brain Damage 108
              cerebral palsy 106
                spastic cerebral palsy 47
                  spastic quadriplegic cerebral palsy 43
                    hereditary spastic paraplegia 50 3
paths to the root