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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
ClinVar Annotator: match by term: Lopes-Maciel-Rodan syndrome
ClinVar
OMIM
PMID:25741868 PMID:26740508 PMID:27329733 NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Lopes-Maciel-Rodan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            disease of mental health 7043
              Neurodevelopmental Disorders 5692
                Lopes-Maciel-Rodan Syndrome 1
paths to the root