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ONTOLOGY REPORT - ANNOTATIONS


Term:Short phalanx of finger
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Accession:HP:0009803 term browser browse the term
Definition:Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Synonyms:exact_synonym: Hypoplastic phalanges;   Hypoplastic phalanges of hands;   Hypoplastic/small phalanges of the hand;   Phalangeal hypoplasia;   Rudimentary phalanges;   Short finger bones;   Short phalanges;   Shortened phalanges
 alt_id: HP:0001168;   HP:0005771;   HP:0006087;   HP:0006126
 xref: UMLS:C0877165


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Short phalanx of finger term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 JBrowse link 5 179,110,853 179,345,461 RGD:8699517
G BGN biglycan JBrowse link X 153,494,980 153,509,546 RGD:8699517
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 94,757,955 95,158,453 RGD:8699517
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,162,692 33,193,009 RGD:8699517
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,967 48,006,212 RGD:8699517
G COMP cartilage oligomeric matrix protein JBrowse link 19 18,782,773 18,791,305 RGD:8699517
G DDR2 discoidin domain receptor tyrosine kinase 2 JBrowse link 1 162,630,863 162,787,405 RGD:8699517
G DPYS dihydropyrimidinase JBrowse link 8 104,379,429 104,467,074 RGD:8699517
G DVL3 dishevelled segment polarity protein 3 JBrowse link 3 184,155,311 184,173,614 RGD:8699517
G DYM dymeclin JBrowse link 18 49,041,474 49,460,709 RGD:8699517
G EIF4A3 eukaryotic translation initiation factor 4A3 JBrowse link 17 80,134,369 80,147,128 RGD:8699517
G FBN1 fibrillin 1 JBrowse link 15 48,408,306 48,645,788 RGD:8699517
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 38,411,138 38,468,834 RGD:8699517
G GDF5 growth differentiation factor 5 JBrowse link 20 35,433,347 35,454,749 RGD:8699517
G GPX4 glutathione peroxidase 4 JBrowse link 19 1,103,994 1,106,779 RGD:8699517
G HHAT hedgehog acyltransferase JBrowse link 1 210,327,873 210,676,298 RGD:8699517
G HOXD13 homeobox D13 JBrowse link 2 176,087,487 176,095,944 RGD:8699517
G IFT140 intraflagellar transport 140 JBrowse link 16 1,510,427 1,612,072 RGD:8699517
G IL11RA interleukin 11 receptor subunit alpha JBrowse link 9 34,652,185 34,661,902 RGD:8699517
G KAT6B lysine acetyltransferase 6B JBrowse link 10 74,824,927 75,032,624 RGD:8699517
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 JBrowse link 17 70,169,532 70,180,044 RGD:8699517
G LBR lamin B receptor JBrowse link 1 225,401,502 225,428,855 RGD:8699517
G LIFR LIF receptor subunit alpha JBrowse link 5 38,474,668 38,606,290 RGD:8699517
G LONP1 lon peptidase 1, mitochondrial JBrowse link 19 5,691,834 5,720,452 RGD:8699517
G NHS NHS actin remodeling regulator JBrowse link X 17,375,200 17,735,994 RGD:8699517
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 35,782,086 35,809,731 RGD:8699517
G PDE3A phosphodiesterase 3A JBrowse link 12 20,369,245 20,688,579 RGD:8699517
G PDE4D phosphodiesterase 4D JBrowse link 5 58,969,038 60,524,329 RGD:8699517
G PIEZO2 piezo type mechanosensitive ion channel component 2 JBrowse link 18 10,670,237 11,149,585 RGD:8699517
G PORCN porcupine O-acyltransferase JBrowse link X 48,508,992 48,520,814 RGD:8699517
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 17 68,413,623 68,551,316 RGD:8699517
G PTH1R parathyroid hormone 1 receptor JBrowse link 3 46,877,689 46,903,799 RGD:8699517
G RAB33B RAB33B, member RAS oncogene family JBrowse link 4 139,453,232 139,476,609 RGD:8699517
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 1 220,148,293 220,272,453 RGD:8699517
G RBM8A RNA binding motif protein 8A JBrowse link 1 145,921,556 145,927,536 RGD:8699517
G RIPK4 receptor interacting serine/threonine kinase 4 JBrowse link 21 41,739,373 41,767,052 RGD:8699517
G SH3PXD2B SH3 and PX domains 2B JBrowse link 5 172,325,181 172,454,525 RGD:8699517
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 149,960,758 149,987,400 RGD:8699517
G SLC39A13 solute carrier family 39 member 13 JBrowse link 11 47,407,132 47,416,501 RGD:8699517
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 9 2,015,347 2,193,624 RGD:8699517
G TRIP11 thyroid hormone receptor interactor 11 JBrowse link 14 91,965,991 92,040,134 RGD:8699517
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 8 115,408,496 115,669,637 RGD:8699517
G XYLT1 xylosyltransferase 1 JBrowse link 16 17,101,769 17,470,960 RGD:8699517
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,258,078 40,294,180 RGD:8699517
Short distal phalanx of finger term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC9 ATP binding cassette subfamily C member 9 JBrowse link 12 21,797,389 21,941,863 RGD:8699517
G ARHGAP31 Rho GTPase activating protein 31 JBrowse link 3 119,294,289 119,420,714 RGD:8699517
G ARID1A AT-rich interaction domain 1A JBrowse link 1 26,696,015 26,782,104 RGD:8699517
G ARID1B AT-rich interaction domain 1B JBrowse link 6 156,776,026 157,210,779 RGD:8699517
G ARID2 AT-rich interaction domain 2 JBrowse link 12 45,729,706 45,908,037 RGD:8699517
G ARSL arylsulfatase L JBrowse link X 2,934,521 2,968,312 RGD:8699517
G BCR BCR activator of RhoGEF and GTPase JBrowse link 22 23,180,509 23,318,037 RGD:8699517
G CCDC22 coiled-coil domain containing 22 JBrowse link X 49,235,470 49,250,526 RGD:8699517
G CHST11 carbohydrate sulfotransferase 11 JBrowse link 12 104,456,948 104,762,014 RGD:8699517
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 10 71,964,395 72,013,562 RGD:8699517
G CLCN7 chloride voltage-gated channel 7 JBrowse link 16 1,444,933 1,475,084 RGD:8699517
G COG4 component of oligomeric golgi complex 4 JBrowse link 16 70,480,567 70,523,554 RGD:8699517
G COL10A1 collagen type X alpha 1 chain JBrowse link 6 116,118,909 116,219,937 RGD:8699517
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,967 48,006,212 RGD:8699517
G COMP cartilage oligomeric matrix protein JBrowse link 19 18,782,773 18,791,305 RGD:8699517
G CRIPT CXXC repeat containing interactor of PDZ3 domain JBrowse link 2 46,617,215 46,630,176 RGD:8699517
G CRKL CRK like proto-oncogene, adaptor protein JBrowse link 22 20,917,407 20,953,747 RGD:8699517
G CTSK cathepsin K JBrowse link 1 150,796,208 150,808,260 RGD:8699517
G CWC27 CWC27 spliceosome associated cyclophilin JBrowse link 5 64,768,918 65,018,763 RGD:8699517
G DLL4 delta like canonical Notch ligand 4 JBrowse link 15 40,929,340 40,939,073 RGD:8699517
G DOCK6 dedicator of cytokinesis 6 JBrowse link 19 11,199,295 11,262,524 RGD:8699517
G DPF2 double PHD fingers 2 JBrowse link 11 65,333,840 65,354,262 RGD:8699517
G DVL1 dishevelled segment polarity protein 1 JBrowse link 1 1,335,278 1,349,418 RGD:8699517
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 2 43,774,039 43,828,320 RGD:8699517
G EDA ectodysplasin A JBrowse link X 69,616,086 70,039,472 RGD:8699517
G EDA2R ectodysplasin A2 receptor JBrowse link X 66,594,384 66,639,303 RGD:8699517
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 3 68,975,220 69,013,961 RGD:8699517
G EVC EvC ciliary complex subunit 1 JBrowse link 4 5,711,199 5,829,043 RGD:8699517
G EVC2 EvC ciliary complex subunit 2 JBrowse link 4 5,562,408 5,709,548 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 GDF5 growth differentiation factor 5 JBrowse link 20 35,433,347 35,454,749 RGD:8699517
G GGCX gamma-glutamyl carboxylase JBrowse link 2 85,544,720 85,561,527 RGD:8699517
G GLI1 GLI family zinc finger 1 JBrowse link 12 57,459,785 57,472,451 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 HOXA13 homeobox A13 JBrowse link 7 27,194,364 27,200,091 RGD:8699517
G HOXD13 homeobox D13 JBrowse link 2 176,087,487 176,095,944 RGD:8699517
G IFT122 intraflagellar transport 122 JBrowse link 3 129,440,036 129,520,507 RGD:8699517
G IFT43 intraflagellar transport 43 JBrowse link 14 75,985,753 76,084,073 RGD:8699517
G IFT52 intraflagellar transport 52 JBrowse link 20 43,590,937 43,647,299 RGD:8699517
G IFT57 intraflagellar transport 57 JBrowse link 3 108,160,812 108,222,424 RGD:8699517
G IHH Indian hedgehog signaling molecule JBrowse link 2 219,054,424 219,060,921 RGD:8699517
G JAG1 jagged canonical Notch ligand 1 JBrowse link 20 10,637,684 10,673,999 RGD:8699517
G KCNH1 potassium voltage-gated channel subfamily H member 1 JBrowse link 1 210,678,314 211,134,148 RGD:8699517
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 JBrowse link 12 21,764,955 21,775,593 RGD:8699517
G KDM5C lysine demethylase 5C JBrowse link X 53,176,277 53,225,422 RGD:8699517
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8699517
G MAPK1 mitogen-activated protein kinase 1 JBrowse link 22 21,759,657 21,867,680 RGD:8699517
G MCTP2 multiple C2 and transmembrane domain containing 2 JBrowse link 15 94,231,538 94,483,952 RGD:8699517
G MGP matrix Gla protein JBrowse link 12 14,880,864 14,885,854 RGD:8699517
G MTOR mechanistic target of rapamycin kinase JBrowse link 1 11,106,535 11,273,497 RGD:8699517
G NFIX nuclear factor I X JBrowse link 19 12,995,475 13,098,796 RGD:8699517
G NOG noggin JBrowse link 17 56,593,699 56,595,611 RGD:8699517
G NOTCH1 notch receptor 1 JBrowse link 9 136,494,433 136,546,048 RGD:8699517
G NOTCH2 notch receptor 2 JBrowse link 1 119,911,553 120,069,703 RGD:8699517
G NXN nucleoredoxin JBrowse link 17 799,310 979,776 RGD:8699517
G PCNT pericentrin JBrowse link 21 46,324,122 46,445,769 RGD:8699517
G PIGN phosphatidylinositol glycan anchor biosynthesis class N JBrowse link 18 62,041,164 62,187,118 RGD:8699517
G PIGS phosphatidylinositol glycan anchor biosynthesis class S JBrowse link 17 28,553,387 28,571,524 RGD:8699517
G PIGV phosphatidylinositol glycan anchor biosynthesis class V JBrowse link 1 26,787,963 26,798,403 RGD:8699517
G POC1A POC1 centriolar protein A JBrowse link 3 52,075,226 52,154,423 RGD:8699517
G PTHLH parathyroid hormone like hormone JBrowse link 12 27,958,084 27,972,864 RGD:8699517
G RBPJ recombination signal binding protein for immunoglobulin kappa J region JBrowse link 4 26,163,489 26,435,131 RGD:8699517
G ROR2 receptor tyrosine kinase like orphan receptor 2 JBrowse link 9 91,722,598 91,950,228 RGD:8699517
G RPS6KA3 ribosomal protein S6 kinase A3 JBrowse link X 20,149,911 20,267,514 RGD:8699517
G SETBP1 SET binding protein 1 JBrowse link 18 44,680,072 45,068,510 RGD:8699517
G SLC25A24 solute carrier family 25 member 24 JBrowse link 1 108,134,043 108,200,343 RGD:8699517
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 19 10,960,997 11,062,468 RGD:8699517
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 22 23,786,966 23,838,009 RGD:8699517
G SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 JBrowse link 12 56,162,359 56,189,504 RGD:8699517
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 17 40,624,962 40,647,818 RGD:8699517
G SOX11 SRY-box transcription factor 11 JBrowse link 2 5,692,384 5,701,385 RGD:8699517
G TBC1D24 TBC1 domain family member 24 JBrowse link 16 2,475,104 2,509,669 RGD:8699517
G TBX3 T-box transcription factor 3 JBrowse link 12 114,670,255 114,684,175 RGD:8699517
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 8 115,408,496 115,669,637 RGD:8699517
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 109,783,087 109,833,398 RGD:8699517
G WDR19 WD repeat domain 19 JBrowse link 4 39,182,473 39,285,810 RGD:8699517
G WDR35 WD repeat domain 35 JBrowse link 2 19,910,260 19,990,105 RGD:8699517
G ZBTB20 zinc finger and BTB domain containing 20 JBrowse link 3 114,314,500 115,147,288 RGD:8699517
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,258,078 40,294,180 RGD:8699517
Short distal phalanx of the 2nd finger term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 94,757,955 95,158,453 RGD:8699517
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,967 48,006,212 RGD:8699517
Short distal phalanx of the 3rd finger term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,967 48,006,212 RGD:8699517
Short distal phalanx of the 4th finger term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,967 48,006,212 RGD:8699517
Short distal phalanx of the 5th finger term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARID1B AT-rich interaction domain 1B JBrowse link 6 156,776,026 157,210,779 RGD:8699517
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,967 48,006,212 RGD:8699517
G H19 H19 imprinted maternally expressed transcript JBrowse link 11 1,995,176 2,001,466 RGD:8699517
G IGF2 insulin like growth factor 2 JBrowse link 11 2,129,112 2,149,603 RGD:8699517
Short distal phalanx of the thumb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 94,757,955 95,158,453 RGD:8699517
G FLNA filamin A JBrowse link X 154,348,531 154,374,638 RGD:8699517
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 JBrowse link 6 90,513,579 90,587,072 RGD:8699517
G PTCH1 patched 1 JBrowse link 9 95,442,980 95,517,057 RGD:8699517
G SALL4 spalt like transcription factor 4 JBrowse link 20 51,782,331 51,802,521 RGD:8699517
G SUFU SUFU negative regulator of hedgehog signaling JBrowse link 10 102,502,801 102,633,458 RGD:8699517
Short middle phalanx of finger term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMP4 bone morphogenetic protein 4 JBrowse link 14 53,949,736 53,956,891 RGD:8699517
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 94,757,955 95,158,453 RGD:8699517
G COL10A1 collagen type X alpha 1 chain JBrowse link 6 116,118,909 116,219,937 RGD:8699517
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,793,293 1,808,872 RGD:8699517
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 6 109,691,221 109,825,431 RGD:8699517
G GDF5 growth differentiation factor 5 JBrowse link 20 35,433,347 35,454,749 RGD:8699517
G GMNN geminin DNA replication inhibitor JBrowse link 6 24,774,937 24,786,099 RGD:8699517
G IFT57 intraflagellar transport 57 JBrowse link 3 108,160,812 108,222,424 RGD:8699517
G IHH Indian hedgehog signaling molecule JBrowse link 2 219,054,424 219,060,921 RGD:8699517
G KDM6A lysine demethylase 6A JBrowse link X 44,873,175 45,112,612 RGD:8699517
G KMT2A lysine methyltransferase 2A JBrowse link 11 118,436,490 118,526,832 RGD:8699517
G KMT2D lysine methyltransferase 2D JBrowse link 12 49,018,975 49,060,884 RGD:8699517
G MIR17HG miR-17-92a-1 cluster host gene JBrowse link 13 91,347,820 91,354,575 RGD:8699517
G PCNT pericentrin JBrowse link 21 46,324,122 46,445,769 RGD:8699517
G RAP1A RAP1A, member of RAS oncogene family JBrowse link 1 111,542,009 111,716,695 RGD:8699517
G RAP1B RAP1B, member of RAS oncogene family JBrowse link 12 68,610,899 68,671,901 RGD:8699517
G ROR2 receptor tyrosine kinase like orphan receptor 2 JBrowse link 9 91,722,598 91,950,228 RGD:8699517
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 149,960,758 149,987,400 RGD:8699517
G TRPV4 transient receptor potential cation channel subfamily V member 4 JBrowse link 12 109,783,087 109,833,398 RGD:8699517
G VAC14 VAC14 component of PIKFYVE complex JBrowse link 16 70,687,439 70,801,158 RGD:8699517
Short middle phalanx of the 2nd finger term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF5 growth differentiation factor 5 JBrowse link 20 35,433,347 35,454,749 RGD:8699517
G HOXD13 homeobox D13 JBrowse link 2 176,087,487 176,095,944 RGD:8699517
G INTU inturned planar cell polarity protein JBrowse link 4 127,623,271 127,726,737 RGD:8699517
G RUNX2 RUNX family transcription factor 2 JBrowse link 6 45,328,317 45,551,082 RGD:8699517
Short middle phalanx of the 3rd finger term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF5 growth differentiation factor 5 JBrowse link 20 35,433,347 35,454,749 RGD:8699517
Short middle phalanx of the 4th finger term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF5 growth differentiation factor 5 JBrowse link 20 35,433,347 35,454,749 RGD:8699517
Short middle phalanx of the 5th finger term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMP2 bone morphogenetic protein 2 JBrowse link 20 6,767,686 6,780,246 RGD:8699517
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 94,757,955 95,158,453 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 GATA1 GATA binding protein 1 JBrowse link X 48,786,540 48,794,311 RGD:8699517
G GDF5 growth differentiation factor 5 JBrowse link 20 35,433,347 35,454,749 RGD:8699517
G GJA1 gap junction protein alpha 1 JBrowse link 6 121,435,646 121,449,727 RGD:8699517
G H19 H19 imprinted maternally expressed transcript JBrowse link 11 1,995,176 2,001,466 RGD:8699517
G HOXD13 homeobox D13 JBrowse link 2 176,087,487 176,095,944 RGD:8699517
G IGF2 insulin like growth factor 2 JBrowse link 11 2,129,112 2,149,603 RGD:8699517
G PUF60 poly(U) binding splicing factor 60 JBrowse link 8 143,816,344 143,830,041 RGD:8699517
G RBBP8 RB binding protein 8, endonuclease JBrowse link 18 22,914,121 23,026,486 RGD:8699517
G ROR2 receptor tyrosine kinase like orphan receptor 2 JBrowse link 9 91,722,598 91,950,228 RGD:8699517
G RUNX2 RUNX family transcription factor 2 JBrowse link 6 45,328,317 45,551,082 RGD:8699517
G TFAP2B transcription factor AP-2 beta JBrowse link 6 50,817,692 50,847,619 RGD:8699517
G WNT5A Wnt family member 5A JBrowse link 3 55,465,715 55,505,261 RGD:8699517
Short proximal phalanx of finger term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 94,757,955 95,158,453 RGD:8699517
G IHH Indian hedgehog signaling molecule JBrowse link 2 219,054,424 219,060,921 RGD:8699517
G MTOR mechanistic target of rapamycin kinase JBrowse link 1 11,106,535 11,273,497 RGD:8699517
Short proximal phalanx of thumb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMPR1B bone morphogenetic protein receptor type 1B JBrowse link 4 94,757,955 95,158,453 RGD:8699517
G IHH Indian hedgehog signaling molecule JBrowse link 2 219,054,424 219,060,921 RGD:8699517
Shortening of all distal phalanges of the fingers term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGTR2 angiotensin II receptor type 2 JBrowse link X 116,170,744 116,174,974 RGD:8699517
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 111,680,741 111,764,164 RGD:8699517
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 JBrowse link X 136,665,547 136,780,945 RGD:8699517
G ARX aristaless related homeobox JBrowse link X 25,003,694 25,015,965 RGD:8699517
G CLCN4 chloride voltage-gated channel 4 JBrowse link X 10,156,945 10,237,660 RGD:8699517
G CXorf56 chromosome X open reading frame 56 JBrowse link X 119,538,149 119,565,409 RGD:8699517
G DLG3 discs large MAGUK scaffold protein 3 JBrowse link X 70,444,835 70,505,490 RGD:8699517
G DMD dystrophin JBrowse link X 31,119,219 33,339,460 RGD:8699517
G FRMPD4 FERM and PDZ domain containing 4 JBrowse link X 11,822,439 12,724,523 RGD:8699517
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 JBrowse link X 48,476,021 48,486,364 RGD:8699517
G GDI1 GDP dissociation inhibitor 1 JBrowse link X 154,437,154 154,443,467 RGD:8699517
G HCFC1 host cell factor C1 JBrowse link X 153,947,556 153,972,360 RGD:8699517
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 JBrowse link X 28,587,446 29,956,718 RGD:8699517
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 JBrowse link X 53,225,784 53,321,356 RGD:8699517
G MECP2 methyl-CpG binding protein 2 JBrowse link X 154,021,573 154,097,731 RGD:8699517
G MED12 mediator complex subunit 12 JBrowse link X 71,118,596 71,142,450 RGD:8699517
G MID2 midline 2 JBrowse link X 107,820,453 107,931,637 RGD:8699517
G PAK3 p21 (RAC1) activated kinase 3 JBrowse link X 110,944,241 111,227,361 RGD:8699517
G PHF6 PHD finger protein 6 JBrowse link X 134,373,312 134,428,790 RGD:8699517
G PIGO phosphatidylinositol glycan anchor biosynthesis class O JBrowse link 9 35,085,496 35,096,601 RGD:8699517
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y JBrowse link 4 88,520,978 88,523,801 RGD:8699517
G PTCHD1 patched domain containing 1 JBrowse link X 23,334,369 23,404,374 RGD:8699517
G RAB39B RAB39B, member RAS oncogene family JBrowse link X 155,258,235 155,264,491 RGD:8699517
G RPS6KA3 ribosomal protein S6 kinase A3 JBrowse link X 20,149,911 20,267,514 RGD:8699517
G SLC9A7 solute carrier family 9 member A7 JBrowse link X 46,599,251 46,759,163 RGD:8699517
G SYP synaptophysin JBrowse link X 49,187,812 49,200,202 RGD:8699517
G TSPAN7 tetraspanin 7 JBrowse link X 38,561,478 38,688,918 RGD:8699517
G UPF3B UPF3B regulator of nonsense mediated mRNA decay JBrowse link X 119,805,311 119,853,028 RGD:8699517
G USP27X ubiquitin specific peptidase 27 X-linked JBrowse link X 49,879,484 49,882,558 RGD:8699517
G USP9X ubiquitin specific peptidase 9 X-linked JBrowse link X 41,085,420 41,236,579 RGD:8699517
G ZNF41 zinc finger protein 41 JBrowse link X 47,444,691 47,485,934 RGD:8699517
G ZNF711 zinc finger protein 711 JBrowse link X 85,243,820 85,273,362 RGD:8699517
G ZNF81 zinc finger protein 81 JBrowse link X 47,836,864 47,925,626 RGD:8699517
Shortening of all middle phalanges of the fingers term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,967 48,006,212 RGD:8699517
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 JBrowse link 2 88,556,740 88,627,464 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 GDF5 growth differentiation factor 5 JBrowse link 20 35,433,347 35,454,749 RGD:8699517
G HOXA13 homeobox A13 JBrowse link 7 27,194,364 27,200,091 RGD:8699517
G PHF6 PHD finger protein 6 JBrowse link X 134,373,312 134,428,790 RGD:8699517
Shortening of all phalanges of fingers term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOX9 SRY-box transcription factor 9 JBrowse link 17 72,121,020 72,126,416 RGD:8699517
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 8 115,408,496 115,669,637 RGD:8699517
Shortening of all proximal phalanges of the fingers term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,967 48,006,212 RGD:8699517
G GDF5 growth differentiation factor 5 JBrowse link 20 35,433,347 35,454,749 RGD:8699517

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 5901
    Phenotypic abnormality 5897
      Abnormality of limbs 1744
        Abnormality of the upper limb 1250
          Abnormality of the hand 1148
            Abnormality of finger 900
              Abnormal finger phalanx morphology 545
                Aplasia/Hypoplasia of the phalanges of the hand 204
                  Short phalanx of finger 180
                    Short distal phalanx of finger + 120
                    Short middle phalanx of finger + 40
                    Short pointed phalanges 0
                    Short proximal phalanx of finger + 5
                    Shortening of all phalanges of fingers 2
Path 2
Term Annotations click to browse term
  Human phenotype 5901
    Phenotypic abnormality 5897
      Abnormality of the skeletal system 2630
        Abnormality of skeletal morphology 2529
          Abnormal appendicular skeleton morphology 1354
            Abnormality of limb bone morphology 1251
              Abnormal digit morphology 1092
                Abnormality of finger 900
                  Abnormal finger phalanx morphology 545
                    Aplasia/Hypoplasia of the phalanges of the hand 204
                      Short phalanx of finger 180
                        Short distal phalanx of finger + 120
                        Short middle phalanx of finger + 40
                        Short pointed phalanges 0
                        Short proximal phalanx of finger + 5
                        Shortening of all phalanges of fingers 2
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.