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ONTOLOGY REPORT - ANNOTATIONS


Term:abnormal skeleton morphology
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Accession:MP:0005508 term browser browse the term
Definition:any structural anomaly of the bony framework of the body in vertebrates
Synonyms:exact_synonym: abnormal bone/ skeleton;   bone/ skeletal abnormalities
 alt_id: MP:0000055


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abnormal bone marrow cavity morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf1tl colony stimulating factor 1; tooth less mutant RGD:628338
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 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 long bone morphology 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
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 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
abnormal tracheal cartilage 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
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
chondrodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:704421
decreased bone mineral density term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lepr leptin receptor JBrowse link 5 120,503,475 120,682,281 RGD:12911216
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh RGD:12911216
decreased trabecular bone volume term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lepr leptin receptor JBrowse link 5 120,503,475 120,682,281 RGD:12911216
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh RGD:12911216
increased bone mineral density term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf1tl colony stimulating factor 1; tooth less mutant RGD:628338
increased bone trabecular spacing term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lepr leptin receptor JBrowse link 5 120,503,475 120,682,281 RGD:12911216
G Leprem4Lizh leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh RGD:12911216
increased osteosarcoma incidence term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 JBrowse link 1 12,823,363 12,825,806 RGD:5147850
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

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 4934
    skeleton phenotype 384
      abnormal skeleton morphology 299
        abnormal appendicular skeleton morphology + 11
        abnormal axial skeleton morphology + 20
        abnormal bone structure + 166
        abnormal cartilage morphology + 1
        abnormal clitoral bone morphology + 0
        abnormal enthesis morphology 0
        abnormal joint morphology + 104
        abnormal ligament morphology + 1
        abnormal perichondrium morphology + 0
        abnormal skeleton development + 3
        abnormal tendon morphology + 0
        decreased skeletal tumor incidence 0
        ectopic bone + 0
        hyperostosis + 0
        increased skeletal tumor incidence + 1
        synostosis 0
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.