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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:26740508, PMID:27329733 NCBI chr14:81,105,139...81,254,637
Ensembl chr14:81,105,139...81,254,637
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Lopes-Maciel-Rodan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              Neurodevelopmental Disorders 4556
                Lopes-Maciel-Rodan Syndrome 1
paths to the root

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