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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:MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
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Accession:DOID:9004901 term browser browse the term
Synonyms:exact_synonym: MRAMS
 primary_id: OMIM:613671;   RDO:0009935
For additional species annotation, visit the Alliance of Genome Resources.


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MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sobp sine oculis binding protein homolog ISO ClinVar Annotator: match by OMIM:613671
ClinVar Annotator: match by term: Mental retardation, anterior maxillary protrusion, and strabismus
OMIM
ClinVar
PMID:17618476 PMID:21035105 PMID:25741868 NCBI chr20:47,731,713...47,910,466
Ensembl chr20:47,750,762...47,910,375
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Neurodevelopmental Disorders 4657
        intellectual disability 2190
          MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 1
paths to the root