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ONTOLOGY REPORT - ANNOTATIONS


Term:orofacial cleft 1
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Accession:DOID:0080395 term browser browse the term
Definition:An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3. (DO)
Synonyms:exact_synonym: OFC;   OFC1;   nonsyndromic cleft lip with or without cleft palate 1;   nonsyndromic cleft lip/palate;   nonsyndromic orofacial cleft;   orofacial clefting
 primary_id: MESH:C566121
 alt_id: DOID:9000844;   OMIM:119530
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orofacial cleft 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
G Lrp6 LDL receptor related protein 6 JBrowse link 4 168,194,054 168,323,962 RGD:8554872
G Nectin2 nectin cell adhesion molecule 2 JBrowse link 1 80,631,449 80,666,617 RGD:11554173
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:8554872
G Pvr PVR cell adhesion molecule JBrowse link 1 80,820,306 80,835,712 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    physical disorder 759
      orofacial cleft 115
        orofacial cleft 1 5
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        Congenital Abnormalities 3732
          Musculoskeletal Abnormalities 1341
            Craniofacial Abnormalities 1064
              Maxillofacial Abnormalities 209
                Jaw Abnormalities 206
                  orofacial cleft 115
                    orofacial cleft 1 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.