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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
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 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 chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15277
    syndrome 9945
      Partington syndrome 1
Path 2
Term Annotations click to browse term
  disease 15277
    disease of anatomical entity 14911
      nervous system disease 12992
        central nervous system disease 11644
          brain disease 10936
            disease of mental health 7899
              developmental disorder of mental health 5364
                specific developmental disorder 4380
                  intellectual disability 4188
                    X-Linked Intellectual Developmental Disorders 794
                      syndromic X-linked intellectual disability 615
                        Partington syndrome 1
paths to the root