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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Musculoskeletal Abnormalities 1185
            Craniofacial Abnormalities 945
              Maxillofacial Abnormalities 199
                Jaw Abnormalities 196
                  orofacial cleft 108
                    cleft lip 50
                      Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation 1
paths to the root