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ONTOLOGY REPORT - ANNOTATIONS


Term:Broad thumb
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Accession:HP:0011304 term browser browse the term
Definition:Increased thumb width without increased dorso-ventral dimension.
Comment:Note that this term should not be used for thumbs that meet the definition for Macrodactyly.
Synonyms:exact_synonym: Broad phalanges of the thumb;   Broad thumbs;   Wide/broad thumb;   Wide/broad thumb phalanges
 alt_id: HP:0001173;   HP:0001240;   HP:0004073;   HP:0009651
 xref: SNOMEDCT_US:249773003;   UMLS:C0426891


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Broad thumb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAN aggrecan JBrowse link 15 88,803,436 88,875,354 RGD:8699517
G ADNP activity dependent neuroprotector homeobox JBrowse link 20 50,888,918 50,931,437 RGD:8699517
G BMP2 bone morphogenetic protein 2 JBrowse link 20 6,767,686 6,780,246 RGD:8699517
G BMPR1A bone morphogenetic protein receptor type 1A JBrowse link 10 86,755,786 86,927,969 RGD:8699517
G BPTF bromodomain PHD finger transcription factor JBrowse link 17 67,825,503 67,984,378 RGD:8699517
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,967 48,006,212 RGD:8699517
G CREBBP CREB binding protein JBrowse link 16 3,725,054 3,880,727 RGD:8699517
G DACT1 dishevelled binding antagonist of beta catenin 1 JBrowse link 14 58,634,061 58,648,321 RGD:8699517
G DVL1 dishevelled segment polarity protein 1 JBrowse link 1 1,335,278 1,349,418 RGD:8699517
G DVL3 dishevelled segment polarity protein 3 JBrowse link 3 184,155,311 184,173,614 RGD:8699517
G EED embryonic ectoderm development JBrowse link 11 86,244,384 86,285,420 RGD:8699517
G EP300 E1A binding protein p300 JBrowse link 22 41,092,592 41,180,077 RGD:8699517
G EXOSC2 exosome component 2 JBrowse link 9 130,693,760 130,704,894 RGD:8699517
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit JBrowse link 7 148,807,374 148,884,344 RGD:8699517
G FGF9 fibroblast growth factor 9 JBrowse link 13 21,671,073 21,704,501 RGD:8699517
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 38,411,138 38,468,834 RGD:8699517
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,478,330 121,598,458 RGD:8699517
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,793,293 1,808,872 RGD:8699517
G FLNA filamin A JBrowse link X 154,348,531 154,374,638 RGD:8699517
G FLNB filamin B JBrowse link 3 58,008,422 58,172,251 RGD:8699517
G G6PC3 glucose-6-phosphatase catalytic subunit 3 JBrowse link 17 44,070,700 44,076,344 RGD:8699517
G GATA4 GATA binding protein 4 JBrowse link 8 11,676,931 11,760,002 RGD:8699517
G GDF5 growth differentiation factor 5 JBrowse link 20 35,433,347 35,454,749 RGD:8699517
G GJA5 gap junction protein alpha 5 JBrowse link 1 147,756,199 147,781,127 RGD:8699517
G GJA8 gap junction protein alpha 8 JBrowse link 1 147,902,795 147,915,287 RGD:8699517
G GLI3 GLI family zinc finger 3 JBrowse link 7 41,960,949 42,237,209 RGD:8699517
G GPC3 glypican 3 JBrowse link X 133,535,745 133,985,616 RGD:8699517
G GPC4 glypican 4 JBrowse link X 133,300,103 133,415,489 RGD:8699517
G INPPL1 inositol polyphosphate phosphatase like 1 JBrowse link 11 72,223,861 72,239,147 RGD:8699517
G KCNH1 potassium voltage-gated channel subfamily H member 1 JBrowse link 1 210,678,314 211,134,148 RGD:8699517
G LIG4 DNA ligase 4 JBrowse link 13 108,207,442 108,218,349 RGD:8699517
G MED12 mediator complex subunit 12 JBrowse link X 71,118,596 71,142,450 RGD:8699517
G MEGF8 multiple EGF like domains 8 JBrowse link 19 42,325,635 42,378,765 RGD:8699517
G MEIS2 Meis homeobox 2 JBrowse link 15 36,889,204 37,101,311 RGD:8699517
G NOG noggin JBrowse link 17 56,593,699 56,595,611 RGD:8699517
G NSD1 nuclear receptor binding SET domain protein 1 JBrowse link 5 177,131,835 177,300,213 RGD:8699517
G NSUN2 NOP2/Sun RNA methyltransferase 2 JBrowse link 5 6,599,239 6,633,044 RGD:8699517
G NXN nucleoredoxin JBrowse link 17 799,310 979,776 RGD:8699517
G OTUD6B OTU deubiquitinase 6B JBrowse link 8 91,070,305 91,087,095 RGD:8699517
G PACS1 phosphofurin acidic cluster sorting protein 1 JBrowse link 11 66,070,272 66,244,744 RGD:8699517
G PRKD1 protein kinase D1 JBrowse link 14 29,576,479 29,927,847 RGD:8699517
G PSMD12 proteasome 26S subunit, non-ATPase 12 JBrowse link 17 67,337,916 67,366,598 RGD:8699517
G PTEN phosphatase and tensin homolog JBrowse link 10 87,863,625 87,971,930 RGD:8699517
G RAB23 RAB23, member RAS oncogene family JBrowse link 6 57,186,992 57,222,314 RGD:8699517
G RBM8A RNA binding motif protein 8A JBrowse link 1 145,921,556 145,927,484 RGD:8699517
G RLIM ring finger protein, LIM domain interacting JBrowse link X 74,582,976 74,614,624 RGD:8699517
G ROR2 receptor tyrosine kinase like orphan receptor 2 JBrowse link 9 91,722,598 91,950,228 RGD:8699517
G SALL1 spalt like transcription factor 1 JBrowse link 16 51,135,975 51,151,270 RGD:8699517
G SATB2 SATB homeobox 2 JBrowse link 2 199,269,500 199,471,266 RGD:8699517
G SMO smoothened, frizzled class receptor JBrowse link 7 129,188,633 129,213,548 RGD:8699517
G SMOC1 SPARC related modular calcium binding 1 JBrowse link 14 69,879,388 70,032,366 RGD:8699517
G SNIP1 Smad nuclear interacting protein 1 JBrowse link 1 37,534,449 37,554,293 RGD:8699517
G SRCAP Snf2 related CREBBP activator protein JBrowse link 16 30,699,171 30,741,409 RGD:8699517
G SUMF1 sulfatase modifying factor 1 JBrowse link 3 4,034,714 4,467,282 RGD:8699517
G SUZ12 SUZ12 polycomb repressive complex 2 subunit JBrowse link 17 31,937,007 32,001,040 RGD:8699517
G TBX5 T-box transcription factor 5 JBrowse link 12 114,353,911 114,408,708 RGD:8699517
G TWIST1 twist family bHLH transcription factor 1 JBrowse link 7 19,113,047 19,117,636 RGD:8699517
G USP9X ubiquitin specific peptidase 9 X-linked JBrowse link X 41,085,420 41,236,579 RGD:8699517
G WNT5A Wnt family member 5A JBrowse link 3 55,465,715 55,505,261 RGD:8699517
G XYLT1 xylosyltransferase 1 JBrowse link 16 17,101,769 17,470,960 RGD:8699517
Broad distal phalanx of the thumb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,478,330 121,598,458 RGD:8699517
G FLNA filamin A JBrowse link X 154,348,531 154,374,638 RGD:8699517
G GNAS GNAS complex locus JBrowse link 20 58,839,681 58,911,196 RGD:8699517
G HOXD13 homeobox D13 JBrowse link 2 176,087,487 176,095,944 RGD:8699517
Spatulate thumbs term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3GAT3 beta-1,3-glucuronyltransferase 3 JBrowse link 11 62,615,296 62,621,986 RGD:8699517
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 10 71,964,395 72,013,562 RGD:8699517
G FLNB filamin B JBrowse link 3 58,008,422 58,172,251 RGD:8699517

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 5964
    Phenotypic abnormality 5960
      Abnormality of limbs 1790
        Abnormality of the upper limb 1281
          Abnormal upper limb bone morphology 359
            Broad phalanges of the hand 78
              Broad thumb 64
                Broad distal phalanx of the thumb 4
                Broad proximal phalanx of the thumb 0
                Spatulate thumbs 3
Path 2
Term Annotations click to browse term
  Human phenotype 5964
    Phenotypic abnormality 5960
      Abnormality of the skeletal system 2680
        Abnormality of skeletal morphology 2581
          Abnormal appendicular skeleton morphology 1396
            Abnormality of limb bone morphology 1291
              Abnormal digit morphology 1129
                Abnormality of finger 928
                  Abnormal finger phalanx morphology 557
                    Triangular shaped phalanges of the hand 142
                      Abnormality of thumb phalanx 137
                        Broad thumb 64
                          Broad distal phalanx of the thumb 4
                          Broad proximal phalanx of the thumb 0
                          Spatulate thumbs 3
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.