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ONTOLOGY REPORT - ANNOTATIONS


Term:craniofacial phenotype
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Accession:MP:0005382 term browser browse the term
Definition:the observable morphological and physiological characteristics of the face or head of a mammalian organism that are manifested through development and lifespan


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abnormal craniofacial bone morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nell1 neural EGFL like 1 JBrowse link 1 105,348,577 106,218,970 RGD:633405
abnormal craniofacial development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lpar1 lysophosphatidic acid receptor 1 JBrowse link 5 75,557,038 75,678,067 RGD:13825198
abnormal head shape term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:14995942
G Tmem67wpk transmembrane protein 67; wpk mutant RGD:14995942
abnormal incisor color term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfe2l2em1Kyo nuclear factor, erythroid 2-like 2; zinc finger nuclease induced mutant 1, Kyoto University RGD:12910550
G Nfe2l2em2Kyo nuclear factor, erythroid 2-like 2; zinc finger nuclease induced mutant 2, Kyoto University RGD:12910550
abnormal molar cusp morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:14398762
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant RGD:14398762
abnormal nasal mucosa morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cftr CF transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:11566051
abnormal nose morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:1601213
G Pax6Sey paired box gene 6, small eye mutation RGD:1601213
abnormal tongue morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edaradd EDAR-associated death domain JBrowse link 17 90,802,280 90,843,476 RGD:14398762
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant RGD:14398762
abnormal tooth color term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cftr CF transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:11566051
absent teeth term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf1 colony stimulating factor 1 JBrowse link 2 210,522,370 210,550,546 RGD:628338
G Csf1tl colony stimulating factor 1; tooth less mutant RGD:628338
flat head term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cit citron rho-interacting serine/threonine kinase JBrowse link 12 46,334,669 46,494,152 RGD:13204836
G CitfhJjlo citron rho-interacting serine/threonine kinase; flat head mutant, Jjlo RGD:13204836
supernumerary incisors term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:12790971

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Term Annotations click to browse term
  mammalian phenotype 4934
    craniofacial phenotype 24
      abnormal craniofacial morphology + 24
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.