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ONTOLOGY REPORT - ANNOTATIONS


Term:agnathia-otocephaly complex
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Accession:DOID:0060341 term browser browse the term
Definition:A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. (DO)
Synonyms:exact_synonym: AGOTC;   agnathia-holoprosencephaly;   agnathia-holoprosencephaly-situs inversus syndrome;   dysgnathia complex;   dysgnathia complex, agnathia-holoprosencephaly;   otocephaly
 primary_id: MESH:C537996;   MESH:C562503
 alt_id: OMIM:202650;   RDO:0003925;   RDO:0012202
 xref: ORDO:990
For additional species annotation, visit the Alliance of Genome Resources.


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agnathia-otocephaly complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:13592920
G Prrx1 paired related homeobox 1 JBrowse link 13 81,147,038 81,215,559 RGD:7240710
RGD:8554872
RGD:11554173
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:13592920

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  disease 14926
    physical disorder 748
      agnathia-otocephaly complex 3
Path 2
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  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        Congenital Abnormalities 3207
          Musculoskeletal Abnormalities 1198
            Craniofacial Abnormalities 953
              Maxillofacial Abnormalities 202
                Jaw Abnormalities 199
                  agnathia-otocephaly complex 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.