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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: KMT2E-RELATED CONDITION;   ODLURO
 narrow_synonym: ABNORMALITY OF THE CEREBELLAR VERMIS
 primary_id: OMIM:618512
 xref: EFO:0010277



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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: Abnormality of the cerebellar vermis | ClinVar Annotator: match by term: KMT2E-related condition | ClinVar Annotator: match by term: O'Donnell-Luria-Rodan syndrome OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31079897 PMID:35229910 NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      O'Donnell-Luria-Rodan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              Neurodevelopmental Disorders 6832
                O'Donnell-Luria-Rodan Syndrome 1
paths to the root