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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: OMIM: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 ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 More... NCBI chrNW_004936543:246,335...250,278
Ensembl chrNW_004936543:246,335...254,975 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          paraplegia 554
            hereditary spastic paraplegia 440
              hereditary spastic paraplegia 50 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            Chronic Brain Damage 100
              cerebral palsy 98
                spastic cerebral palsy 42
                  spastic quadriplegic cerebral palsy 39
                    hereditary spastic paraplegia 50 2
paths to the root