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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:Impaired intellectual development, anterior maxillary protrusion, and strabismus
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Accession:DOID:9004901 term browser browse the term
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS;   MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS;   MRAMS;   SOBP-RELATED CONDITION
 xref: MIM:613671;   MONDO:0013353;   ORDO:562559


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Impaired intellectual development, 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 term: Intellectual disability, anterior maxillary protrusion, and strabismus | ClinVar Annotator: match by term: SOBP-related condition OMIM
ClinVar		 PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 NCBI chr20:46,482,265...46,661,452
Ensembl chr20:46,482,765...46,663,541 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Neurodevelopmental Disorders 6965
        intellectual disability 4384
          Impaired intellectual development, anterior maxillary protrusion, and strabismus 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            eye disease 3723
              refractive error 243
                hyperopia 51
                  strabismus 44
                    Impaired intellectual development, anterior maxillary protrusion, and strabismus 1
paths to the root