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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:Delpire-McNeill Syndrome
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Accession:DOID:9004923 term browser browse the term
Definition:A neurodevelopmental disorder with highly variable manifestations. Patients present in infancy with global developmental delay, including motor, speech, and impaired intellectual development. (OMIM)
Synonyms:exact_synonym: DELMNES
 primary_id: OMIM:619083
For additional species annotation, visit the Alliance of Genome Resources.


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Delpire-McNeill Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: DELPIRE-MCNEILL SYNDROME OMIM
ClinVar
PMID:32658972 NCBI chr18:52,917,124...52,985,281
Ensembl chr18:52,917,124...52,985,261
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Delpire-McNeill Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              Neurodevelopmental Disorders 4520
                Delpire-McNeill Syndrome 1
paths to the root