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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 SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME;   X-linked Russell-Silver syndrome;   X-linked mental retardation 36;   X-linked mental retardation, with dystonic movements, ataxia, and seizures;   mental retardation-dystonic movements-ataxia-seizures syndrome;   syndromic X-linked intellectual developmental disorder 1;   syndromic X-linked mental retardation 1
 primary_id: MESH:C536300
 alt_id: OMIM:309510
 xref: GARD:4235;   ORDO:94083
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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 ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome OMIM
ClinVar		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chrNW_004955509:5,326,145...5,338,250 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      Partington syndrome 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            disease of mental health 7327
              developmental disorder of mental health 4976
                specific developmental disorder 4103
                  intellectual disability 3919
                    X-Linked Intellectual Developmental Disorders 710
                      syndromic X-linked intellectual disability 543
                        Partington syndrome 1
paths to the root