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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: MIM:618479


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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 2:139,943,496...139,945,885
Ensembl chr 2:139,943,496...139,945,885 		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 2:139,780,021...140,338,639
Ensembl chr 2:139,780,021...140,340,584 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      reproductive system disease 3178
        Cerebellar, Ocular, Craniofacial, and Genital Syndrome 2
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          sensory system disease 7331
            eye disease 3696
              Cerebellar, Ocular, Craniofacial, and Genital Syndrome 2
paths to the root