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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:Marles Greenberg Persaud Syndrome
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Accession:DOID:9003259 term browser browse the term
Synonyms:exact_synonym: MOTA;   Manitoba Oculotrichoanal Syndrome;   Manitoba Trichoanal syndrome;   Marles syndrome
 primary_id: MESH:C536022;   RDO:0001433
 alt_id: OMIM:248450
For additional species annotation, visit the Alliance of Genome Resources.


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Marles Greenberg Persaud Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by OMIM:248450
CTD Direct Evidence: marker/mechanism
DNA:deletion,frameshift,missense mutations:exons,cds:
DNA:mutation:splice junction:
ClinVar Annotator: match by term: Marles Greenberg Persaud syndrome
ClinVar Annotator: match by term: Manitoba Trichoanal syndrome
OMIM
ClinVar
CTD
PMID:11332973 PMID:17352387 PMID:21507892 PMID:21931569 PMID:23112756 More... RGD:11070482, RGD:11070482 NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Marles Greenberg Persaud Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          eye disease 2732
            Eye Abnormalities 399
              coloboma 109
                Marles Greenberg Persaud Syndrome 1
paths to the root