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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;   CPSQ3;   SPG50;   adaptor protein complex 4 deficiency;   autosomal recessive spastic paraplegia 50;   spastic quadriplegic cerebral palsy 3
 primary_id: MESH:C567858
 alt_id: OMIM:612936;   OMIM:617008
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
hereditary spastic paraplegia 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add3 adducin 3 ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar
PMID:23836506 PMID:25741868 NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by OMIM:612936
ClinVar Annotator: match by term: Spastic paraplegia 50, autosomal recessive
OMIM
ClinVar
PMID:18414213 PMID:19559397 PMID:21937992 PMID:24700674 PMID:25326635 More... NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          paraplegia 174
            hereditary spastic paraplegia 142
              hereditary spastic paraplegia 50 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            Chronic Brain Damage 21
              cerebral palsy 19
                spastic cerebral palsy 9
                  spastic quadriplegia 7
                    hereditary spastic paraplegia 50 2
paths to the root