WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060341 agnathia-otocephaly complex 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.

1 Ontology

Name
Disease Ontology

3 Parents

Identifier Name Description
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
DOID:0060341 agnathia-otocephaly complex 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.

2 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080015 DOID:0060341
is_a DOID:4 DOID:0060341

4 Synonyms

Name Type
agnathia-holoprosencephaly-situs inversus syndrome synonym
dysgnathia complex agnathia-holoprosencephaly synonym
holoprosencephaly-agnathia synonym
otocephaly synonym