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RGD uses the Human Disease Ontology (DO, 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 OMIM 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 16058
    syndrome 6996
      O'Donnell-Luria-Rodan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              Neurodevelopmental Disorders 4582
                O'Donnell-Luria-Rodan Syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.