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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 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          eye disease 2733
            corneal disease 201
              sclerocornea 29
                anterior segment dysgenesis 28
                  Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 1
paths to the root