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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 DNA:duplication:exon:c.428-451dup (human)
ClinVar Annotator: match by term: Mental retardation, X-linked, with dystonic movements, ataxia, and seizures
ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome
ClinVar Annotator: match by term: Partington syndrome
OMIM
ClinVar
RGD
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... RGD:11565843 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Partington syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    syndromic intellectual disability 759
                      Mental Retardation, X-Linked 718
                        syndromic X-linked intellectual disability 590
                          Partington syndrome 1
paths to the root