agnathia-otocephaly complex
http://purl.obolibrary.org/obo/MONDO_0008740
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. [ Orphanet:990 ]
Term info
- GARD:0009126 (MONDO:equivalentTo)
- ICD9:759.89 (MONDO:relatedTo)
- Orphanet:990 (OMIM:202650)
- UMLS:CN207252 (MONDO:equivalentTo)
- OMIM:202650 (Orphanet:990/e)
- SCTID:48180002 (MONDO:equivalentTo)
- DOID:0060341 (MONDO:equivalentTo)
- NCIT:C124568 (MONDO:equivalentTo)
ordo_malformation_syndrome
https://github.com/monarch-initiative/mondo/issues/5588
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.
http://purl.obolibrary.org/obo/Orphanet_990, http://linkedlifedata.com/resource/umls/id/CN207252, http://identifiers.org/snomedct/48180002, http://purl.obolibrary.org/obo/DOID_0060341, https://omim.org/entry/202650, http://purl.obolibrary.org/obo/NCIT_C124568
http://purl.obolibrary.org/obo/MONDO_0000508
otocephaly, holoprosencephaly-agnathia, agnathia-holoprosencephaly-situs inversus syndrome, agnathia-otocephaly complex, dysgnathia complex agnathia-holoprosencephaly
Dysgnathia Complex agnathia-holoprosencephaly, agnathia-holoprosencephaly, AGOTC
MONDO:0008740