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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:Cerebellar, Ocular, Craniofacial, and Genital Syndrome
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Accession:DOID:9008126 term browser browse the term
Definition:A disease characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment.
Synonyms:exact_synonym: COFG
 primary_id: OMIM:618479
For additional species annotation, visit the Alliance of Genome Resources.


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Cerebellar, Ocular, Craniofacial, and Genital Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mab21l1 mab-21 like 1 ISO ClinVar Annotator: match by term: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME OMIM
ClinVar
PMID:23374822, PMID:27075597, PMID:27103078, PMID:30487245 NCBI chr 2:145,174,876...145,177,265
Ensembl chr 2:145,174,876...145,177,265
JBrowse link
G Nbea neurobeachin ISO ClinVar Annotator: match by term: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME ClinVar PMID:23374822, PMID:27075597, PMID:27103078, PMID:30487245 NCBI chr 2:145,011,648...145,513,439 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      reproductive system disease 2563
        Cerebellar, Ocular, Craniofacial, and Genital Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            cerebellar disease 447
              Cerebellar, Ocular, Craniofacial, and Genital Syndrome 2
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.