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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
 alt_id: OMIM:248450


show annotations for term's descendants           Sort by:
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 term: Manitoba Trichoanal syndrome | ClinVar Annotator: match by term: Marles Greenberg Persaud syndrome | ClinVar Annotator: match by term: Marles syndrome OMIM
ClinVar		 PMID:9536098 PMID:11332973 PMID:17352387 PMID:17576681 PMID:19732862 More... NCBI chr 9:14,567,781...14,748,474
Ensembl chr 9:15,081,208...15,253,399 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10166
      Marles Greenberg Persaud Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6624
            eye disease 3375
              Eye Abnormalities 771
                coloboma 122
                  Marles Greenberg Persaud Syndrome 1
paths to the root