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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:O'Donnell-Luria-Rodan Syndrome
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Accession:DOID:9001969 term browser browse the term
Definition:A neurodevelopmental disorder characterized by global developmental delay, speech delay, variably delayed intellectual development, and subtle dysmorphic features.
Synonyms:exact_synonym: ODLURO
 primary_id: OMIM:618512
For additional species annotation, visit the Alliance of Genome Resources.


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O'Donnell-Luria-Rodan Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2e lysine methyltransferase 2E ISO ClinVar Annotator: match by term: O'Donnell-Luria-Rodan syndrome OMIM
ClinVar
PMID:25741868 PMID:31079897 NCBI chr 4:8,187,751...8,255,578
Ensembl chr 4:8,187,751...8,255,514
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      O'Donnell-Luria-Rodan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              Neurodevelopmental Disorders 4657
                O'Donnell-Luria-Rodan Syndrome 1
paths to the root