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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: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3;   CPSQ3;   SPG50;   autosomal recessive spastic paraplegia 50
 primary_id: MESH:C567858;   OMIM:617008
 alt_id: OMIM:612936;   RDO:0009726;   RDO:0012069
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 1:273,854,195...273,961,982
Ensembl chr 1:273,854,248...273,961,982
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 PMID:25558065 PMID:25741868 PMID:26077850 PMID:28492532 PMID:29096665 NCBI chr12:19,314,222...19,320,339
Ensembl chr12:19,314,251...19,320,142
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          paraplegia 151
            hereditary spastic paraplegia 135
              hereditary spastic paraplegia 50 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          neurodegenerative disease 3216
            Nervous System Heredodegenerative Disorders 1915
              motor peripheral neuropathy 526
                hereditary spastic paraplegia 135
                  hereditary spastic paraplegia 50 2
paths to the root