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RGD uses the Human Disease Ontology (DO, 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.

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 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
PMID:11332973 PMID:17352387 PMID:21507892 PMID:21931569 PMID:23112756 PMID:23221805 PMID:23333812 PMID:23806086 PMID:24088041 PMID:24115501 PMID:25736269 PMID:25741868 PMID:26893459 PMID:28492532, PMID:21507892, PMID:21507892 RGD:11070482, RGD:11070482 NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      Marles Greenberg Persaud Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          eye disease 2646
            Eye Abnormalities 357
              coloboma 85
                Marles Greenberg Persaud Syndrome 1
paths to the root