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ONTOLOGY REPORT - ANNOTATIONS


Term:Partington syndrome
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Accession:DOID:14744 term browser browse the term
Definition:A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. (DO)
Synonyms:exact_synonym: MRX36;   MRXS1;   PRTS;   Partington X-linked mental retardation syndrome;   X-linked Russell-Silver syndrome;   X-linked mental retardation 36;   X-linked mental retardation, syndromic 1;   X-linked mental retardation, with dystonic movements, ataxia, and seizures;   mental retardation-dystonic movements-ataxia-seizures syndrome
 primary_id: MESH:C536300
 alt_id: OMIM:309510;   RDO:0001826
 xref: GARD:4235;   ORDO:94083
For additional species annotation, visit the Alliance of Genome Resources.


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Partington syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:11565843
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Partington syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        syndromic X-linked intellectual disability 45
                          Partington syndrome 1
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