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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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Partington syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO DNA:duplication:exon:c.428-451dup (human)
ClinVar Annotator: match by term: Partington X-linked mental retardation syndrome
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 36
OMIM
ClinVar
PMID:2080994, PMID:3177452, PMID:5008734, PMID:8826464, PMID:10353782, PMID:10398246, PMID:11889467, PMID:11971879, PMID:12116222, PMID:12376938, PMID:12376946, PMID:12376949, PMID:12640086, PMID:15151512, PMID:15200506, PMID:15850492, PMID:16078051, PMID:16235064, PMID:17331656, PMID:17480217, PMID:20506206, PMID:21204215, PMID:25741868, PMID:26029707, PMID:28492532, PMID:24528893 RGD:11565843 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Partington syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              developmental disorder of mental health 3111
                specific developmental disorder 2287
                  intellectual disability 2107
                    syndromic intellectual disability 681
                      Mental Retardation, X-Linked 659
                        syndromic X-linked intellectual disability 584
                          Partington syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.