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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
 xref: GARD:4235;   ORDO:94083
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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 15553
    syndrome 5224
      Partington syndrome 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              developmental disorder of mental health 2729
                specific developmental disorder 1896
                  intellectual disability 1721
                    syndromic intellectual disability 677
                      Mental Retardation, X-Linked 658
                        syndromic X-linked intellectual disability 584
                          Partington syndrome 1
paths to the root

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