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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:Macrostomia
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Accession:DOID:9008205 term browser browse the term
Definition:Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)
Synonyms:exact_synonym: COMMISSURAL CLEFT, ISOLATED;   LATERAL CLEFT, ISOLATED;   MACROSTOMIA, ISOLATED;   Macrostomias;   TRANSVERSE CLEFT, ISOLATED
 primary_id: MESH:D008265
 alt_id: MIM:613545


show annotations for term's descendants           Sort by:
ablepharon macrostomia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Ablepharon macrostomia syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2036354 PMID:8746822 PMID:11038439 PMID:11807864 PMID:15103726 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222 		JBrowse link
Barber-Say syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Barber-Say syndrome		 OMIM
CTD
ClinVar		 PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Stomatognathic Diseases 1359
      Stomatognathic System Abnormalities 588
        Mouth Abnormalities 171
          Macrostomia 1
            Barber-Say syndrome 1
            Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 0
            ablepharon macrostomia syndrome 1
Path 2
Term Annotations click to browse term
  disease 19065
    Pathological Conditions, Signs and Symptoms 13511
      Signs and Symptoms 11070
        Neurologic Manifestations 10322
          sensory system disease 7235
            mouth disease 1031
              Mouth Abnormalities 171
                Macrostomia 1
                  Barber-Say syndrome 1
                  Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 0
                  ablepharon macrostomia syndrome 1
paths to the root