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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:agnathia-otocephaly complex
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Accession:DOID:0060341 term browser browse the term
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. (DO)
Synonyms:exact_synonym: AGOTC;   agnathia-holoprosencephaly;   agnathia-holoprosencephaly-situs inversus syndrome;   dysgnathia complex;   dysgnathia complex, agnathia-holoprosencephaly;   otocephaly
 primary_id: MESH:C537996;   MESH:C562503
 alt_id: OMIM:202650;   RDO:0003925;   RDO:0012202
 xref: ICD10CM:Q18.2;   ORDO:990
For additional species annotation, visit the Alliance of Genome Resources.


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agnathia-otocephaly complex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 ISS OMIM:202650 MouseDO NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex
ClinVar Annotator: match by term: Dysgnathia complex
ClinVar Annotator: match by OMIM:202650
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868 NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:202650 MouseDO NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    physical disorder 2958
      agnathia-otocephaly complex 3
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        Congenital Abnormalities 5187
          Musculoskeletal Abnormalities 2135
            Craniofacial Abnormalities 1855
              Maxillofacial Abnormalities 233
                Jaw Abnormalities 221
                  agnathia-otocephaly complex 3
paths to the root