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ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0000749
 alt_id: OMIM:613545
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Macrostomia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:11554173
ablepharon macrostomia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:7240710
RGD:8554872
Barber-Say syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    sensory system disease 4659
      mouth disease 678
        Mouth Abnormalities 124
          Macrostomia 2
            Barber-Say syndrome 1
            Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 0
            ablepharon macrostomia syndrome 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Stomatognathic System Abnormalities 306
            Mouth Abnormalities 124
              Macrostomia 2
                Barber-Say syndrome 1
                Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 0
                ablepharon macrostomia syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.