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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:Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
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Accession:DOID:9000682 term browser browse the term
Synonyms:exact_synonym: CAASDS
 primary_id: OMIM:614195;   RDO:9000256
For additional species annotation, visit the Alliance of Genome Resources.


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Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by OMIM:614195
ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome
OMIM
ClinVar
PMID:15051220, PMID:25741868 NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            corneal disease 185
              sclerocornea 30
                anterior segment dysgenesis 29
                  Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.