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RGD uses the Human Disease Ontology (DO, 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
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 16058
    syndrome 6996
      Partington syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    syndromic intellectual disability 684
                      Mental Retardation, X-Linked 661
                        syndromic X-linked intellectual disability 585
                          Partington syndrome 1
paths to the root


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