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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:IMAGAWA-MATSUMOTO SYNDROME
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Accession:DOID:9001800 term browser browse the term
Definition:A disease characterized by variable pre- and postnatal overgrowth; dysmorphic features including postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge; and variable musculoskeletal abnormalities.
Synonyms:exact_synonym: IMMAS;   SUZ12-RELATED CONDITION
 primary_id: MIM:618786


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IMAGAWA-MATSUMOTO SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Imagawa-Matsumoto syndrome | ClinVar Annotator: match by term: SUZ12-related condition OMIM
ClinVar		 PMID:25741868 PMID:28229514 PMID:28492532 PMID:30019515 PMID:31736240 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Neurodevelopmental Disorders 6965
        IMAGAWA-MATSUMOTO SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            disease of mental health 8443
              Neurodevelopmental Disorders 6965
                IMAGAWA-MATSUMOTO SYNDROME 1
paths to the root