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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:16199547 PMID:18798333 PMID:25741868 PMID:28492532 PMID:31585109 More... NCBI chr18:8,051,097...8,265,288
Ensembl chr18:7,776,704...7,990,167 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            eye disease 3731
              agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1
paths to the root