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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:agenesis of corpus callosum, cardiac, ocular, and genital syndrome
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Accession:DOID:0080948 term browser browse the term
Definition:A syndrome that is 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: MIM:618929
 alt_id: DOID:9003161



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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 OMIM
ClinVar
PMID:18798333 PMID:25741868 PMID:28492532 PMID:31585109 PMID:31650526 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1
paths to the root