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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
 xref: ICD10CM:Q18.2;   ORDO:990


show annotations for term's descendants           Sort by:
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 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Prrx1 paired related homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Agnathia-otocephaly complex		 OMIM
CTD
ClinVar		 PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:202650 MouseDO NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      agnathia-otocephaly complex 3
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Musculoskeletal Abnormalities 3288
            Craniofacial Abnormalities 2640
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  agnathia-otocephaly complex 3
paths to the root