Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:agenesis of corpus callosum, cardiac, ocular, and genital syndrome
go back to main search page
Accession:DOID:0080948 term browser browse the term
Definition:A syndrome that is characterized by characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. (DO)
Synonyms:exact_synonym: ACOGS
 primary_id: OMIM:618929
 alt_id: DOID:9003161
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
agenesis of corpus callosum, cardiac, ocular, and genital syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME ClinVar
OMIM
PMID:18798333 PMID:25741868 PMID:31585109 PMID:31650526 NCBI chr18:7,776,704...7,990,934 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    syndrome 8040
      agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1
Path 2
Term Annotations click to browse term
  disease 17160
    Developmental Disease 10925
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        Congenital Abnormalities 5583
          Nervous System Malformations 1651
            Agenesis of Corpus Callosum 194
              agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1
paths to the root