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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;   PRRX1-RELATED CONDITION;   agnathia-holoprosencephaly;   agnathia-holoprosencephaly-situs inversus syndrome;   dysgnathia complex;   dysgnathia complex, agnathia-holoprosencephaly;   otocephaly
 primary_id: MESH:C537996;   MESH:C562503
 alt_id: MIM:202650
 xref: ICD10CM:Q18.2;   ORDO:990


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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 7:110,268,608...110,272,105
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex | ClinVar Annotator: match by term: PRRX1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr13:78,136,783...78,205,379
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 19139
    physical disorder 5206
      agnathia-otocephaly complex 3
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Congenital Abnormalities 7894
          Musculoskeletal Abnormalities 3458
            Craniofacial Abnormalities 2781
              Maxillofacial Abnormalities 316
                Jaw Abnormalities 270
                  agnathia-otocephaly complex 3
paths to the root