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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:Lopes-Maciel-Rodan Syndrome
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Accession:DOID:9000409 term browser browse the term
Synonyms:exact_synonym: LOMARS
 primary_id: OMIM:617435
 alt_id: RDO:9001710
 xref: EFO:0009904
For additional species annotation, visit the Alliance of Genome Resources.


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Lopes-Maciel-Rodan Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htt huntingtin ISO ClinVar Annotator: match by term: Lopes-Maciel-Rodan syndrome OMIM
ClinVar		 PMID:25741868 PMID:26740508 PMID:27329733 PMID:28492532 PMID:33116287 NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    syndrome 10787
      Lopes-Maciel-Rodan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      nervous system disease 14106
        central nervous system disease 12331
          brain disease 11574
            disease of mental health 8171
              Neurodevelopmental Disorders 6720
                Lopes-Maciel-Rodan Syndrome 1
paths to the root