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Disease Ontology Browser
agnathia-otocephaly complex (DOID:0060341)
Alliance: disease page
Synonyms: agnathia-holoprosencephaly-situs inversus syndrome; dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; otocephaly
Alt IDs: OMIM:202650, ICD10CM:Q18.2, ORDO:990
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory