FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term agnathia-otocephaly complex ID (Ontology) DOID:0060341 (Human Disease)
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.
Also Known As "agnathia-holoprosencephaly-situs inversus syndrome" ; "dysgnathia complex agnathia-holoprosencephaly" ; "holoprosencephaly-agnathia" (for all, see Synonyms field below)
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 Genes
 agnathia-otocephaly complex       1
 for disease ribbon | agnathia-otocephaly complex       1
 model of | agnathia-otocephaly complex       1
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   |__physical disorder
       |__agnathia-otocephaly complex  1 rec.
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Synonyms
  • "agnathia-holoprosencephaly-situs inversus syndrome" EXACT
    "dysgnathia complex agnathia-holoprosencephaly" EXACT
    "holoprosencephaly-agnathia" EXACT
    "otocephaly" EXACT
Secondary IDs
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ICD10CM:Q18.2
MESH:C562503
MIM:202650
ORDO:990