OBO ID: DOID:0060341
Term Name: agnathia-otocephaly complex Search Ontology:
Synonyms:
  • agnathia-holoprosencephaly-situs inversus syndrome
  • dysgnathia complex agnathia-holoprosencephaly
  • holoprosencephaly-agnathia
  • otocephaly
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. https://www.ncbi.nlm.nih.gov/pubmed/17438667
References:
Ontology: Human Disease   ( DOID:0060341 )
Relationships
is a type of:
OTHER agnathia-otocephaly complex PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRRX1 Agnathia-otocephaly complex 202650
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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