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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Mab21l1 mab-21 like 1 JBrowse link 2 145,174,876 145,177,265 RGD:7240710
RGD:8554872
G Nbea neurobeachin JBrowse link 2 145,011,648 145,513,439 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      reproductive system disease 2436
        CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          eye and adnexa disease 2257
            eye disease 2257
              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.