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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:ataxia-oculomotor apraxia type 4
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Accession:DOID:0081383 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: AOA4;   Ataxia with Oculomotor Apraxia Type 4;   Ataxia-Oculomotor Apraxia 4
 primary_id: MIM:616267
 alt_id: DOID:9004565
 xref: EFO:0009016;   GARD:13111;   ORDO:459033


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ataxia-oculomotor apraxia type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4
ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4		 OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      primary immunodeficiency disease 4421
        ataxia telangiectasia 101
          ataxia-oculomotor apraxia type 4 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            movement disease 2625
              Dyskinesias 2227
                Ataxia 953
                  Spinocerebellar Ataxias 555
                    cerebellar ataxia 480
                      autosomal recessive cerebellar ataxia 167
                        ataxia telangiectasia 101
                          ataxia-oculomotor apraxia type 4 1
paths to the root