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DO Term : agnathia-otocephaly complex [DOID:0060341] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • otocephaly,
  • MESH:C562503,
  • dysgnathia complex agnathia-holoprosencephaly,
  • OMIM:202650,
  • ICD10CM:Q18.2,
  • 202650,
  • holoprosencephaly-agnathia,
  • agnathia-holoprosencephaly-situs inversus syndrome,
  • ORDO:990
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