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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:spastic ataxia 4
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Accession:DOID:0050943 term browser browse the term
Definition:A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11. (DO)
Synonyms:exact_synonym: MTPAP-RELATED CONDITION;   SPAX4;   spastic ataxia 4, autosomal recessive
 primary_id: OMIM:613672


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spastic ataxia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130003597 ATAC-STARR-seq lymphoblastoid active region 3206 IAGP ClinVar Annotator: match by term: Spastic ataxia 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:30,349,070...30,349,119 JBrowse link
G MTPAP mitochondrial poly(A) polymerase IAGP
EXP		 ClinVar Annotator: match by term: Spastic ataxia 4
ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:20970105 PMID:24651433 PMID:25008111 PMID:25741868 PMID:26319014 More... NCBI chr10:30,309,801...30,349,278
Ensembl chr10:30,309,801...30,374,448 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Neurodevelopmental Disorders 13563
        intellectual disability 7166
          spastic ataxia 94
            spastic ataxia 4 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              developmental disorder of mental health 12014
                specific developmental disorder 7407
                  intellectual disability 7166
                    spastic ataxia 94
                      spastic ataxia 4 2
paths to the root