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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 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



show annotations for term's descendants           Sort by:
 
Short phalanx of finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP OMIM:225410 HPO NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP ORPHA:221008 HPO NCBI chr 2:111,766,150...111,884,196
Ensembl chr 2:111,611,639...111,884,690
JBrowse link
G BGN biglycan IAGP OMIM:300106 HPO NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:609441 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ORPHA:1427 HPO NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:132450 HPO 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 ORPHA:750 HPO NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP OMIM:271665 HPO NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP OMIM:618724 HPO NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G DPYS dihydropyrimidinase IAGP OMIM:222748 HPO NCBI chr 8:104,379,429...104,467,074
Ensembl chr 8:104,330,324...104,467,055
JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP OMIM:616894 HPO NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
JBrowse link
G DYM dymeclin IAGP OMIM:607326 HPO NCBI chr18:49,036,387...49,460,709
Ensembl chr18:49,036,387...49,461,347
JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP OMIM:268305 HPO NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP ORPHA:508533 HPO NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,755,599
JBrowse link
G FBN1 fibrillin 1 IAGP OMIM:102370 HPO NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP OMIM:166250 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:200700 OMIM:228900 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GPX4 glutathione peroxidase 4 IAGP OMIM:250220 HPO NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,926...1,106,791
JBrowse link
G HDAC4 histone deacetylase 4 IAGP OMIM:600430 HPO NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HHAT hedgehog acyltransferase IAGP ORPHA:1422 HPO NCBI chr 1:210,327,873...210,676,298
Ensembl chr 1:210,328,252...210,676,296
JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:610713 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IFT140 intraflagellar transport 140 IAGP OMIM:266920 HPO NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP OMIM:614188 HPO NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,650,702...34,661,902
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP OMIM:606170 HPO NCBI chr10:74,824,927...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP OMIM:170390 HPO NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G LBR lamin B receptor IAGP OMIM:215140 HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LIFR LIF receptor subunit alpha IAGP OMIM:601559 HPO NCBI chr 5:38,474,668...38,606,290
Ensembl chr 5:38,474,668...38,608,354
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP OMIM:600373 HPO NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP OMIM:619269 HPO NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007
JBrowse link
G NHS NHS actin remodeling regulator IAGP OMIM:302350 HPO NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994
JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP OMIM:602875 HPO NCBI chr 9:35,782,086...35,809,731
Ensembl chr 9:35,791,591...35,809,732
JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP ORPHA:85167 HPO NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
JBrowse link
G PDE3A phosphodiesterase 3A IAGP OMIM:112410 ORPHA:1276 HPO NCBI chr12:20,368,537...20,688,583
Ensembl chr12:20,368,537...20,688,583
JBrowse link
G PDE4D phosphodiesterase 4D IAGP OMIM:614613 ORPHA:280651 HPO NCBI chr 5:58,969,038...60,524,329
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP OMIM:114300 HPO NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G PORCN porcupine O-acyltransferase IAGP OMIM:305600 HPO NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP OMIM:101800 ORPHA:280651 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP ORPHA:79106 HPO NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G RAB33B RAB33B, member RAS oncogene family IAGP OMIM:615222 HPO NCBI chr 4:139,453,232...139,476,609
Ensembl chr 4:139,453,232...139,476,609
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP OMIM:212720 HPO NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,453
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP OMIM:274000 HPO NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,917,714...145,927,678
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ORPHA:221016 HPO NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP OMIM:263650 HPO NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
G SH3PXD2B SH3 and PX domains 2B IAGP OMIM:249420 HPO NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP ORPHA:56304 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP OMIM:612350 HPO NCBI chr11:47,407,132...47,416,500
Ensembl chr11:47,407,132...47,416,496
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP OMIM:601358 HPO NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP OMIM:184260 HPO NCBI chr14:91,965,991...92,040,134
Ensembl chr14:91,965,991...92,040,896
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP OMIM:190351 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G XYLT1 xylosyltransferase 1 IAGP OMIM:615777 HPO NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP OMIM:608612 HPO NCBI chr 1:40,258,078...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
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 ORPHA:1517 HPO NCBI chr12:21,797,389...21,941,863
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP ORPHA:1855 HPO NCBI chr19:11,574,660...11,578,983
Ensembl chr19:11,574,660...11,579,008
JBrowse link
G ACTL6B actin like 6B IAGP OMIM:618470 HPO 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 ORPHA:974 HPO NCBI chr 3:119,294,289...119,420,714
Ensembl chr 3:119,294,383...119,420,714
JBrowse link
G ARSL arylsulfatase L IAGP OMIM:302950 HPO NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP ORPHA:79500 HPO NCBI chr 8:20,197,375...20,226,852
Ensembl chr 8:20,197,381...20,226,819
JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP ORPHA:261330 HPO NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP OMIM:300963 HPO NCBI chr  X:49,235,470...49,250,526
Ensembl chr  X:49,235,470...49,250,520
JBrowse link
G CHST11 carbohydrate sulfotransferase 11 IAGP OMIM:618167 HPO NCBI chr12:104,456,948...104,762,014
Ensembl chr12:104,455,295...104,762,014
JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP OMIM:143095 HPO NCBI chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP ORPHA:53 HPO NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,084
JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP OMIM:618150 HPO 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 OMIM:156500 HPO NCBI chr 6:116,118,909...116,219,937
Ensembl chr 6:116,118,909...116,158,747
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 ORPHA:85166 ORPHA:93315 HPO 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 OMIM:177170 HPO 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 OMIM:615789 HPO NCBI chr 2:46,617,215...46,630,176
Ensembl chr 2:46,616,416...46,630,176
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP ORPHA:261330 HPO NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
JBrowse link
G CTSK cathepsin K IAGP ORPHA:763 HPO NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
JBrowse link
G CWC27 CWC27 spliceosome associated cyclophilin IAGP OMIM:250410 HPO NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,768,930...65,018,750
JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP ORPHA:974 HPO 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 ORPHA:974 HPO 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 OMIM:616331 HPO 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 ORPHA:289 HPO 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 ORPHA:181 HPO NCBI chr  X:69,616,086...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP ORPHA:181 HPO NCBI chr  X:66,594,384...66,639,303
Ensembl chr  X:66,595,637...66,639,298
JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP ORPHA:974 HPO NCBI chr 3:68,975,220...69,013,961
Ensembl chr 3:68,975,217...69,013,684
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP ORPHA:289 HPO NCBI chr 4:5,711,199...5,829,043
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP ORPHA:289 HPO NCBI chr 4:5,562,408...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G FLNA filamin A IAGP OMIM:309350 OMIM:311300 ORPHA:2484 ORPHA:90650 HPO 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 ORPHA:503 HPO 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 ORPHA:93315 HPO NCBI chr 2:215,360,862...215,436,167
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 IAGP OMIM:309549 HPO 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 OMIM:615072 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP OMIM:277450 HPO NCBI chr 2:85,544,720...85,561,527
Ensembl chr 2:85,544,720...85,561,547
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP ORPHA:289 HPO NCBI chr12:57,459,785...57,472,451
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GPC3 glypican 3 IAGP OMIM:312870 HPO NCBI chr  X:133,535,745...133,985,616
Ensembl chr  X:133,535,745...133,985,594
JBrowse link
G GPC4 glypican 4 IAGP OMIM:312870 ORPHA:2662 HPO 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 ORPHA:2438 HPO 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 OMIM:186300 ORPHA:93387 ORPHA:93406 HPO 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 OMIM:218330 ORPHA:1515 HPO NCBI chr 3:129,440,075...129,520,507
Ensembl chr 3:129,440,036...129,520,507
JBrowse link
G IFT43 intraflagellar transport 43 IAGP ORPHA:1515 HPO NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
G IFT52 intraflagellar transport 52 IAGP OMIM:617102 ORPHA:1515 HPO NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
G IFT57 intraflagellar transport 57 IAGP OMIM:617927 HPO 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 OMIM:112500 OMIM:607778 HPO 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 OMIM:118450 HPO 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 OMIM:135500 OMIM:611816 ORPHA:420561 HPO 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 ORPHA:1517 HPO NCBI chr12:21,764,955...21,775,593
Ensembl chr12:21,764,955...21,775,600
JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP OMIM:618658 HPO 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 OMIM:300534 HPO NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,191,321...53,225,422
JBrowse link
G LMNA lamin A/C IAGP ORPHA:90153 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP ORPHA:261330 HPO 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 ORPHA:1596 HPO NCBI chr15:94,231,561...94,483,952
Ensembl chr15:94,231,538...94,483,952
JBrowse link
G MGP matrix Gla protein IAGP OMIM:245150 ORPHA:85202 HPO 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 OMIM:616638 HPO NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G NFIX nuclear factor I X IAGP OMIM:602535 HPO NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G NOG noggin IAGP OMIM:184460 OMIM:611377 ORPHA:140908 HPO NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NOTCH1 notch receptor 1 IAGP ORPHA:974 HPO 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 ORPHA:955 HPO NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G NXN nucleoredoxin IAGP ORPHA:1507 HPO NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
JBrowse link
G PCNT pericentrin IAGP OMIM:210720 HPO NCBI chr21:46,324,122...46,445,769
Ensembl chr21:46,324,141...46,445,769
JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP OMIM:618580 HPO NCBI chr15:55,318,939...55,355,648
Ensembl chr15:55,318,960...55,355,648
JBrowse link
G PIGF phosphatidylinositol glycan anchor biosynthesis class F IAGP OMIM:619356 HPO NCBI chr 2:46,580,937...46,617,057
Ensembl chr 2:46,580,937...46,617,055
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP OMIM:614080 ORPHA:2059 HPO NCBI chr18:62,041,164...62,187,118
Ensembl chr18:61,905,255...62,187,118
JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP OMIM:618143 HPO 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 OMIM:239300 HPO 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 OMIM:614813 HPO NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690
JBrowse link
G PTHLH parathyroid hormone like hormone IAGP ORPHA:93387 HPO NCBI chr12:27,958,084...27,972,864
Ensembl chr12:27,958,084...27,972,733
JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP OMIM:614814 ORPHA:974 HPO NCBI chr 4:26,163,458...26,435,131
Ensembl chr 4:26,163,455...26,435,131
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP ORPHA:1507 HPO NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ORPHA:192 HPO NCBI chr  X:20,149,911...20,267,514
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SETBP1 SET binding protein 1 IAGP OMIM:269150 ORPHA:798 HPO NCBI chr18:44,680,072...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP OMIM:612289 ORPHA:2095 ORPHA:2963 HPO 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, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP OMIM:619293 HPO NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP OMIM:616938 HPO 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 OMIM:615866 HPO 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 OMIM:614261 HPO NCBI chr 2:73,828,911...73,873,656
Ensembl chr 2:73,828,916...73,873,659
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP OMIM:220500 ORPHA:79500 HPO NCBI chr16:2,475,104...2,509,669
Ensembl chr16:2,475,051...2,509,560
JBrowse link
G TBX3 T-box transcription factor 3 IAGP ORPHA:3138 HPO 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 ORPHA:77258 HPO 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 OMIM:606835 ORPHA:85169 ORPHA:93314 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G WDR19 WD repeat domain 19 IAGP OMIM:614378 ORPHA:1515 HPO NCBI chr 4:39,182,473...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR35 WD repeat domain 35 IAGP OMIM:614091 ORPHA:1515 HPO NCBI chr 2:19,910,260...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP OMIM:259050 HPO NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,288
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP ORPHA:90154 HPO NCBI chr 1:40,258,078...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 OMIM:616849 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 HPO 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 OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G GNAS GNAS complex locus IAGP ORPHA:79445 HPO NCBI chr20:58,839,681...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 OMIM:271700 HPO 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 OMIM:135900 HPO 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 OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP OMIM:180860 HPO NCBI chr11:1,998,745...2,003,509 JBrowse link
G IGF2 insulin like growth factor 2 IAGP OMIM:180860 HPO NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
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 OMIM:616849 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G FLNA filamin A IAGP ORPHA:1826 HPO 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 ORPHA:79445 HPO NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP ORPHA:221139 HPO NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,246
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ORPHA:1826 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,072
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP ORPHA:221139 HPO NCBI chr 1:9,629,889...9,729,114
Ensembl chr 1:9,651,731...9,729,114
JBrowse link
G PTCH1 patched 1 IAGP OMIM:109400 HPO NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP OMIM:109400 HPO NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP ORPHA:959 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP OMIM:109400 HPO NCBI chr10:102,502,801...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
Short middle phalanx of finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 IAGP OMIM:607932 HPO NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP ORPHA:93384 ORPHA:93388 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G COL10A1 collagen type X alpha 1 chain IAGP OMIM:156500 HPO NCBI chr 6:116,118,909...116,219,937
Ensembl chr 6:116,118,909...116,158,747
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:15 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP ORPHA:3472 HPO NCBI chr 6:109,691,296...109,825,431
Ensembl chr 6:109,690,609...109,878,098
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:113100 ORPHA:93384 ORPHA:93388 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GMNN geminin DNA replication inhibitor IAGP OMIM:616835 HPO NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
JBrowse link
G IFT57 intraflagellar transport 57 IAGP OMIM:617927 HPO 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 ORPHA:93388 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G KDM6A lysine demethylase 6A IAGP ORPHA:2322 HPO NCBI chr  X:44,873,182...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2A lysine methyltransferase 2A IAGP OMIM:605130 HPO NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,490...118,526,832
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ORPHA:2322 HPO NCBI chr12:49,018,975...49,060,884
Ensembl chr12:49,018,978...49,060,794
JBrowse link
G MIR17HG miR-17-92a-1 cluster host gene IAGP ORPHA:391646 HPO NCBI chr13:91,347,820...91,354,575
Ensembl chr13:91,347,820...91,354,579
JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP OMIM:618853 HPO NCBI chr 3:113,002,444...113,019,721
Ensembl chr 3:113,002,444...113,019,861
JBrowse link
G PCNT pericentrin IAGP OMIM:210720 HPO NCBI chr21:46,324,122...46,445,769
Ensembl chr21:46,324,141...46,445,769
JBrowse link
G PDE4D phosphodiesterase 4D IAGP ORPHA:439822 HPO NCBI chr 5:58,969,038...60,524,329
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP OMIM:600002 HPO NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP OMIM:113000 HPO NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP OMIM:256050 HPO NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP OMIM:606835 ORPHA:85169 ORPHA:93314 HPO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP ORPHA:3472 HPO NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
JBrowse link
Short middle phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:615072 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G HOXD13 homeobox D13 IAGP ORPHA:93409 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G INTU inturned planar cell polarity protein IAGP OMIM:617926 HPO NCBI chr 4:127,623,271...127,726,737
Ensembl chr 4:127,623,271...127,726,737
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ORPHA:391641 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP OMIM:119600 OMIM:156510 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
Short middle phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:615072 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Short middle phalanx of the 4th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:615072 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP OMIM:616738 HPO NCBI chr 3:169,083,506...169,663,781
Ensembl chr 3:169,083,499...169,663,775
JBrowse link
Short middle phalanx of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP2 bone morphogenetic protein 2 IAGP OMIM:112600 ORPHA:93396 HPO NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B IAGP OMIM:112600 OMIM:616849 ORPHA:93396 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP OMIM:180700 HPO NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G GATA1 GATA binding protein 1 IAGP OMIM:190685 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,562...48,794,311
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:112600 OMIM:615072 ORPHA:63442 ORPHA:93396 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP OMIM:164200 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GNB2 G protein subunit beta 2 IAGP OMIM:619503 HPO NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP OMIM:180860 HPO NCBI chr11:1,998,745...2,003,509 JBrowse link
G HOXD13 homeobox D13 IAGP OMIM:186000 ORPHA:93409 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G IGF2 insulin like growth factor 2 IAGP OMIM:180860 HPO NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ORPHA:391641 HPO NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G NIN ninein IAGP ORPHA:319675 HPO NCBI chr14:50,719,763...50,831,162
Ensembl chr14:50,719,763...50,831,162
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ORPHA:508488 HPO NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,829,352
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP OMIM:251255 HPO NCBI chr18:22,914,121...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP OMIM:268310 HPO NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP OMIM:119600 OMIM:156510 HPO NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP ORPHA:46627 HPO NCBI chr 6:50,817,692...50,847,619
Ensembl chr 6:50,818,723...50,847,619
JBrowse link
G WNT5A Wnt family member 5A IAGP OMIM:180700 HPO NCBI chr 3:55,465,715...55,505,261
Ensembl chr 3:55,465,715...55,490,539
JBrowse link
Short proximal phalanx of 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 OMIM:616849 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ORPHA:15 HPO NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP OMIM:616638 HPO NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
Short proximal phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF15 kinesin family member 15 IAGP ORPHA:261323 HPO NCBI chr 3:44,761,740...44,853,274
Ensembl chr 3:44,761,721...44,873,376
JBrowse link
Short proximal phalanx of the 5th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF15 kinesin family member 15 IAGP ORPHA:261323 HPO NCBI chr 3:44,761,740...44,853,274
Ensembl chr 3:44,761,721...44,873,376
JBrowse link
Short proximal phalanx of 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 OMIM:616849 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G IHH Indian hedgehog signaling molecule IAGP OMIM:112500 OMIM:607778 HPO NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
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 ACSL4 acyl-CoA synthetase long chain family member 4 IAGP ORPHA:777 HPO NCBI chr  X:109,641,335...109,733,325
Ensembl chr  X:109,624,244...109,733,403
JBrowse link
G AGTR2 angiotensin II receptor type 2 IAGP ORPHA:777 HPO NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974
JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP ORPHA:777 HPO NCBI chr  X:111,680,741...111,764,164
Ensembl chr  X:111,665,811...111,760,649
JBrowse link
G ALG6 ALG6 alpha-1,3-glucosyltransferase IAGP ORPHA:79320 HPO NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553
JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 IAGP ORPHA:777 HPO NCBI chr  X:136,665,547...136,780,945
Ensembl chr  X:136,665,547...136,780,932
JBrowse link
G ARX aristaless related homeobox IAGP ORPHA:777 HPO NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420
JBrowse link
G CLCN4 chloride voltage-gated channel 4 IAGP ORPHA:777 HPO NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,975...10,237,660
JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP ORPHA:777 HPO NCBI chr  X:21,374,418...21,654,689
Ensembl chr  X:21,372,801...21,654,695
JBrowse link
G DLG3 discs large MAGUK scaffold protein 3 IAGP ORPHA:777 HPO NCBI chr  X:70,444,835...70,505,490
Ensembl chr  X:70,444,835...70,505,490
JBrowse link
G DMD dystrophin IAGP ORPHA:777 HPO NCBI chr  X:31,119,219...33,339,460
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G FRMPD4 FERM and PDZ domain containing 4 IAGP ORPHA:777 HPO NCBI chr  X:11,822,439...12,724,523
Ensembl chr  X:11,822,423...12,724,523
JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 IAGP ORPHA:777 HPO NCBI chr  X:48,476,021...48,486,364
Ensembl chr  X:48,476,021...48,486,364
JBrowse link
G GDI1 GDP dissociation inhibitor 1 IAGP ORPHA:777 HPO NCBI chr  X:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467
JBrowse link
G HCFC1 host cell factor C1 IAGP ORPHA:777 HPO NCBI chr  X:153,947,556...153,972,360
Ensembl chr  X:153,947,557...153,971,818
JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 IAGP ORPHA:777 HPO NCBI chr  X:28,587,446...29,956,718
Ensembl chr  X:28,587,446...29,956,718
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP ORPHA:777 HPO NCBI chr  X:53,225,784...53,321,356
Ensembl chr  X:53,225,828...53,321,350
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ORPHA:777 HPO NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G MED12 mediator complex subunit 12 IAGP ORPHA:777 HPO NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,556...71,142,454
JBrowse link
G MID2 midline 2 IAGP ORPHA:777 HPO NCBI chr  X:107,825,735...107,931,637
Ensembl chr  X:107,825,755...107,931,637
JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 IAGP ORPHA:777 HPO NCBI chr  X:110,944,324...111,227,361
Ensembl chr  X:110,944,285...111,227,361
JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP ORPHA:247262 HPO 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 ORPHA:247262 HPO 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 OMIM:301900 HPO NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,312...134,428,791
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP ORPHA:247262 HPO NCBI chr17:16,217,209...16,351,800
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP OMIM:614749 ORPHA:247262 HPO NCBI chr 9:35,085,496...35,096,591
Ensembl chr 9:35,088,688...35,096,601
JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP ORPHA:247262 HPO 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 ORPHA:247262 HPO 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 OMIM:616809 ORPHA:247262 HPO 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 ORPHA:95699 HPO NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G PTCHD1 patched domain containing 1 IAGP ORPHA:777 HPO NCBI chr  X:23,334,369...23,404,374
Ensembl chr  X:23,334,849...23,404,374
JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP ORPHA:777 HPO NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ORPHA:777 HPO NCBI chr  X:20,149,911...20,267,514
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SLC9A7 solute carrier family 9 member A7 IAGP ORPHA:777 HPO NCBI chr  X:46,599,251...46,759,163
Ensembl chr  X:46,599,251...46,759,118
JBrowse link
G STEEP1 STING1 ER exit protein 1 IAGP ORPHA:777 HPO NCBI chr  X:119,538,149...119,565,409
Ensembl chr  X:119,538,149...119,565,409
JBrowse link
G SYP synaptophysin IAGP ORPHA:777 HPO NCBI chr  X:49,187,815...49,200,193
Ensembl chr  X:49,187,815...49,200,199
JBrowse link
G TSPAN7 tetraspanin 7 IAGP ORPHA:777 HPO NCBI chr  X:38,561,542...38,688,918
Ensembl chr  X:38,561,542...38,688,920
JBrowse link
G UPF3B UPF3B regulator of nonsense mediated mRNA decay IAGP ORPHA:777 HPO NCBI chr  X:119,805,311...119,853,028
Ensembl chr  X:119,805,311...119,852,998
JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked IAGP ORPHA:777 HPO NCBI chr  X:49,879,484...49,882,558
Ensembl chr  X:49,879,484...49,882,558
JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP ORPHA:777 HPO NCBI chr  X:41,085,420...41,236,579
Ensembl chr  X:41,085,445...41,236,579
JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP OMIM:619135 HPO NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
JBrowse link
G ZNF41 zinc finger protein 41 IAGP ORPHA:777 HPO NCBI chr  X:47,444,691...47,485,934
Ensembl chr  X:47,445,178...47,483,222
JBrowse link
G ZNF711 zinc finger protein 711 IAGP ORPHA:777 HPO NCBI chr  X:85,243,820...85,273,362
Ensembl chr  X:85,243,991...85,273,362
JBrowse link
G ZNF81 zinc finger protein 81 IAGP ORPHA:777 HPO NCBI chr  X:47,836,902...47,925,627
Ensembl chr  X:47,836,902...48,002,561
JBrowse link
Shortening of all middle phalanges of the fingers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP OMIM:226980 HPO NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP OMIM:101600 HPO NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP OMIM:101600 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:201250 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G HOXA13 homeobox A13 IAGP OMIM:140000 ORPHA:2438 HPO NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
JBrowse link
G PHF6 PHD finger protein 6 IAGP OMIM:301900 HPO NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,312...134,428,791
JBrowse link
Shortening of all phalanges of fingers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPYD dihydropyrimidine dehydrogenase IAGP ClinVar Annotator: match by term: Shortening of all finger bones ClinVar PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 More... NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Shortening of all finger bones ClinVar PMID:25741868 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP OMIM:114290 HPO NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP ORPHA:77258 HPO NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
Shortening of all proximal phalanges of the fingers term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G GDF5 growth differentiation factor 5 IAGP OMIM:201250 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 13461
    Phenotypic abnormality 13458
      Abnormality of limbs 2265
        Abnormality of the upper limb 1623
          Abnormality of the hand 1502
            Abnormality of finger 1139
              Abnormal finger phalanx morphology 709
                Aplasia/Hypoplasia of the phalanges of the hand 239
                  Short phalanx of finger 208
                    Short distal phalanx of finger + 136
                    Short middle phalanx of finger + 44
                    Short pointed phalanges 0
                    Short proximal phalanx of finger + 7
                    Shortening of all phalanges of fingers 4
Path 2
Term Annotations click to browse term
  Human phenotype 13461
    Phenotypic abnormality 13458
      Abnormality of the musculoskeletal system 3905
        Abnormality of the skeletal system 3210
          Abnormality of skeletal morphology 3095
            Abnormal appendicular skeleton morphology 1768
              Abnormality of limb bone morphology 1656
                Abnormal digit morphology 1456
                  Abnormality of finger 1139
                    Abnormal finger phalanx morphology 709
                      Aplasia/Hypoplasia of the phalanges of the hand 239
                        Short phalanx of finger 208
                          Short distal phalanx of finger + 136
                          Short middle phalanx of finger + 44
                          Short pointed phalanges 0
                          Short proximal phalanx of finger + 7
                          Shortening of all phalanges of fingers 4
paths to the root