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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Short distal phalanx of finger
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Accession:HP:0009882 term browser browse the term
Definition:Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Comment:This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIP joint and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint.
Synonyms:exact_synonym: Brachytelophalangy;   Distal phalangeal hypoplasia;   Hypoplasia of the distal phalanges;   Hypoplasia of the distal phalanges of the hand;   Hypoplastic distal phalanges;   Hypoplastic terminal phalanges;   Short distal phalanges;   Short outermost finger bone;   Terminal phalangeal hypoplasia of hand
 alt_id: HP:0001198;   HP:0001202;   HP:0001221;   HP:0001229;   HP:0005669;   HP:0006075;   HP:0006076;   HP:0006132;   HP:0006199;   HP:0006223
 xref: UMLS:C1839829


show annotations for term's descendants           Sort by:
Short distal phalanx of finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO ORPHA:1517 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ACTL6B actin like 6B IAGP HPO MIM:618470 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO ORPHA:974 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP HPO MIM:614607 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARSL arylsulfatase L IAGP HPO MIM:302950 ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G ASCC3 activating signal cointegrator 1 complex subunit 3 IAGP HPO MIM:620700 NCBI chr 6:100,508,194...100,881,329
Ensembl chr 6:100,508,194...100,881,372 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:79500 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:261330 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037 		JBrowse link
G CBFB core-binding factor subunit beta IAGP HPO MIM:620099 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO MIM:300963 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CHST11 carbohydrate sulfotransferase 11 IAGP HPO MIM:618167 NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO MIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:53 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO MIM:618150 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP HPO MIM:156500 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:271700 ORPHA:85166 ORPHA:93315 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COMP cartilage oligomeric matrix protein IAGP HPO MIM:177170 NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain IAGP HPO MIM:615789 NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,685,037 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP HPO ORPHA:261330 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747 		JBrowse link
G CWC27 CWC27 spliceosome associated cyclophilin IAGP HPO MIM:250410 NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:974 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO ORPHA:974 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:616331 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:181 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP HPO ORPHA:181 NCBI chr  X:66,595,637...66,639,269
Ensembl chr  X:66,595,637...66,639,298 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO ORPHA:974 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO MIM:620662 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO ORPHA:289 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO ORPHA:289 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FLNA filamin A IAGP HPO MIM:309350 MIM:311300 ORPHA:1826 ORPHA:2484 ORPHA:90650 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO ORPHA:503 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FN1 fibronectin 1 IAGP HPO ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 IAGP HPO MIM:309549 NCBI chr  X:48,476,021...48,486,364
Ensembl chr  X:48,476,021...48,486,364 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO MIM:615072 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP HPO MIM:277450 NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO MIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:312870 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:312870 ORPHA:2662 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO ORPHA:2438 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO MIM:186300 ORPHA:93387 ORPHA:93406 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO MIM:218330 ORPHA:1515 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO ORPHA:1515 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO MIM:617102 ORPHA:1515 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299 		JBrowse link
G IFT57 intraflagellar transport 57 IAGP HPO MIM:617927 NCBI chr 3:108,160,812...108,222,424
Ensembl chr 3:108,160,812...108,222,435 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO MIM:607778 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP HPO MIM:118450 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO MIM:135500 MIM:611816 ORPHA:420561 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP HPO ORPHA:1517 NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO MIM:618658 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO MIM:300534 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,277...53,225,422 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:248370 ORPHA:90153 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO ORPHA:261330 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP HPO ORPHA:1596 NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952 		JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 ORPHA:85202 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO MIM:616638 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NOG noggin IAGP HPO MIM:184460 MIM:611377 ORPHA:140908 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO ORPHA:974 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NXN nucleoredoxin IAGP HPO ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G PCNT pericentrin IAGP HPO MIM:210720 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO MIM:601812 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP HPO MIM:618580 NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648 		JBrowse link
G PIGF phosphatidylinositol glycan anchor biosynthesis class F IAGP HPO MIM:619356 NCBI chr 2:46,580,937...46,617,041
Ensembl chr 2:46,580,937...46,617,055 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO MIM:614080 ORPHA:2059 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP HPO MIM:618143 NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP DNA:missense mutations:CDS:multiple HPO
RGD		 PMID:20802478 MIM:239300, RGD:243048420 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G POC1A POC1 centriolar protein A IAGP HPO MIM:614813 NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO MIM:617157 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G PTHLH parathyroid hormone like hormone IAGP HPO ORPHA:93387 NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO MIM:614814 ORPHA:974 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO MIM:268310 ORPHA:1507 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO MIM:269150 ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO MIM:612289 ORPHA:2095 ORPHA:2963 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP HPO MIM:619293 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO MIM:616938 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP HPO MIM:615866 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385 		JBrowse link
G STAMBP STAM binding protein IAGP HPO MIM:614261 NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO MIM:220500 ORPHA:79500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO ORPHA:3138 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO ORPHA:77258 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO MIM:606835 ORPHA:85169 ORPHA:93314 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO MIM:617746 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO MIM:614378 ORPHA:1515 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO MIM:614091 ORPHA:1515 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO MIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:90154 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Short distal phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO MIM:616849 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:271700 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
Short distal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:271700 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:79445 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
Short distal phalanx of the 4th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:271700 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
Short distal phalanx of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B IAGP HPO MIM:135900 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:271700 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO MIM:620662 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO MIM:180860 NCBI chr11:1,998,202...2,003,509 JBrowse link
G HNRNPR heterogeneous nuclear ribonucleoprotein R IAGP HPO MIM:620073 NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:180860 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO MIM:614608 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
Short distal phalanx of the thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO MIM:616849 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:1826 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:79445 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO ORPHA:221139 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PTCH1 patched 1 IAGP HPO MIM:109400 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:959 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
Shortening of all distal phalanges of the fingers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG6 ALG6 alpha-1,3-glucosyltransferase IAGP HPO ORPHA:79320 NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO MIM:616202 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:146510 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP HPO MIM:614207 ORPHA:247262 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP HPO MIM:615716 ORPHA:247262 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		JBrowse link
G PHF6 PHD finger protein 6 IAGP HPO MIM:301900 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:247262 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP HPO MIM:614749 ORPHA:247262 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,085,493...35,096,619 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO ORPHA:247262 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP HPO ORPHA:247262 NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO MIM:616809 ORPHA:247262 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO MIM:619135 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of limbs 2641
        Abnormality of the upper limb 1854
          Abnormality of the hand 1678
            Abnormal finger morphology 1301
              Aplasia/Hypoplasia of fingers 372
                Short finger 326
                  Short distal phalanx of finger 119
                    Short distal phalanx of the 2nd finger 2
                    Short distal phalanx of the 3rd finger 2
                    Short distal phalanx of the 4th finger 1
                    Short distal phalanx of the 5th finger 7
                    Short distal phalanx of the thumb 8
                    Shortening of all distal phalanges of the fingers 14
Path 2
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the musculoskeletal system 5574
        Abnormality of the skeletal system 4650
          Abnormal skeletal morphology 4495
            Abnormal appendicular skeleton morphology 2015
              Abnormal limb bone morphology 1878
                Abnormal digit morphology 1645
                  Abnormal finger morphology 1301
                    Abnormal finger phalanx morphology 723
                      Abnormal distal phalanx morphology of finger 172
                        Aplasia/Hypoplasia of the distal phalanges of the hand 124
                          Short distal phalanx of finger 119
                            Short distal phalanx of the 2nd finger 2
                            Short distal phalanx of the 3rd finger 2
                            Short distal phalanx of the 4th finger 1
                            Short distal phalanx of the 5th finger 7
                            Short distal phalanx of the thumb 8
                            Shortening of all distal phalanges of the fingers 14
paths to the root