You are using an outdated browser. Please upgrade your browser to improve your experience.

agnathia-otocephaly complex

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.
Uniprot Description A rare condition 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. The disorder is almost always lethal.
Disease Ontology 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.
Mondo Term and Equivalent IDs
MONDO:0008740:  agnathia-otocephaly complex
GARD:0009126: 
NCIT:C124568: 
Orphanet:990: 
SCTID:48180002: 
UMLS:CN207252: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)