ONTOLOGY REPORT - ANNOTATIONS


Term:Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation
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Accession:DOID:9007386 term browser browse the term
Synonyms:exact_synonym: COB1;   COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
 primary_id: MESH:C565173
 alt_id: OMIM:120433;   RDO:0013896
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Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yap1 yes-associated protein 1 JBrowse link 8 6,133,014 6,204,240 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Neurodevelopmental Disorders 2768
        intellectual disability 1596
          Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        Congenital Abnormalities 3200
          Musculoskeletal Abnormalities 1197
            Craniofacial Abnormalities 953
              Maxillofacial Abnormalities 202
                Jaw Abnormalities 199
                  orofacial cleft 110
                    cleft lip 50
                      Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation 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.